Sections
Section I: Genotype Summary
Genotypes called: 21 / 23
Drugs | Gene |
Genotypes
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ABCG2 ‡ |
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CACNA1S † ‡ |
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CFTR ‡ |
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CYP2B6 † ‡ |
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CYP2C19 † ‡ |
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CYP2C9 † ‡ |
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CYP2D6 † |
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CYP3A4 † ‡ |
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CYP3A5 † ‡ |
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CYP4F2 † ‡ |
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DPYD † |
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G6PD † ‡ |
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HLA-B † |
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IFNL3/4 ‡ |
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MT-RNR1 † |
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NUDT15 † ‡ |
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RYR1 † ‡ |
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SLCO1B1 † ‡ |
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TPMT † ‡ |
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UGT1A1 † ‡ |
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VKORC1 ‡ |
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Section II: Prescribing Recommendations
abacavir
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
|
HLA-B: Significantly increased risk of abacavir hypersensitivity | Abacavir is not recommended | N/A | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium Guidelines for HLA-B Genotype and Abacavir Dosing. Clinical pharmacology and therapeutics. 2012. PMID:22378157
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for HLA-B Genotype and Abacavir Dosing: 2014 update. Clinical pharmacology and therapeutics. 2014. PMID:24561393
acenocoumarol
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
PharmGKB-DPWG 1 Population: |
Genotype
|
VKORC1: The guideline does not provide a description of the impact of the -1639 GG genotype on acenocoumarol. | The guideline does not provide a recommendation for acenocoumarol in patients with the VKORC1 rs9923231 CC genotype (-1639 GG genotype). | N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
allopurinol
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
|
HLA-B: Low or reduced risk of allopurinol-induced SCAR | Use allopurinol per standard dosing guidelines | N/A | Strong |
PharmGKB-DPWG 1 Population: |
Genotype
|
ABCG2: The guideline does not provide a description of the impact of the ABCG2 rs2231142 GG genotype (c.421CC; p.141QQ) on allopurinol. | The guideline does not provide a recommendation for allopurinol in patients with the the ABCG2 rs2231142 GG genotype (c.421CC; p.141QQ) | N/A | N/A |
Citations:
- Dutch pharmacogenetics working group guideline for the gene-drug interaction of ABCG2, HLA-B and Allopurinol, and MTHFR, folic acid and methotrexate. European journal of human genetics : EJHG. 2022. PMID:36056234
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for human leukocyte antigen B (HLA-B) genotype and allopurinol dosing: 2015 update. Clinical pharmacology and therapeutics. 2015. PMID:26094938
- Clinical Pharmacogenetics Implementation Consortium Guidelines for Human Leukocyte Antigen-B Genotype and Allopurinol Dosing. Clinical pharmacology and therapeutics. 2012. PMID:23232549
amikacin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
increased risk of aminoglycoside-induced hearing loss |
MT-RNR1: Very high risk of developing hearing loss if administered an aminoglycoside antibiotic. | Avoid aminoglycoside anitbiotics unless the high risk of permanent hearing loss is outweighed by the severity of infection and lack of safe or effective alternative therapies. | If no effective alternative to an aminoglycoside antibiotic is available, evaluate for hearing loss frequently during therapy and ensure that all appropriate precautions are utilized (e.g., lowest possible dose and duration, utilization of therapeutic drug monitoring, hydration, renal function monitoring). | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of aminoglycosides based on MT-RNR1 genotype. Clinical pharmacology and therapeutics. 2021. PMID:34032273
aminosalicylic acid
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
amitriptyline
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotypes
Activity Scores
|
|
Consider a 25% reduction of recommended starting dose. Utilize therapeutic drug monitoring to guide dose adjustments. | Patients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. Dosing recommendations only apply to higher initial doses of TCAs for treatment of conditions such as depression. See other considerations for dosing recommendations for conditions where lower initial doses are used, such as neuropathic pain. | Moderate |
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: The risk of side effects is increased, because the gene variation leads to higher plasma concentrations of the active metabolite nortriptyline and to a lesser extent of amitriptyline. | Use 75% of the standard dose and monitor the efficacy and side effects or the plasma concentrations of amitriptyline and nortriptyline to adjust the maintenance dose | N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC®) for CYP2D6 and CYP2C19 Genotypes and Dosing of Tricyclic Antidepressants: 2016 Update. Clinical pharmacology and therapeutics. 2016. PMID:27997040
- Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Tricyclic Antidepressants. Clinical pharmacology and therapeutics. 2013. PMID:23486447
aripiprazole
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: The guideline does not provide a description of the impact of an intermediate metabolizer phenotype on aripiprazole. | NO action is needed for this gene-drug interaction.The genetic variation increases the plasma concentration of the sum of aripiprazole and the active metabolite dehydroaripiprazole to a limited degree. There is insufficient evidence that this increases the risk of side effects. | N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
aspirin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | aspirin ≤ 1 g/day | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
atazanavir
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
N/A |
UGT1A1: Reference UGT1A1 activity; very low likelihood of bilirubin-related discontinuation of atazanavir. | There is no need to avoid prescribing of atazanavir based on UGT1A1 genetic test result. Inform the patient that some patients stop atazanavir because of jaundice (yellow eyes and skin), but that this patient’s genotype makes this unlikely (less than about a 1 in 20 chance of stopping atazanavir because of jaundice). | All studies correlating UGT1A1 genotypes with atazanavir adverse events have involved ritonavir boosting. However, concentration-time profiles are equivalent when boosted with either cobicistat or ritonavir (PMID 23532097), and bilirubin-related adverse events including discontinuation of atazanavir occur in a similar percentage of patients prescribed atazanavir with cobicistat or ritonavir (PMID 23532097). Associations between UGT1A1 genotype, bilirubin elevations, and atazanavir/r discontinuation therefore almost certainly translate to atazanavir/cobicistat. "reference" function refers to the UGT1A1 allele to which other alleles are compared. | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for UGT1A1 and Atazanavir Prescribing. Clinical pharmacology and therapeutics. 2015. PMID:26417955
atomoxetine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
1.0 |
CYP2D6: Possibly higher atomoxetine concentrations as compared to normal metabolizers but questionable clinical significance. Intermediate metabolizers with an activity score of 1 may be at an increased risk of discontinuation as compared to poor metabolizers. | Initiate with a dose of 40 mg/day and increase to 80 mg/day after 3 days. If no clinical response and in the absence of adverse events after 2 weeks, consider increasing dose to 100 mg/day. If no clinical response observed after 2 weeks, consider obtaining a peak plasma concentration (1 to 2 hours after dose administered). If <200 ng/mL, consider a proportional increase in dose to approach 400 ng/mL. Dosages greater than 100 mg/day may be needed to achieve target concentrations. | Therapeutic range of 200 to 1000 ng/mL has been proposed (PMID 29493375). Limited data are available regarding the relationship between atomoxetine plasma concentrations and clinical response. Available information suggests that clinical response is greater in poor metabolizers (PMs) compared to non-PMs and may be related to the higher plasma concentrations 1 to 1.5 hours after dosing in PMs compared to non-PMs administered a similar dose. Furthermore, modest improvement in response, defined as reduction in ADHD-rating scale, is observed at peak concentrations greater than 400 ng/mL. Doses above 120 mg/day have not been evaluated. | Moderate |
CPIC 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
1.0 |
CYP2D6: Possibly higher atomoxetine concentrations as compared to normal metabolizers but questionable clinical significance. Intermediate metabolizers with an activity score of 1 may be at an increased risk of discontinuation as compared to poor metabolizers. | Initiate with a dose of 0.5 mg/kg/day and increase to 1.2 mg/kg/day after 3 days. If no clinical response and in the absence of adverse events after 2 weeks, consider obtaining a peak plasma concentration (1 to 2 hours after dose administered). If < 200 ng/mL, consider a proportional increase in dose to approach 400 ng/mL. | Therapeutic range of 200 to 1000 ng/mL has been proposed (PMID 29493375). Limited data are available regarding the relationship between atomoxetine plasma concentrations and clinical response. Available information suggests that clinical response is greater in poor metabolizers (PMs) compared to non-PMs and may be related to the higher plasma concentrations 1 to 1.5 hours after dosing in PMs compared to non-PMs administered a similar dose. Furthermore, modest improvement in response, defined as reduction in ADHD-rating scale, is observed at peak concentrations greater than 400 ng/mL. | Moderate |
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: The genetic variation increases the plasma concentration of atomoxetine and can thereby reduce the dose requirement. |
|
N/A | N/A |
Citations:
- Dutch pharmacogenetics working group (DPWG) guideline for the gene-drug interaction of CYP2D6 and COMT with atomoxetine and methylphenidate. European journal of human genetics : EJHG. 2022. PMID:36509836
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 Genotype and Atomoxetine Therapy. Clinical pharmacology and therapeutics. 2019. PMID:30801677
atorvastatin
In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5.
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Function |
SLCO1B1: Typical myopathy risk and statin exposure | Prescribe desired starting dose and adjust doses based on disease-specific guidelines. | The potential for drug-drug interactions and dose limits based on renal and hepatic function and ancestry should be evaluated prior to initiating a statin. | Strong |
PharmGKB-DPWG 1 |
No annotation for SLCO1B1 *1/*1. |
Citations:
- The Clinical Pharmacogenomics Implementation Consortium: Guideline for SLCO1B1 and Simvastatin-Induced Myopathy. Clinical pharmacology and therapeutics. 2012. PMID:22617227
- The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update. Clinical pharmacology and therapeutics. 2014. PMID:24918167
- The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for SLCO1B1, ABCG2, and CYP2C9 and statin-associated musculoskeletal symptoms. Clinical pharmacology and therapeutics. 2022. PMID:35152405
azathioprine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotypes
Activity Scores
|
|
Start with normal starting dose (e.g., 2-3 mg/kg/day) and adjust doses of azathioprine based on disease-specific guidelines. Allow 2 weeks to reach steady-state after each dose adjustment (PMID 20354201, 11302950, 15606506). | Normal starting doses vary by race/ethnicity and treatment regimens. If standard dose is below normal recommended dose, dose reduction might not be recommended for intermediate metabolizers. | Strong |
Population: |
Genotype
Phenotype
Normal Metabolizer |
NUDT15: The guideline does not provide a description of the impact of a normal metabolizer phenotype on azathioprine. | The guideline does not provide a recommendation for azathioprine in normal metabolizers | N/A | N/A |
Population: |
Genotype
Phenotype
Normal Metabolizer |
TPMT: The guideline does not provide a description of the impact of a normal metabolizer phenotype on azathioprine. | The guideline does not provide a recommendation for azathioprine in normal metabolizers. | N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical pharmacogenetics implementation consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing. Clinical pharmacology and therapeutics. 2011. PMID:21270794
- Clinical Pharmacogenetics Implementation Consortium Guidelines for Thiopurine Methyltransferase Genotype and Thiopurine Dosing: 2013 Update. Clinical pharmacology and therapeutics. 2013. PMID:23422873
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for thiopurine dosing based on TPMT and NUDT15 genotypes: 2018 update. Clinical pharmacology and therapeutics. 2018. PMID:30447069
brexpiprazole
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: The guideline does not provide a description of the impact of an intermediate metabolizer phenotype on brexpiprazole. | NO action is required for this gene-drug interaction. There are indications supporting an increase in the exposure to brexpiprazole, but no indications supporting an increase in side effects in patients with this gene variation. | N/A | N/A |
capecitabine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
2.0 |
DPYD: Normal DPD activity and "normal" risk for fluoropyrimidine toxicity | Based on genotype, there is no indication to change dose or therapy. Use label-recommended dosage and administration. | N/A | Strong |
PharmGKB-DPWG 1 Population: |
Genotype
Activity Score
2 |
DPYD: The guideline does not provide a description of the impact of a DPYD activity score of 2 on capecitabine. | The guideline does not provide a recommendation for capecitabine in patients with a DPYD activity score of 2. | N/A | N/A |
Citations:
- Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of DPYD and fluoropyrimidines. European journal of human genetics : EJHG. 2019. PMID:31745289
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium Guidelines for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing. Clinical pharmacology and therapeutics. 2013. PMID:23988873
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing: 2017 Update. Clinical pharmacology and therapeutics. 2017. PMID:29152729
carbamazepine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 |
No annotation for HLA-A Unknown/Unknown and HLA-B *15:02/*57:01. |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for HLA-B Genotype and Carbamazepine Dosing. Clinical pharmacology and therapeutics. 2013. PMID:23695185
- Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update. Clinical pharmacology and therapeutics. 2018. PMID:29392710
celecoxib
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
2.0 |
CYP2C9: Normal metabolism | Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals. | N/A | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and Nonsteroidal Anti-inflammatory Drugs. Clinical pharmacology and therapeutics. 2020. PMID:32189324
chloramphenicol
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
chloroquine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
ciprofloxacin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
citalopram
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
N/A |
CYP2C19: Normal metabolism | Initiate therapy with recommended starting dose | N/A | Strong |
PharmGKB-DPWG 1 |
No annotation for CYP2C19 *38/*38. |
Citations:
- Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs. European journal of human genetics : EJHG. 2022. PMID:34782755
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors. Clinical pharmacology and therapeutics. 2015. PMID:25974703
clomipramine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotypes
Activity Scores
|
|
Consider a 25% reduction of recommended starting dose. Utilize therapeutic drug monitoring to guide dose adjustments. | Patients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. Dosing recommendations only apply to higher initial doses of TCAs for treatment of conditions such as depression. See other considerations for dosing recommendations for conditions where lower initial doses are used, such as neuropathic pain. | Optional |
Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: The risk of side effects may be increased, because the gene variation leads to increased plasma concentrations of clomipramine and the active metabolite desmethylclomipramine. | Use 70% of the standard dose and monitor the effect and side effects or the plasma concentrations of clomipramine and desmethylclomipramine. For depression, the therapeutic range is 200-400 ng/mL for the sum of the plasma concentrations of clomipramine and desmethylclomipramine. For anxiety disorders, the therapeutic plasma concentration of clomipramine is approximately 100 ng/mL, in combination with a plasma concentration of desmethylclomipramine lower than 200 ng/mL. For obsessive compulsive disorder, the therapeutic plasma concentration of clomipramine is higher than 200 ng/mL, in combination with a plasma concentration of desmethylclomipramine that is as low as possible. A sum of the plasma concentrations of clomipramine and desmethylclomipramine higher than 600 ng/mL is considered toxic. | N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC®) for CYP2D6 and CYP2C19 Genotypes and Dosing of Tricyclic Antidepressants: 2016 Update. Clinical pharmacology and therapeutics. 2016. PMID:27997040
- Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Tricyclic Antidepressants. Clinical pharmacology and therapeutics. 2013. PMID:23486447
clopidogrel
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer |
CYP2C19: Normal clopidogrel active metabolite formation; normal on-treatment platelet reactivity | If considering clopidogrel, use at standard dose (75 mg/day) | For cardiovascular indications of acute coronary syndrome (ACS) and/or percutaneous coronary intervention (PCI). ACS and/or PCI includes patients undergoing PCI for an ACS or non-ACS (elective) indication. | Strong |
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer |
CYP2C19: Normal clopidogrel active metabolite formation; normal on-treatment platelet reactivity | If considering clopidogrel, use at standard dose (75 mg/day) | For non-acute coronary syndrome (non-ACS) and non-percutaneous coronary intervention (non-PCI) cardiovascular indications. Non-ACS, non-PCI cardiovascular indications include peripheral arterial disease and stable coronary artery disease following a recent myocardial infarction outside the setting of PCI. | Strong |
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer |
CYP2C19: Normal clopidogrel active metabolite formation; normal on-treatment platelet reactivity | If considering clopidogrel, use at standard dose (75 mg/day) | For neurovascular indications. Neurovascular disease includes acute ischemic stroke or transient ischemic attack, secondary prevention of stroke, or prevention of thromboembolic events following neurointerventional procedures such as carotid artery stenting and stent-assisted coiling of intracranial aneurysms. | Strong |
PharmGKB-DPWG 1 |
No annotation for CYP2C19 *38/*38. |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium Guidelines for Cytochrome P450-2C19 (CYP2C19) Genotype and Clopidogrel Therapy. Clinical pharmacology and therapeutics. 2011. PMID:21716271
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for cytochrome P450-2C19 (CYP2C19) genotype and clopidogrel therapy: 2013 Update. Clinical pharmacology and therapeutics. 2013. PMID:23698643
- Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2C19 Genotype and Clopidogrel Therapy: 2022 Update. Clinical pharmacology and therapeutics. 2022. PMID:35034351
codeine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
1.0 |
CYP2D6: Reduced morphine formation | Use codeine label recommended age- or weight-specific dosing. If no response and opioid use is warranted, consider a non-tramadol opioid. | N/A | Moderate |
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: The genetic variation reduces the conversion of codeine to morphine. This can result in reduced analgesia. | For COUGH:
|
N/A | N/A |
Citations:
- Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone). European journal of human genetics : EJHG. 2022. PMID:34267337
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for Codeine Therapy in the Context of Cytochrome P450 2D6 (CYP2D6) Genotype. Clinical pharmacology and therapeutics. 2011. PMID:22205192
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for cytochrome P450 2D6 (CYP2D6) genotype and codeine therapy: 2014 Update. Clinical pharmacology and therapeutics. 2014. PMID:24458010
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6, OPRM1, and COMT genotype and select opioid therapy. Clinical pharmacology and therapeutics. 2021. PMID:33387367
dapsone
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
desflurane
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotypes
Activity Scores
|
|
Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. | N/A | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes. Clinical pharmacology and therapeutics. 2018. PMID:30499100
desipramine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
1.0 |
CYP2D6: Reduced metabolism of TCAs to less active compounds compared to normal metabolizers. Higher plasma concentrations of active drug will increase the probability of side effects. | Consider a 25% reduction of recommended starting dose. Titrate dose to observed clinical response with symptom improvement and minimal (if any) side effects. Utilize therapeutic drug monitoring to guide dose adjustments. | Patients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. Dosing recommendations only apply to higher initial doses of TCAs for treatment of conditions such as depression. See other considerations for dosing recommendations for conditions where lower initial doses are used, such as neuropathic pain. | Optional |
Citations:
- Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC®) for CYP2D6 and CYP2C19 Genotypes and Dosing of Tricyclic Antidepressants: 2016 Update. Clinical pharmacology and therapeutics. 2016. PMID:27997040
- Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Tricyclic Antidepressants. Clinical pharmacology and therapeutics. 2013. PMID:23486447
dexlansoprazole
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
N/A |
CYP2C19: Normal PPI metabolism; may be at increased risk of therapeutic failure compared to CYP2C19 IMs and PMs | Initiate standard starting daily dose. Consider increasing dose by 50-100% for the treatment of H. pylori infection and erosive esophagitis. Daily dose may be given in divided doses. Monitor for efficacy. | N/A | Optional |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing. Clinical pharmacology and therapeutics. 2020. PMID:32770672
dibekacin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
increased risk of aminoglycoside-induced hearing loss |
MT-RNR1: Very high risk of developing hearing loss if administered an aminoglycoside antibiotic. | Avoid aminoglycoside anitbiotics unless the high risk of permanent hearing loss is outweighed by the severity of infection and lack of safe or effective alternative therapies. | If no effective alternative to an aminoglycoside antibiotic is available, evaluate for hearing loss frequently during therapy and ensure that all appropriate precautions are utilized (e.g., lowest possible dose and duration, utilization of therapeutic drug monitoring, hydration, renal function monitoring). | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of aminoglycosides based on MT-RNR1 genotype. Clinical pharmacology and therapeutics. 2021. PMID:34032273
dimercaprol
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
doxepin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotypes
Activity Scores
|
|
Consider a 25% reduction of recommended starting dose. Utilize therapeutic drug monitoring to guide dose adjustments. | Patients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. Dosing recommendations only apply to higher initial doses of TCAs for treatment of conditions such as depression. See other considerations for dosing recommendations for conditions where lower initial doses are used, such as neuropathic pain. | Optional |
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: The risk of side effects may be increased, because the gene variation leads to increased plasma concentrations of doxepin and the active metabolite nordoxepin. | Use 80% of the standard dose and monitor the effect and side effects or the plasma concentrations of doxepin and nordoxepin in order to set the maintenance dose. The therapeutic range is 100-250 ng/mL for the sum of doxepin and nordoxepin plasma concentrations. Values higher than 400 ng/mL are considered toxic. | N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC®) for CYP2D6 and CYP2C19 Genotypes and Dosing of Tricyclic Antidepressants: 2016 Update. Clinical pharmacology and therapeutics. 2016. PMID:27997040
- Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Tricyclic Antidepressants. Clinical pharmacology and therapeutics. 2013. PMID:23486447
doxorubicin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
efavirenz
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
N/A |
CYP2B6: Normal efavirenz metabolism | Initiate efavirenz with standard dosing (600 mg/day) | The ENCORE study showed that in treatment-naïve patients randomized to initiate efavirenz-based regimens (combined with tenofovir and emtricitabine), 400 mg/day was non-inferior to 600 mg/day regardless of CYP2B6 genotype (PMID 24522178). | Strong |
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Normal Metabolizer |
CYP2B6: The guideline does not provide a description of the impact of a normal metabolizer phenotype on efavirenz. | The guideline does not provide a recommendation for efavirenz in normal metabolizers. | N/A | N/A |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2B6 and Efavirenz-containing Antiretroviral Therapy. Clinical pharmacology and therapeutics. 2019. PMID:31006110
eliglustat
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: This gene variation reduces the conversion of eliglustat to inactive metabolites. However, in the absence of CYP2D6 and CYP3A inhibitors, this does not result in a clinically significant increased risk of side effects. |
|
N/A | N/A |
enflurane
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotypes
Activity Scores
|
|
Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. | N/A | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes. Clinical pharmacology and therapeutics. 2018. PMID:30499100
escitalopram
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
N/A |
CYP2C19: Normal metabolism | Initiate therapy with recommended starting dose | N/A | Strong |
PharmGKB-DPWG 1 |
No annotation for CYP2C19 *38/*38. |
Citations:
- Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs. European journal of human genetics : EJHG. 2022. PMID:34782755
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors. Clinical pharmacology and therapeutics. 2015. PMID:25974703
flecainide
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: The genetic variation reduces conversion of flecainide to inactive metabolites. This may increase the risk of side effects. |
|
N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
flucytosine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
PharmGKB-DPWG 1 Population: |
Genotype
Activity Score
2 |
DPYD: The guideline does not provide a description of the impact of a DPYD activity score of 2 on flucytosine. | The guideline does not provide a recommendation for flucytosine in patients with a DPYD activity score of 2. | N/A | N/A |
fluorouracil
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
2.0 |
DPYD: Normal DPD activity and "normal" risk for fluoropyrimidine toxicity | Based on genotype, there is no indication to change dose or therapy. Use label-recommended dosage and administration. | N/A | Strong |
PharmGKB-DPWG 1 Population: |
Genotype
Activity Score
2 |
DPYD: The guideline does not provide a description of the impact of a DPYD activity score of 2 on fluorouracil. | The guideline does not provide a recommendation for fluorouracil in patients with a DPYD activity score of 2. | N/A | N/A |
Citations:
- Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of DPYD and fluoropyrimidines. European journal of human genetics : EJHG. 2019. PMID:31745289
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium Guidelines for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing. Clinical pharmacology and therapeutics. 2013. PMID:23988873
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing: 2017 Update. Clinical pharmacology and therapeutics. 2017. PMID:29152729
flurbiprofen
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
2.0 |
CYP2C9: Normal metabolism | Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals. | N/A | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and Nonsteroidal Anti-inflammatory Drugs. Clinical pharmacology and therapeutics. 2020. PMID:32189324
fluvastatin
In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5.
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotypes
Activity Score
2.0 |
|
Prescribe desired starting dose and adjust doses of fluvastatin based on disease-specific guidelines. | The potential for drug-drug interactions and dose limits based on renal and hepatic function and ancestry should be evaluated prior to initiating a statin. | Strong |
Citations:
- The Clinical Pharmacogenomics Implementation Consortium: Guideline for SLCO1B1 and Simvastatin-Induced Myopathy. Clinical pharmacology and therapeutics. 2012. PMID:22617227
- The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update. Clinical pharmacology and therapeutics. 2014. PMID:24918167
- The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for SLCO1B1, ABCG2, and CYP2C9 and statin-associated musculoskeletal symptoms. Clinical pharmacology and therapeutics. 2022. PMID:35152405
fluvoxamine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
1.0 |
CYP2D6: Reduced metabolism when compared to normal metabolizers. Higher plasma concentrations may increase the probability of side effects. | Initiate therapy with recommended starting dose. | N/A | Moderate |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors. Clinical pharmacology and therapeutics. 2015. PMID:25974703
fosphenytoin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
2.0 |
|
If the patient has previously used phenytoin continuously for longer than three months without incidence of cutaneous adverse reactions, cautiously consider use of phenytoin in the future. The latency period for drug-induced SJS/TEN is short with continuous dosing and adherence to therapy (4-28 days), and cases usually occur within three months of dosing. | Previous tolerance of phenytoin is not indicative of tolerance to other aromatic anticonvulsants. | Optional |
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
2.0 |
|
If patient is phenytoin-naive, do not use phenytoin/fosphenytoin. Avoid carbamazepine and oxcarbazepine. | Other aromatic anticonvulsants, including eslicarbazepine, lamotrigine, and phenobarbital, have weaker evidence linking SJS/TEN with the HLA-B*15:02 allele; however, caution should still be used in choosing an alternative agent. | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP2C9 and HLA-B Genotype and Phenytoin Dosing. Clinical pharmacology and therapeutics. 2014. PMID:25099164
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and HLA-B Genotypes and Phenytoin Dosing: 2020 Update. Clinical pharmacology and therapeutics. 2020. PMID:32779747
furazolidone
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
gentamicin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
increased risk of aminoglycoside-induced hearing loss |
MT-RNR1: Very high risk of developing hearing loss if administered an aminoglycoside antibiotic. | Avoid aminoglycoside anitbiotics unless the high risk of permanent hearing loss is outweighed by the severity of infection and lack of safe or effective alternative therapies. | If no effective alternative to an aminoglycoside antibiotic is available, evaluate for hearing loss frequently during therapy and ensure that all appropriate precautions are utilized (e.g., lowest possible dose and duration, utilization of therapeutic drug monitoring, hydration, renal function monitoring). | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of aminoglycosides based on MT-RNR1 genotype. Clinical pharmacology and therapeutics. 2021. PMID:34032273
glyburide
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
haloperidol
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: The genetic variation results in a higher plasma concentration, but the effect is small and no clinically significant effects were found. | NO action is required for this gene-drug interaction. | N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
halothane
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotypes
Activity Scores
|
|
Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. | N/A | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes. Clinical pharmacology and therapeutics. 2018. PMID:30499100
hydrocodone
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
1.0 |
CYP2D6: Minimal evidence for pharmacokinetic or clinical effect. | Use hydrocodone label recommended age- or weight-specific dosing. If no response and opioid use is warranted, consider non-codeine or non-tramadol opioid. | N/A | Optional |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for Codeine Therapy in the Context of Cytochrome P450 2D6 (CYP2D6) Genotype. Clinical pharmacology and therapeutics. 2011. PMID:22205192
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for cytochrome P450 2D6 (CYP2D6) genotype and codeine therapy: 2014 Update. Clinical pharmacology and therapeutics. 2014. PMID:24458010
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6, OPRM1, and COMT genotype and select opioid therapy. Clinical pharmacology and therapeutics. 2021. PMID:33387367
hydroxychloroquine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
ibuprofen
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
2.0 |
CYP2C9: Normal metabolism | Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals. | N/A | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and Nonsteroidal Anti-inflammatory Drugs. Clinical pharmacology and therapeutics. 2020. PMID:32189324
imipramine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotypes
Activity Scores
|
|
Consider a 25% reduction of recommended starting dose. Utilize therapeutic drug monitoring to guide dose adjustments. | Patients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. Dosing recommendations only apply to higher initial doses of TCAs for treatment of conditions such as depression. See other considerations for dosing recommendations for conditions where lower initial doses are used, such as neuropathic pain. | Optional |
Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: The risk of side effects may be increased, because the gene variation leads to increased plasma concentrations of imipramine and desipramine. | Use 70% of the standard dose and monitor the effect and side effects or the plasma concentrations of imipramine and desipramine in order to set the maintenance dose. The therapeutic range is 150-300 ng/mL for the sum of the imipramine and desipramine plasma concentrations. Values exceeding 500 ng/mL are considered toxic. | N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC®) for CYP2D6 and CYP2C19 Genotypes and Dosing of Tricyclic Antidepressants: 2016 Update. Clinical pharmacology and therapeutics. 2016. PMID:27997040
- Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Tricyclic Antidepressants. Clinical pharmacology and therapeutics. 2013. PMID:23486447
irinotecan
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Normal Metabolizer |
UGT1A1: The guideline does not provide a description of the impact of a normal metabolizer phenotype on irinotecan. | The guideline does not provide a recommendation for irinotecan in normal metabolizers | N/A | N/A |
Citations:
- Dutch pharmacogenetics working group (DPWG) guideline for the gene-drug interaction between UGT1A1 and irinotecan. European journal of human genetics : EJHG. 2022. PMID:36443464
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
isoflurane
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotypes
Activity Scores
|
|
Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. | N/A | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes. Clinical pharmacology and therapeutics. 2018. PMID:30499100
ivacaftor
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
ivacaftor non-responsive in CF patients Activity Score
N/A |
CFTR: An individual diagnosed with cystic fibrosis (CF) and negative for a CFTR variant listed in the FDA-approved drug label as being responsive to ivacaftor. | Ivacaftor is not recommended | N/A | Moderate |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for Ivacaftor Therapy in the Context of CFTR Genotype. Clinical pharmacology and therapeutics. 2014. PMID:24598717
kanamycin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
increased risk of aminoglycoside-induced hearing loss |
MT-RNR1: Very high risk of developing hearing loss if administered an aminoglycoside antibiotic. | Avoid aminoglycoside anitbiotics unless the high risk of permanent hearing loss is outweighed by the severity of infection and lack of safe or effective alternative therapies. | If no effective alternative to an aminoglycoside antibiotic is available, evaluate for hearing loss frequently during therapy and ensure that all appropriate precautions are utilized (e.g., lowest possible dose and duration, utilization of therapeutic drug monitoring, hydration, renal function monitoring). | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of aminoglycosides based on MT-RNR1 genotype. Clinical pharmacology and therapeutics. 2021. PMID:34032273
lansoprazole
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
N/A |
CYP2C19: Normal PPI metabolism; may be at increased risk of therapeutic failure compared to CYP2C19 IMs and PMs | Initiate standard starting daily dose. Consider increasing dose by 50-100% for the treatment of H. pylori infection and erosive esophagitis. Daily dose may be given in divided doses. Monitor for efficacy. | N/A | Moderate |
PharmGKB-DPWG 1 |
No annotation for CYP2C19 *38/*38. |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing. Clinical pharmacology and therapeutics. 2020. PMID:32770672
lornoxicam
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
2.0 |
CYP2C9: Normal metabolism | Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals. | N/A | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and Nonsteroidal Anti-inflammatory Drugs. Clinical pharmacology and therapeutics. 2020. PMID:32189324
lovastatin
In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5.
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Function |
SLCO1B1: Typical myopathy risk and statin exposure | Prescribe desired starting dose and adjust doses based on disease-specific guidelines. | The potential for drug-drug interactions and dose limits based on renal and hepatic function and ancestry should be evaluated prior to initiating a statin. | Strong |
Citations:
- The Clinical Pharmacogenomics Implementation Consortium: Guideline for SLCO1B1 and Simvastatin-Induced Myopathy. Clinical pharmacology and therapeutics. 2012. PMID:22617227
- The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update. Clinical pharmacology and therapeutics. 2014. PMID:24918167
- The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for SLCO1B1, ABCG2, and CYP2C9 and statin-associated musculoskeletal symptoms. Clinical pharmacology and therapeutics. 2022. PMID:35152405
mafenide
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
meloxicam
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
2.0 |
CYP2C9: Normal metabolism | Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals. | N/A | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and Nonsteroidal Anti-inflammatory Drugs. Clinical pharmacology and therapeutics. 2020. PMID:32189324
mercaptopurine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotypes
Activity Scores
|
|
Start with normal starting dose (e.g., 75 mg/m2/day or 1.5 mg/kg/day) and adjust doses of mercaptopurine (and of any other myelosuppressive therapy) without any special emphasis on mercaptopurine compared to other agents. Allow at least 2 weeks to reach steady-state after each dose adjustment (PMID 20354201, 16401827, 11302950). | Normal starting doses vary by race/ethnicity and treatment regimens. If standard dose is below normal recommended dose, dose reduction might not be recommended for intermediate metabolizers. | Strong |
Population: |
Genotype
Phenotype
Normal Metabolizer |
NUDT15: The guideline does not provide a description of the impact of a normal metabolizer phenotype on mercaptopurine. | The guideline does not provide a recommendation for mercaptopurine in normal metabolizers | N/A | N/A |
Population: |
Genotype
Phenotype
Normal Metabolizer |
TPMT: The guideline does not provide a description of the impact of a normal metabolizer phenotype on mercaptopurine. | The guideline does not provide a recommendation for mercaptopurine in normal metabolizers. | N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical pharmacogenetics implementation consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing. Clinical pharmacology and therapeutics. 2011. PMID:21270794
- Clinical Pharmacogenetics Implementation Consortium Guidelines for Thiopurine Methyltransferase Genotype and Thiopurine Dosing: 2013 Update. Clinical pharmacology and therapeutics. 2013. PMID:23422873
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for thiopurine dosing based on TPMT and NUDT15 genotypes: 2018 update. Clinical pharmacology and therapeutics. 2018. PMID:30447069
methoxyflurane
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotypes
Activity Scores
|
|
Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. | N/A | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes. Clinical pharmacology and therapeutics. 2018. PMID:30499100
methylene blue
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low risk of acute hemolytic anemia | No reason to avoid ased on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
metoprolol
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: The gene variation reduces the conversion of metoprolol to inactive metabolites. However, the clinical consequences are limited mainly to the occurrence of asymptomatic bradycardia. | If a GRADUAL REDUCTION in HEART RATE is desired, or in the event of SYMPTOMATIC BRADYCARDIA: 1. use smaller steps in dose titration and/or prescribe no more than 50% of the standard dose. OTHER CASES: 1. no action required | N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
nalidixic acid
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
neomycin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
increased risk of aminoglycoside-induced hearing loss |
MT-RNR1: Very high risk of developing hearing loss if administered an aminoglycoside antibiotic. | Avoid aminoglycoside anitbiotics unless the high risk of permanent hearing loss is outweighed by the severity of infection and lack of safe or effective alternative therapies. | If no effective alternative to an aminoglycoside antibiotic is available, evaluate for hearing loss frequently during therapy and ensure that all appropriate precautions are utilized (e.g., lowest possible dose and duration, utilization of therapeutic drug monitoring, hydration, renal function monitoring). | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of aminoglycosides based on MT-RNR1 genotype. Clinical pharmacology and therapeutics. 2021. PMID:34032273
netilmicin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
increased risk of aminoglycoside-induced hearing loss |
MT-RNR1: Very high risk of developing hearing loss if administered an aminoglycoside antibiotic. | Avoid aminoglycoside anitbiotics unless the high risk of permanent hearing loss is outweighed by the severity of infection and lack of safe or effective alternative therapies. | If no effective alternative to an aminoglycoside antibiotic is available, evaluate for hearing loss frequently during therapy and ensure that all appropriate precautions are utilized (e.g., lowest possible dose and duration, utilization of therapeutic drug monitoring, hydration, renal function monitoring). | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of aminoglycosides based on MT-RNR1 genotype. Clinical pharmacology and therapeutics. 2021. PMID:34032273
nitrofurantoin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
norfloxacin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
nortriptyline
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
1.0 |
CYP2D6: Reduced metabolism of tricyclic antidepressants to less active compounds compared to normal metabolizers. Higher plasma concentrations of active drug will increase the probability of side effects. | Consider a 25% reduction of recommended starting dose. Titrate dose to observed clinical response with symptom improvement and minimal (if any) side effects. Utilize therapeutic drug monitoring to guide dose adjustments. | Patients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. Dosing recommendations only apply to higher initial doses of tricyclic antidepressants for treatment of conditions such as depression. See other considerations for dosing recommendations for conditions where lower initial doses are used, such as neuropathic pain. | Optional |
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: The risk of side effects may be increased, because the gene variation leads to an increased plasma concentration of nortriptyline. | Use 60% of the standard dose and monitor the effect and side effects or the plasma concentration of nortriptyline in order to set the maintenance dose. The therapeutic range of nortriptyline is 50-150 ng/mL. Values exceeding 250 ng/mL are considered toxic. | N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC®) for CYP2D6 and CYP2C19 Genotypes and Dosing of Tricyclic Antidepressants: 2016 Update. Clinical pharmacology and therapeutics. 2016. PMID:27997040
- Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Tricyclic Antidepressants. Clinical pharmacology and therapeutics. 2013. PMID:23486447
ofloxacin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
omeprazole
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
N/A |
CYP2C19: Normal PPI metabolism; may be at increased risk of therapeutic failure compared to CYP2C19 IMs and PMs | Initiate standard starting daily dose. Consider increasing dose by 50-100% for the treatment of H. pylori infection and erosive esophagitis. Daily dose may be given in divided doses. Monitor for efficacy. | N/A | Moderate |
PharmGKB-DPWG 1 |
No annotation for CYP2C19 *38/*38. |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing. Clinical pharmacology and therapeutics. 2020. PMID:32770672
ondansetron
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
1.0 |
CYP2D6: Very limited data available for CYP2D6 intermediate metabolizers | Insufficient evidence demonstrating clinical impact based on CYP2D6 genotype. Initiate therapy with recommended starting dose. | Drug-drug interactions and other patient characteristics (e.g., age, renal function, and liver function) should be considered when selecting alternative therapy. | No Recommendation |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 Genotype and Use of Ondansetron and Tropisetron. Clinical pharmacology and therapeutics. 2016. PMID:28002639
oxcarbazepine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Activity Score
N/A |
HLA-B: Greater risk of oxcarbazepine-induced SJS/TEN | The latency period for drug-induced SJS/TEN is short with continuous dosing and adherence to therapy (~4-28 days), and cases usually occur within three months of dosing; therefore, if the patient has previously used oxcarbazepine consistently for longer than three months without incidence of cutaneous adverse reactions, cautiously consider use of oxcarbazepine in the future. | Previous tolerance of oxcarbazepine is not indicative of tolerance to other aromatic anticonvulsants. Aromatic anticonvulsants include carbamazepine, oxcarbazepine, eslicarbazepine, lamotrigine, phenytoin, fosphenytoin, and phenobarbital. | Optional |
CPIC 1 Population: |
Genotype
|
HLA-B: Greater risk of oxcarbazepine-induced SJS/TEN | If patient is oxcarbazepine-naïve, do not use oxcarbazepine. | Other aromatic anticonvulsants have weaker evidence linking SJS/TEN with the HLA-B*15:02 allele; however, caution should still be used in choosing an alternative agent. Aromatic anticonvulsants include carbamazepine, oxcarbazepine, eslicarbazepine, lamotrigine, phenytoin, fosphenytoin, and phenobarbital. | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for HLA-B Genotype and Carbamazepine Dosing. Clinical pharmacology and therapeutics. 2013. PMID:23695185
- Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update. Clinical pharmacology and therapeutics. 2018. PMID:29392710
pantoprazole
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
N/A |
CYP2C19: Normal PPI metabolism; may be at increased risk of therapeutic failure compared to CYP2C19 IMs and PMs | Initiate standard starting daily dose. Consider increasing dose by 50-100% for the treatment of H. pylori infection and erosive esophagitis. Daily dose may be given in divided doses. Monitor for efficacy. | N/A | Moderate |
PharmGKB-DPWG 1 |
No annotation for CYP2C19 *38/*38. |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing. Clinical pharmacology and therapeutics. 2020. PMID:32770672
paromomycin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
increased risk of aminoglycoside-induced hearing loss |
MT-RNR1: Very high risk of developing hearing loss if administered an aminoglycoside antibiotic. | Avoid aminoglycoside anitbiotics unless the high risk of permanent hearing loss is outweighed by the severity of infection and lack of safe or effective alternative therapies. | If no effective alternative to an aminoglycoside antibiotic is available, evaluate for hearing loss frequently during therapy and ensure that all appropriate precautions are utilized (e.g., lowest possible dose and duration, utilization of therapeutic drug monitoring, hydration, renal function monitoring). | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of aminoglycosides based on MT-RNR1 genotype. Clinical pharmacology and therapeutics. 2021. PMID:34032273
paroxetine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
1.0 |
CYP2D6: Reduced metabolism when compared to normal metabolizers. Higher plasma concentrations may increase the probability of side effects. | Initiate therapy with recommended starting dose | N/A | Moderate |
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: The plasma concentration of paroxetine can increase as a result of the reduced activity of CYP2D6. However, studies did not find any clinical effects. | NO action is needed for this gene-drug interaction. | N/A | N/A |
Citations:
- Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs. European journal of human genetics : EJHG. 2022. PMID:34782755
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors. Clinical pharmacology and therapeutics. 2015. PMID:25974703
peginterferon alfa-2a
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 |
No annotation for IFNL3/4 rs12979860 reference (C)/rs12979860 reference (C). |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for IFNL3 (IL28B) genotype and peginterferon alpha based regimens. Clinical pharmacology and therapeutics. 2013. PMID:24096968
peginterferon alfa-2b
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 |
No annotation for IFNL3/4 rs12979860 reference (C)/rs12979860 reference (C). |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for IFNL3 (IL28B) genotype and peginterferon alpha based regimens. Clinical pharmacology and therapeutics. 2013. PMID:24096968
pegloticase
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
phenazopyridine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
phenprocoumon
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
PharmGKB-DPWG 1 Population: |
Genotype
|
VKORC1: The guideline does not provide a description of the impact of the VKORC1 rs9923231 CC genotype (-1639 GG genotype) on phenprocoumon. | The guideline does not provide a recommendation for phenprocoumon in patients with the VKORC1 rs9923231 CC genotype (-1639 GG genotype). | N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
phenytoin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
2.0 |
|
If the patient has previously used phenytoin continuously for longer than three months without incidence of cutaneous adverse reactions, cautiously consider use of phenytoin in the future. The latency period for drug-induced SJS/TEN is short with continuous dosing and adherence to therapy (4-28 days), and cases usually occur within three months of dosing. | Previous tolerance of phenytoin is not indicative of tolerance to other aromatic anticonvulsants. | Optional |
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
2.0 |
|
If patient is phenytoin-naive, do not use phenytoin/fosphenytoin. Avoid carbamazepine and oxcarbazepine. | Other aromatic anticonvulsants, including eslicarbazepine, lamotrigine, and phenobarbital, have weaker evidence linking SJS/TEN with the HLA-B*15:02 allele; however, caution should still be used in choosing an alternative agent. | Strong |
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Normal Metabolizer |
CYP2C9: The guideline does not provide a description of the impact of a normal metabolizer phenotype on phenytoin. | The guideline does not provide a recommendation for phenytoin in normal metabolizers. | N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP2C9 and HLA-B Genotype and Phenytoin Dosing. Clinical pharmacology and therapeutics. 2014. PMID:25099164
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and HLA-B Genotypes and Phenytoin Dosing: 2020 Update. Clinical pharmacology and therapeutics. 2020. PMID:32779747
pimozide
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: The risk of QT-prolongation – and thereby also the risk of torsade de points – is theoretically increased, because the genetic variation results in an increase in the plasma concentration of pimozide. The elevated plasma concentration and associated theoretical increased risk of QT elongation can be negated by following the dose recommendations provided below. | Use no more than the following doses (80% of the standard maximum dose): 12 years and older: 16 mg/day younger than 12 years: 0.08 mg/kg per day to a maximum of 3 mg/day | N/A | N/A |
piroxicam
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
2.0 |
CYP2C9: Normal metabolism | Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals. | N/A | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and Nonsteroidal Anti-inflammatory Drugs. Clinical pharmacology and therapeutics. 2020. PMID:32189324
pitavastatin
In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5.
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Function |
SLCO1B1: Typical myopathy risk and statin exposure | Prescribe desired starting dose and adjust doses based on disease-specific guidelines. | The potential for drug-drug interactions and dose limits based on renal and hepatic function and ancestry should be evaluated prior to initiating a statin. | Strong |
Citations:
- The Clinical Pharmacogenomics Implementation Consortium: Guideline for SLCO1B1 and Simvastatin-Induced Myopathy. Clinical pharmacology and therapeutics. 2012. PMID:22617227
- The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update. Clinical pharmacology and therapeutics. 2014. PMID:24918167
- The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for SLCO1B1, ABCG2, and CYP2C9 and statin-associated musculoskeletal symptoms. Clinical pharmacology and therapeutics. 2022. PMID:35152405
plazomicin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
increased risk of aminoglycoside-induced hearing loss |
MT-RNR1: Very high risk of developing hearing loss if administered an aminoglycoside antibiotic. | Avoid aminoglycoside anitbiotics unless the high risk of permanent hearing loss is outweighed by the severity of infection and lack of safe or effective alternative therapies. | If no effective alternative to an aminoglycoside antibiotic is available, evaluate for hearing loss frequently during therapy and ensure that all appropriate precautions are utilized (e.g., lowest possible dose and duration, utilization of therapeutic drug monitoring, hydration, renal function monitoring). | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of aminoglycosides based on MT-RNR1 genotype. Clinical pharmacology and therapeutics. 2021. PMID:34032273
pravastatin
In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5.
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Function |
SLCO1B1: Typical myopathy risk and statin exposure | Prescribe desired starting dose and adjust doses based on disease-specific guidelines. | The potential for drug-drug interactions and dose limits based on renal and hepatic function and ancestry should be evaluated prior to initiating a statin. | Strong |
Citations:
- The Clinical Pharmacogenomics Implementation Consortium: Guideline for SLCO1B1 and Simvastatin-Induced Myopathy. Clinical pharmacology and therapeutics. 2012. PMID:22617227
- The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update. Clinical pharmacology and therapeutics. 2014. PMID:24918167
- The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for SLCO1B1, ABCG2, and CYP2C9 and statin-associated musculoskeletal symptoms. Clinical pharmacology and therapeutics. 2022. PMID:35152405
primaquine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
propafenone
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: Genetic variation increases the sum of the plasma concentrations of propafenone and the active metabolite 5-hydroxypropafenone. This may increase the risk of side effects. | It is not possible to offer adequately substantiated recommendations for dose adjustment based on the literature.
|
N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
quetiapine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Normal Metabolizer |
CYP3A4: The guideline does not provide a description of the impact of a normal metabolizer phenotype on quetiapine. | The guideline does not provide a recommendation for quetiapine in normal metabolizers. | N/A | N/A |
quinine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
rasburicase
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
ribostamycin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
increased risk of aminoglycoside-induced hearing loss |
MT-RNR1: Very high risk of developing hearing loss if administered an aminoglycoside antibiotic. | Avoid aminoglycoside anitbiotics unless the high risk of permanent hearing loss is outweighed by the severity of infection and lack of safe or effective alternative therapies. | If no effective alternative to an aminoglycoside antibiotic is available, evaluate for hearing loss frequently during therapy and ensure that all appropriate precautions are utilized (e.g., lowest possible dose and duration, utilization of therapeutic drug monitoring, hydration, renal function monitoring). | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of aminoglycosides based on MT-RNR1 genotype. Clinical pharmacology and therapeutics. 2021. PMID:34032273
risperidone
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: There is little evidence to support an increase in side effects caused by the gene variation. The gene variation may lead to a decrease in the required maintenance dose. However, as the effect on the dose is smaller than that of the normal biological variation, action is not useful. | NO action is needed for this gene-drug interaction. | N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
rosuvastatin
In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5.
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotypes
|
|
Prescribe desired starting dose and adjust doses of rosuvastatin based on disease-specific and specific population guidelines. | The potential for drug-drug interactions and dose limits based on renal and hepatic function and Asian ancestry should be evaluated prior to initiating rosuvastatin. | Strong |
Citations:
- The Clinical Pharmacogenomics Implementation Consortium: Guideline for SLCO1B1 and Simvastatin-Induced Myopathy. Clinical pharmacology and therapeutics. 2012. PMID:22617227
- The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update. Clinical pharmacology and therapeutics. 2014. PMID:24918167
- The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for SLCO1B1, ABCG2, and CYP2C9 and statin-associated musculoskeletal symptoms. Clinical pharmacology and therapeutics. 2022. PMID:35152405
sertraline
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer |
CYP2C19: Normal metabolism | Initiate therapy with recommended starting dose | N/A | Strong |
PharmGKB-DPWG 1 |
No annotation for CYP2C19 *38/*38. |
Citations:
- Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs. European journal of human genetics : EJHG. 2022. PMID:34782755
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors. Clinical pharmacology and therapeutics. 2015. PMID:25974703
sevoflurane
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotypes
Activity Scores
|
|
Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. | N/A | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes. Clinical pharmacology and therapeutics. 2018. PMID:30499100
simvastatin
In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5.
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Function |
SLCO1B1: Typical myopathy risk and statin exposure | Prescribe desired starting dose and adjust doses based on disease-specific guidelines. | The potential for drug-drug interactions and dose limits based on renal and hepatic function and ancestry should be evaluated prior to initiating a statin. | Strong |
PharmGKB-DPWG 1 |
No annotation for SLCO1B1 *1/*1. |
Citations:
- The Clinical Pharmacogenomics Implementation Consortium: Guideline for SLCO1B1 and Simvastatin-Induced Myopathy. Clinical pharmacology and therapeutics. 2012. PMID:22617227
- The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update. Clinical pharmacology and therapeutics. 2014. PMID:24918167
- The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for SLCO1B1, ABCG2, and CYP2C9 and statin-associated musculoskeletal symptoms. Clinical pharmacology and therapeutics. 2022. PMID:35152405
siponimod
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Normal Metabolizer |
CYP2C9: The guideline does not provide a description of the impact of a normal metabolizer phenotype on siponimod. | The guideline does not provide a recommendation for siponimod in normal metabolizers. | N/A | N/A |
streptomycin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
increased risk of aminoglycoside-induced hearing loss |
MT-RNR1: Very high risk of developing hearing loss if administered an aminoglycoside antibiotic. | Avoid aminoglycoside anitbiotics unless the high risk of permanent hearing loss is outweighed by the severity of infection and lack of safe or effective alternative therapies. | If no effective alternative to an aminoglycoside antibiotic is available, evaluate for hearing loss frequently during therapy and ensure that all appropriate precautions are utilized (e.g., lowest possible dose and duration, utilization of therapeutic drug monitoring, hydration, renal function monitoring). | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of aminoglycosides based on MT-RNR1 genotype. Clinical pharmacology and therapeutics. 2021. PMID:34032273
succinylcholine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotypes
Activity Scores
|
|
Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. | N/A | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes. Clinical pharmacology and therapeutics. 2018. PMID:30499100
sulfadiazine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
sulfadimidine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
sulfamethoxazole / trimethoprim
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
sulfanilamide
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
sulfasalazine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
sulfisoxazole
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
tacrolimus
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
N/A |
CYP3A5: Lower dose-adjusted trough concentrations of tacrolimus and decreased chance of achieving target tacrolimus concentrations. | Increase starting dose 1.5 to 2 times recommended starting dose. Total starting dose should not exceed 0.3 mg/kg/day. Use therapeutic drug monitoring to guide dose adjustments. | This recommendation includes the use of tacrolimus in kidney, heart, lung and hematopoietic stem cell transplant patients, and liver transplant patients where the donor and recipient genotypes are identical. Further dose adjustments or selection of alternative therapy may be necessary due to other clinical factors (e.g., medication interactions, or hepatic function). Typically with other CYP enzymes, a normal metabolizer would be classified as having normal metabolism, and therefore, the drug dose would not change based on the patient’s genotype. However, in the case of CYP3A5 and tacrolimus, a CYP3A5 expresser (i.e., CYP3A5 normal metabolizer or intermediate metabolizer) would require a higher recommended starting dose, and the CYP3A5 non-expresser (i.e., poor metabolizer) would require the standard recommended starting dose. | Strong |
PharmGKB-DPWG 1 Population: |
Genotype
|
CYP3A5: An increase of the initial dose can result in an increased chance of reaching a tacrolimus concentration within the target range before the start of therapeutic drug monitoring. However, there is no direct evidence that this results in improved clinical results. The genetic variation results in an increased conversion of tacrolimus to inactive metabolites and therefore a higher required dose. | LIVER TRANSPLANTATION In addition to the patient’s genotype, the metabolism of tacrolimus is also determined by the genotype of the transplanted liver. LIVER is also of the genotype HOMOZYGOUS EXPRESSOR: Use 2.5 times the normal initial dose. Adjustment of the dose should then be based on therapeutic drug monitoring. LIVER has a DIFFERENT genotype: There is insufficient evidence in the literature to support a dose recommendation. OTHER TRANSPLANTATION Use 2.5 times the initial dose that would yield the desired result in non-expressers. Adjustment of the dose should then be based on therapeutic drug monitoring. For example: One Dutch study found a median trough concentration for tacrolimus after three days of 9.4 ng/mL at an initial dose of 0.15 mg/kg twice daily for 5 homozygous kidney transplant patients. Their target value was 10 - 15 ng/mL. | N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical pharmacogenetics implementation consortium (CPIC) guidelines for CYP3A5 genotype and tacrolimus dosing. Clinical pharmacology and therapeutics. 2015. PMID:25801146
tafenoquine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Tafenoquine’s safety has been established for a G6PD enzyme activity ≥70% of normal. (Inclusion criteria for clinical trials involving tafenoquine included G6PD activity ≥70%.) | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
tamoxifen
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
1.0 |
CYP2D6: Lower endoxifen concentrations compared to normal metabolizers; higher risk of breast cancer recurrence, event-free and recurrence-free survival compared to normal metabolizers. | Consider hormonal therapy such as an aromatase inhibitor for postmenopausal women or aromatase inhibitor along with ovarian function suppression in premenopausal women, given that these approaches are superior to tamoxifen regardless of CYP2D6 genotype (PMID 26211827). If aromatase inhibitor use is contraindicated, consideration should be given to use a higher but FDA approved tamoxifen dose (40 mg/day)(PMID 27226358). Avoid CYP2D6 strong to weak inhibitors. | N/A | Optional |
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: This gene variation reduces the conversion of tamoxifen to the active metabolite endoxifen. This can result in reduced effectiveness. |
|
N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and Tamoxifen Therapy. Clinical pharmacology and therapeutics. 2018. PMID:29385237
tegafur
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
PharmGKB-DPWG 1 Population: |
Genotype
Activity Score
2 |
DPYD: The guideline does not provide a description of the impact of a DPYD activity score of 2 on tegafur. | The guideline does not provide a recommendation for tegafur in patients with a DPYD activity score of 2. | N/A | N/A |
Citations:
- Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of DPYD and fluoropyrimidines. European journal of human genetics : EJHG. 2019. PMID:31745289
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
tenoxicam
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer Activity Score
2.0 |
CYP2C9: Normal metabolism | Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals. | N/A | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and Nonsteroidal Anti-inflammatory Drugs. Clinical pharmacology and therapeutics. 2020. PMID:32189324
thioguanine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotypes
Activity Scores
|
|
Start with normal starting dose (e.g., 40-60 mg/m2/day) and adjust doses of thioguanine and of other myelosuppressive therapy without any special emphasis on thioguanine. Allow 2 weeks to reach steady-state after each dose adjustment (PMID 20354201, 11037857). | Normal starting doses vary by race/ethnicity and treatment regimens. If standard dose is below normal recommended dose, dose reduction might not be recommended for intermediate metabolizers. | Strong |
Population: |
Genotype
Phenotype
Normal Metabolizer |
NUDT15: The guideline does not provide a description of the impact of a normal metabolizer phenotype on thioguanine. | The guideline does not provide a recommendation for thioguanine in normal metabolizers | N/A | N/A |
Population: |
Genotype
Phenotype
Normal Metabolizer |
TPMT: The guideline does not provide a description of the impact of a normal metabolizer phenotype on thioguanine. | The guideline does not provide a recommendation for thioguanine in normal metabolizers. | N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical pharmacogenetics implementation consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing. Clinical pharmacology and therapeutics. 2011. PMID:21270794
- Clinical Pharmacogenetics Implementation Consortium Guidelines for Thiopurine Methyltransferase Genotype and Thiopurine Dosing: 2013 Update. Clinical pharmacology and therapeutics. 2013. PMID:23422873
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for thiopurine dosing based on TPMT and NUDT15 genotypes: 2018 update. Clinical pharmacology and therapeutics. 2018. PMID:30447069
tobramycin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
increased risk of aminoglycoside-induced hearing loss |
MT-RNR1: Very high risk of developing hearing loss if administered an aminoglycoside antibiotic. | Avoid aminoglycoside anitbiotics unless the high risk of permanent hearing loss is outweighed by the severity of infection and lack of safe or effective alternative therapies. | If no effective alternative to an aminoglycoside antibiotic is available, evaluate for hearing loss frequently during therapy and ensure that all appropriate precautions are utilized (e.g., lowest possible dose and duration, utilization of therapeutic drug monitoring, hydration, renal function monitoring). | Strong |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of aminoglycosides based on MT-RNR1 genotype. Clinical pharmacology and therapeutics. 2021. PMID:34032273
tolbutamide
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
toluidine blue
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low risk of acute hemolytic anemia | No reason to avoid ased on G6PD status | Toluidine blue classification strength is based on extrapolation from methylene blue data | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
tramadol
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
1.0 |
CYP2D6: Reduced O-desmethyltramadol (active metabolite) formation | Use tramadol label recommended age- or weight-specific dosing. If no response and opioid use is warranted, consider non-codeine opioid. | N/A | Optional |
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: The genetic variation reduces the conversion of tramadol to a metabolite with a higher activity. This can result in reduced analgesia. | It is not possible to provide a recommendation for dose adjustment, because the total analgesic effect changes when the ratio between the mother compound and the active metabolite changes.
|
N/A | N/A |
Citations:
- Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone). European journal of human genetics : EJHG. 2022. PMID:34267337
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for Codeine Therapy in the Context of Cytochrome P450 2D6 (CYP2D6) Genotype. Clinical pharmacology and therapeutics. 2011. PMID:22205192
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for cytochrome P450 2D6 (CYP2D6) genotype and codeine therapy: 2014 Update. Clinical pharmacology and therapeutics. 2014. PMID:24458010
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6, OPRM1, and COMT genotype and select opioid therapy. Clinical pharmacology and therapeutics. 2021. PMID:33387367
trimipramine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotypes
Activity Scores
|
|
Consider a 25% reduction of recommended starting dose. Utilize therapeutic drug monitoring to guide dose adjustments. | Patients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. Dosing recommendations only apply to higher initial doses of TCAs for treatment of conditions such as depression. See other considerations for dosing recommendations for conditions where lower initial doses are used, such as neuropathic pain. | Optional |
Citations:
- Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC®) for CYP2D6 and CYP2C19 Genotypes and Dosing of Tricyclic Antidepressants: 2016 Update. Clinical pharmacology and therapeutics. 2016. PMID:27997040
- Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Tricyclic Antidepressants. Clinical pharmacology and therapeutics. 2013. PMID:23486447
tropisetron
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
1.0 |
CYP2D6: Very limited data available for CYP2D6 intermediate metabolizers | Insufficient evidence demonstrating clinical impact based on CYP2D6 genotype. Initiate therapy with recommended starting dose. | Drug-drug interactions and other patient characteristics (e.g., age, renal function, and liver function) should be considered when selecting alternative therapy. | No Recommendation |
Citations:
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 Genotype and Use of Ondansetron and Tropisetron. Clinical pharmacology and therapeutics. 2016. PMID:28002639
venlafaxine
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: There are indications of an increased risk of side effects and a reduced chance of efficacy. The gene variation reduces the conversion of venlafaxine to the active metabolite O-desmethylvenlafaxine, whilst an association between high O-desmethylvenlafaxine/venlafaxine ratios and response without side effects was found. | It is not possible to offer adequately substantiated advice for dose reduction based on the literature.
|
N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
vitamin c
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
vitamin k
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal |
G6PD: Low-to-no risk of acute hemolytic anemia | No reason to avoid based on G6PD status | Strong |
Citations:
- Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype. Clinical pharmacology and therapeutics. 2022. PMID:36049896
voriconazole
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer |
CYP2C19: Normal voriconazole metabolism | Initiate therapy with recommended standard of care dosing | Further dose adjustments or selection of alternative therapy may be necessary due to other clinical factors, such as drug interactions, hepatic function, renal function, species, site of infection, therapeutic drug monitoring, and comorbidities. | Strong |
CPIC 1 Population: |
Genotype
Phenotype
Normal Metabolizer |
CYP2C19: Normal voriconazole metabolism | Initiate therapy with recommended standard of care dosing | Further dose adjustments or selection of alternative therapy may be necessary due to other clinical factors, such as drug interactions, hepatic function, renal function, species, site of infection, therapeutic drug monitoring, and comorbidities. | Strong |
PharmGKB-DPWG 1 |
No annotation for CYP2C19 *38/*38. |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
- Clinical Pharmacogenetics Implementation Consortium (CPIC®) Guideline for CYP2C19 and Voriconazole Therapy. Clinical pharmacology and therapeutics. 2016. PMID:27981572
warfarin
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
CPIC 1 Population: |
Genotype
|
Please follow the flow chart in figure 2 of the CPIC warfarin guideline to determine the appropriate dosing recommendation.
The CPIC warfarin guideline only considers a single SNV in VKORC1 (rs9923231), which has varying frequency among different ancestral populations, and largely explains the differences in average dose requirements between people of European, African, and Asian descents. While other functional variants in VKORC1 have been associated with warfarin resistance (high dose requirements), there are currently no CPIC recommendations for how to use these other variants in warfarin dosing. An alternate name for rs9923231 is -1639G>A (note that VKORC1 is on the negative chromosomal strand, so displayed alleles are complemented).
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|||
Population: |
Genotype
Phenotype
Normal Metabolizer |
CYP2C9: The guideline does not provide a description of the impact of a normal metabolizer phenotype on warfarin. | The guideline does not provide a recommendation for warfarin in normal metabolizers. | N/A | N/A |
Population: |
Genotype
|
VKORC1: The guideline does not provide a description of the impact of the VKORC1 rs9923231 CC genotype (-1639 GG genotype) on warfarin. | The guideline does not provide a recommendation for warfarin in patients with the VKORC1 rs9923231 CC genotype (-1639 GG genotype). | N/A | N/A |
Citations:
- Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 Genotypes and Warfarin Dosing. Clinical pharmacology and therapeutics. 2011. PMID:21900891
- Clinical pharmacogenetics implementation consortium (cpic) guideline for pharmacogenetics-guided warfarin dosing: 2017 update. Clinical pharmacology and therapeutics. 2017. PMID:28198005
zuclopenthixol
Guideline | Genes | Implications | Recommendation | Comments | Classification |
---|---|---|---|---|---|
PharmGKB-DPWG 1 Population: |
Genotype
Phenotype
Intermediate Metabolizer Activity Score
0.5-1 |
CYP2D6: The risk of side effects may be elevated. The genetic variation leads to decreased conversion of zuclopentixol, which causes the plasma concentration to be approximately 1.35-fold higher. | Use 75% of the standard dose. | N/A | N/A |
Citations:
- Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
Section III: Allele Matching Details
- ABCG2 allele match data
- CACNA1S allele match data
- CFTR allele match data
- CYP2B6 allele match data
- CYP2C19 allele match data
- CYP2C9 allele match data
- CYP2D6 allele match data
- CYP3A4 allele match data
- CYP3A5 allele match data
- CYP4F2 allele match data
- DPYD allele match data
- G6PD allele match data
- HLA-B allele match data
- IFNL3/4 allele match data
- MT-RNR1 allele match data
- NUDT15 allele match data
- RYR1 allele match data
- SLCO1B1 allele match data
- TPMT allele match data
- UGT1A1 allele match data
- VKORC1 allele match data
No data provided for F5, HLA-A.
ABCG2 allele match data
Genotype Matched: | rs2231142 reference (G)/rs2231142 reference (G) |
---|---|
Phasing Status: |
Unphased PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out. |
Calls at Positions
Position in VCF | RSID | Call in VCF | Reference | Related Alleles | Warnings |
---|---|---|---|---|---|
chr4:88131171 | rs2231142 | G/G | G | rs2231142 variant (T) |
|
CACNA1S allele match data
Genotype Matched: | Reference/Reference |
---|---|
Phasing Status: |
Unphased PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out. |
Calls at Positions
Position in VCF | RSID | Call in VCF | Reference | Related Alleles | Warnings |
---|---|---|---|---|---|
chr1:201060815 | rs1800559 | C/C | C | c.3257G>A |
|
chr1:201091993 | rs772226819 | G/G | G | c.520C>T |
|
CFTR allele match data
Genotype Matched: | No CPIC variants found |
---|---|
Phasing Status: |
Unphased PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out. |
Calls at Positions
Position in VCF | RSID | Call in VCF | Reference | Related Alleles | Warnings |
---|---|---|---|---|---|
chr7:117509035 | rs397508256 | G/G | G | E56K |
|
chr7:117509069 | rs368505753 | C/C | C | P67L |
|
chr7:117509089 | rs115545701 | C/C | C | R74W |
|
chr7:117530953 | rs113993958 | G/G | G | D110H |
|
chr7:117530955 | rs397508537 | C/C | C | D110E |
|
chr7:117530974 | rs77834169 | C/C | C | R117C |
|
chr7:117530975 | rs78655421 | G/G | G | R117H |
|
chr7:117534318 | rs80282562 | G/G | G | G178R |
|
chr7:117534363 | rs397508759 | G/G | G | E193K |
|
chr7:117534368 | rs397508761 | A/A | A | 711+3A->G |
|
chr7:117535285 | rs121908752 | T/T | T | L206W |
|
chr7:117540270 | rs77932196 | G/G | G | R347H |
|
chr7:117540285 | rs121908753 | G/G | G | R352Q |
|
chr7:117548795 | rs74551128 | C/C | C | A455E |
|
chr7:117587799 | rs121908757 | A/A | A | S549R(A>C) |
|
chr7:117587800 | rs121908755 | G/G | G | S549N |
|
chr7:117587801 | rs121909005 | T/T | T | S549R(T>G) |
|
chr7:117587805 | rs121909013 | G/G | G | G551S |
|
chr7:117587806 | rs75527207 | G/G | G | G551D |
|
chr7:117590409 | rs397508288 | A/A | A | D579G |
|
chr7:117594930 | rs397508387 | G/G | G | E831X |
|
chr7:117602868 | rs80224560 | G/G | G | 2789+5G->A |
|
chr7:117603708 | rs397508442 | C/C | C | S945L |
|
chr7:117606695 | rs141033578 | C/C | C | S977F |
|
chr7:117611555 | rs76151804 | A/A | A | 3272-26A->G |
|
chr7:117611595 | rs150212784 | T/T | T | F1052V |
|
chr7:117611620 | rs397508513 | A/A | A | K1060T |
|
chr7:117611640 | rs121909020 | G/G | G | A1067T |
|
chr7:117611646 | rs200321110 | G/G | G | G1069R |
|
chr7:117611649 | rs202179988 | C/C | C | R1070W |
|
chr7:117611650 | rs78769542 | G/G | G | R1070Q |
|
chr7:117611663 | rs186045772 | T/T | T | F1074L |
|
chr7:117614699 | rs75541969 | G/G | G | D1152H |
|
chr7:117639961 | rs75039782 | C/C | C | 3849+10kbC->T |
|
chr7:117642451 | rs267606723 | G/G | G | G1244E |
|
chr7:117642472 | rs74503330 | G/G | G | S1251N |
|
chr7:117642483 | rs121909041 | T/T | T | S1255P |
|
chr7:117642528 | rs11971167 | G/G | G | D1270N |
|
chr7:117664770 | rs193922525 | G/G | G | G1349D |
|
CYP2B6 allele match data
Genotype Matched: | *1/*1 |
---|---|
Phasing Status: |
Unphased PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out. |
Calls at Positions
Position in VCF | RSID | Call in VCF | Reference | Related Alleles | Warnings |
---|---|---|---|---|---|
chr19:40991224 | rs34223104 | T/T | T | *22 *34 *35 *36 |
|
chr19:40991367 | rs34883432 | A/A | A | *10 |
|
chr19:40991369 | rs8192709 | C/C | C | *2 *10 |
|
chr19:40991381 | rs33973337 | A/A | A | *17 |
|
chr19:40991388 | rs33980385 | A/A | A | *17 |
|
chr19:40991390 | rs33926104 | C/C | C | *17 |
|
chr19:40991391 | rs34284776 | G/G | G | *17 |
|
chr19:40991441 | rs35303484 | A/A | A | *11 |
|
chr19:41004015 | rs281864907 | T/T | T | *38 |
|
chr19:41004125 | rs36060847 | G/G | G | *12 |
|
chr19:41004133 | rs148009906 | G/G | G | *44 |
|
chr19:41004158 | rs186335453 | G/G | G | *35 |
|
chr19:41004303 | rs139801276 | T/T | T | *35 |
|
chr19:41004377 | rs12721655 | A/A | A | *8 *13 |
|
chr19:41004380 | rs535039125 | C/C | C | *39 |
|
chr19:41004381 | rs35773040 | G/G | G | *14 |
|
chr19:41004406 | rs145884402 | G/G | G | *35 |
|
chr19:41006919 | rs3826711 | C/C | C | *26 |
|
chr19:41006923 | rs36056539 | C/C | C | *20 |
|
chr19:41006936 | rs3745274 | G/G | G | *6 *7 *9 *13 *19 *20 *26 *34 *36 *37 *38 *39 *40 *41 *42 *43 |
|
chr19:41006967 | rs58871670 | G/G | G | *45 |
|
chr19:41006968 | rs373489637 | T/T | T | *37 |
|
chr19:41007013 | rs36079186 | T/T | T | *27 *35 |
|
chr19:41009313 | A/A | A | *46 |
|
|
chr19:41009350 | rs45482602 | C/C | C | *3 |
|
chr19:41009358 | rs2279343 | A/A | A | *4 *6 *7 *13 *18 *19 *20 *26 *34 *36 *37 *38 *39 *40 *41 *42 *43 |
|
chr19:41010006 | rs139029625 | G/G | G | *35 |
|
chr19:41010088 | rs34698757 | C/C | C | *28 |
|
chr19:41010108 | rs193922917 | C/C | C | *31 |
|
chr19:41012316 | rs28399499 | T/T | T | *18 |
|
chr19:41012339 | rs34826503 | C/C | C | *19 |
|
chr19:41012393 | rs754621576 | T/T | T | *47 |
|
chr19:41012394 | rs780991919 | A/A | A | *47 |
|
chr19:41012465 | rs34097093 | C/C | C | *28 |
|
chr19:41012466 | rs200458614 | G/G | G | *40 |
|
chr19:41012471 | rs201500445 | T/T | T | *41 |
|
chr19:41012478 | rs200238771 | T/T | T | *48 |
|
chr19:41012693 | rs35979566 | T/T | T | *15 |
|
chr19:41012740 | rs193922918 | G/G | G | *32 |
|
chr19:41012803 | rs35010098 | C/C | C | *21 |
|
chr19:41016652 | rs764288403 | G/G | G | *49 |
|
chr19:41016679 | rs374099483 | G/G | G | *42 |
|
chr19:41016726 | rs3211369 | A/A | A | *23 |
|
chr19:41016741 | rs117872433 | G/G | G | *43 |
|
chr19:41016778 | rs564083989 | G/G | G | *24 |
|
chr19:41016805 | A/A | A | *25 |
|
|
chr19:41016810 | rs3211371 | C/C | C | *5 *7 *33 *34 |
|
CYP2C19 allele match data
Genotype Matched: | *38/*38 |
---|---|
Phasing Status: |
Unphased PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out. |
Calls at Positions
Position in VCF | RSID | Call in VCF | Reference | Related Alleles | Warnings |
---|---|---|---|---|---|
chr10:94761900 | rs12248560 | C/C | C | *1 *4 *17 |
|
chr10:94762706 | rs28399504 | A/A | A | *1 *4 |
|
chr10:94762712 | rs367543002 | C/C | C | *1 *34 |
|
chr10:94762715 | rs367543003 | T/T | T | *1 *34 |
|
chr10:94762755 | rs55752064 | T/T | T | *1 *14 |
|
chr10:94762760 | rs17882687 | A/A | A | *1 *15 *28 *35 *39 |
|
chr10:94762788 | rs1564656981 | A/A | A | *1 *29 |
|
chr10:94762856 | rs1564657013 | A/A | A | *1 *19 |
|
chr10:94775106 | rs145328984 | C/C | C | *1 *30 |
|
chr10:94775121 | rs1564660997 | C/C | C | *1 *31 |
|
chr10:94775160 | rs118203756 | G/G | G | *1 *23 |
|
chr10:94775185 | rs1288601658 | A/A | A | *1 *32 |
|
chr10:94775367 | rs12769205 | A/A | A | *1 *2 *35 |
|
chr10:94775416 | rs41291556 | T/T | T | *1 *8 |
|
chr10:94775423 | rs17885179 | A/A | A | *1 *39 |
|
chr10:94775453 | rs72552267 | G/G | G | *1 *6 |
|
chr10:94775489 | rs17884712 | G/G | G | *1 *9 |
|
chr10:94775507 | rs58973490 | G/G | G | *1 *2 *11 |
|
chr10:94780574 | rs140278421 | G/G | G | *1 *22 |
|
chr10:94780579 | rs370803989 | G/G | G | *1 *33 |
|
chr10:94780653 | rs4986893 | G/G | G | *1 *3 |
|
chr10:94781858 | rs6413438 | C/C | C | *1 *10 |
|
chr10:94781859 | rs4244285 | G/G | G | *1 *2 |
|
chr10:94781944 | rs375781227 | G/G | G | *1 *26 |
|
chr10:94781999 | rs72558186 | T/T | T | *1 *7 |
|
chr10:94842861 | rs138142612 | G/G | G | *1 *18 |
|
chr10:94842866 | rs3758581 | A/A | A | *1 *2 *3 *4 *5 *6 *7 *8 *9 *10 *11 *12 *13 *14 *15 *17 *18 *19 *22 *23 *24 *25 *26 *28 *29 *31 *32 *33 *35 *39 |
|
chr10:94842879 | rs118203757 | G/G | G | *1 *24 |
|
chr10:94842995 | rs113934938 | G/G | G | *1 *28 |
|
chr10:94849995 | rs17879685 | C/C | C | *1 *13 |
|
chr10:94852738 | rs56337013 | C/C | C | *1 *5 |
|
chr10:94852765 | rs192154563 | C/C | C | *1 *16 |
|
chr10:94852785 | rs118203759 | C/C | C | *1 *25 |
|
chr10:94852914 | rs55640102 | A/A | A | *1 *12 |
|
CYP2C9 allele match data
Genotype Matched: | *1/*1 |
---|---|
Phasing Status: |
Unphased PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out. |
Calls at Positions
Position in VCF | RSID | Call in VCF | Reference | Related Alleles | Warnings |
---|---|---|---|---|---|
chr10:94938683 | rs114071557 | A/A | A | *36 |
|
chr10:94938719 | T/T | T | *80 |
|
|
chr10:94938737 | rs67807361 | C/C | C | *7 |
|
chr10:94938771 | rs142240658 | C/C | C | *21 |
|
chr10:94938788 | C/C | C | *83 |
|
|
chr10:94938800 | rs1364419386 | G/G | G | *76 |
|
chr10:94938803 | rs2031308986 | A/A | A | *22 |
|
chr10:94938828 | rs564813580 | A/A | A | *37 |
|
chr10:94941897 | rs371055887 | G/G | G | *20 |
|
chr10:94941915 | G/G | G | *23 |
|
|
chr10:94941958 | rs72558187 | T/T | T | *13 |
|
chr10:94941975 | G/G | G | *77 |
|
|
chr10:94941976 | G/G | G | *38 |
|
|
chr10:94941982 | rs762239445 | G/G | G | *39 |
|
chr10:94942018 | T/T | T | *40 |
|
|
chr10:94942205 | rs1304490498 | CAATGGAAA GA/ CAATGGAAA GA |
CAATGGAAA GA |
*25 |
|
chr10:94942216 | rs774607211 | A/A | A | *41 |
|
chr10:94942230 | rs767576260 | C/C | C | *43 |
|
chr10:94942231 | rs12414460 | G/G | G | *42 |
|
chr10:94942233 | rs375805362 | C/C | C | *62 |
|
chr10:94942234 | rs72558189 | G/G | G | *14 *35 |
|
chr10:94942243 | rs1375956433 | T/T | T | *78 |
|
chr10:94942249 | rs200965026 | C/C | C | *26 *44 |
|
chr10:94942254 | rs199523631 | C/C | C | *45 |
|
chr10:94942255 | rs200183364 | G/G | G | *33 |
|
chr10:94942290 | rs1799853 | C/C | C | *2 *35 *61 |
|
chr10:94942291 | rs141489852 | G/G | G | *63 |
|
chr10:94942305 | rs754487195 | G/G | G | *46 |
|
chr10:94942306 | rs1289704600 | C/C | C | *72 |
|
chr10:94942308 | rs17847037 | C/C | C | *73 |
|
chr10:94942309 | rs7900194 | G/G | G | *8 *27 |
|
chr10:94947782 | rs72558190 | C/C | C | *15 |
|
chr10:94947785 | rs774550549 | C/C | C | *47 |
|
chr10:94947869 | A/A | A | *69 |
|
|
chr10:94947907 | A/A | A | *57 |
|
|
chr10:94947917 | rs1326630788 | T/T | T | *48 |
|
chr10:94947938 | rs2031531005 | A/A | A | *28 |
|
chr10:94947939 | rs370100007 | G/G | G | *74 |
|
chr10:94949129 | A/A | A | *49 |
|
|
chr10:94949144 | C/C | C | *50 |
|
|
chr10:94949145 | rs772782449 | C/C | C | *82 |
|
chr10:94949161 | AT/AT | AT | *85 |
|
|
chr10:94949217 | rs2256871 | A/A | A | *9 |
|
chr10:94949280 | rs9332130 | A/A | A | *10 *71 |
|
chr10:94949281 | rs9332131 | GA/GA | GA | *6 |
|
chr10:94972119 | rs182132442 | C/C | C | *29 |
|
chr10:94972123 | C/C | C | *64 |
|
|
chr10:94972134 | A/A | A | *51 |
|
|
chr10:94972179 | rs72558192 | A/A | A | *16 |
|
chr10:94972180 | rs988617574 | C/C | C | *52 |
|
chr10:94972183 | A/A | A | *81 |
|
|
chr10:94972233 | rs1237225311 | C/C | C | *53 |
|
chr10:94981199 | G/G | G | *65 |
|
|
chr10:94981201 | rs57505750 | T/T | T | *31 |
|
chr10:94981224 | rs28371685 | C/C | C | *11 |
|
chr10:94981225 | rs367826293 | G/G | G | *34 |
|
chr10:94981230 | rs1274535931 | C/C | C | *58 |
|
chr10:94981250 | rs750820937 | C/C | C | *54 |
|
chr10:94981258 | rs1297714792 | C/C | C | *79 |
|
chr10:94981281 | rs749060448 | G/G | G | *24 |
|
chr10:94981296 | rs1057910 | A/A | A | *3 *18 *68 |
|
chr10:94981297 | rs56165452 | T/T | T | *4 |
|
chr10:94981301 | rs28371686 | C/C | C | *5 |
|
chr10:94981302 | rs1250577724 | C/C | C | *55 |
|
chr10:94981305 | rs578144976 | C/C | C | *66 |
|
chr10:94981365 | C/C | C | *17 |
|
|
chr10:94981371 | rs542577750 | G/G | G | *68 |
|
chr10:94986042 | rs764211126 | A/A | A | *56 |
|
chr10:94986073 | rs72558193 | A/A | A | *18 |
|
chr10:94986136 | rs1254213342 | A/A | A | *75 |
|
chr10:94986174 | rs1441296358 | G/G | G | *84 |
|
chr10:94988852 | rs776908257 | C/C | C | *67 |
|
chr10:94988855 | A/A | A | *59 |
|
|
chr10:94988880 | G/G | G | *70 |
|
|
chr10:94988917 | rs769942899 | G/G | G | *19 |
|
chr10:94988925 | rs202201137 | A/A | A | *61 |
|
chr10:94988955 | rs767284820 | T/T | T | *60 |
|
chr10:94988984 | rs781583846 | G/G | G | *30 |
|
chr10:94989020 | rs9332239 | C/C | C | *12 *71 |
|
chr10:94989023 | rs868182778 | G/G | G | *32 |
|
Other Positions of Interest
Position in VCF | RSID | Call in VCF |
---|---|---|
chr10:94645745 | rs12777823 | G/G |
CYP2D6 allele match data
Genotype Reported: | *1/*3 |
---|
CYP3A4 allele match data
Genotype Matched: | *1/*1 |
---|---|
Phasing Status: |
Unphased PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out. |
Calls at Positions
Position in VCF | RSID | Call in VCF | Reference | Related Alleles | Warnings |
---|---|---|---|---|---|
chr7:99758183 | rs67666821 | G/G | G | *20 |
|
chr7:99760836 | rs4986913 | G/G | G | *19 |
|
chr7:99760901 | rs4986910 | A/A | A | *3 *37 *38 |
|
chr7:99760956 | rs774109750 | T/T | T | *34 |
|
chr7:99762047 | rs4986909 | G/G | G | *13 |
|
chr7:99762177 | rs12721629 | G/G | G | *12 |
|
chr7:99762186 | rs756833413 | C/C | C | *33 |
|
chr7:99762206 | rs67784355 | G/G | G | *11 *38 |
|
chr7:99763877 | rs368296206 | A/A | A | *32 |
|
chr7:99763909 | rs1303250043 | G/G | G | *31 |
|
chr7:99763925 | T/T | T | *21 |
|
|
chr7:99764003 | rs28371759 | A/A | A | *18 |
|
chr7:99766411 | rs4646438 | G/G | G | *6 |
|
chr7:99766440 | rs138105638 | G/G | G | *26 |
|
chr7:99768360 | rs55785340 | A/A | A | *2 |
|
chr7:99768371 | rs55901263 | G/G | G | *5 |
|
chr7:99768424 | rs113667357 | T/T | T | *24 |
|
chr7:99768458 | rs4987161 | A/A | A | *17 |
|
chr7:99768470 | rs12721627 | G/G | G | *16 |
|
chr7:99768693 | rs35599367 | G/G | G | *22 *37 |
|
chr7:99769769 | rs4986908 | C/C | C | *10 |
|
chr7:99769781 | rs72552798 | C/C | C | *9 |
|
chr7:99769804 | rs4986907 | C/C | C | *15 |
|
chr7:99769805 | rs57409622 | G/G | G | *23 |
|
chr7:99770165 | rs72552799 | C/C | C | *8 |
|
chr7:99770166 | rs778013004 | G/G | G | *30 |
|
chr7:99770202 | rs55951658 | T/T | T | *4 |
|
chr7:99770217 | rs1449865051 | A/A | A | *29 |
|
chr7:99778079 | rs56324128 | C/C | C | *7 |
|
chr7:99784018 | rs570051168 | G/G | G | *28 |
|
chr7:99784038 | rs12721634 | A/A | A | *14 |
|
chr7:99784075 | rs188389063 | G/G | G | *35 |
|
CYP3A5 allele match data
Genotype Matched: | *1/*1 |
---|---|
Phasing Status: |
Unphased PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out. |
Calls at Positions
Position in VCF | RSID | Call in VCF | Reference | Related Alleles | Warnings |
---|---|---|---|---|---|
chr7:99652770 | rs41303343 | T/T | T | *7 |
|
chr7:99660516 | rs28383479 | C/C | C | *9 |
|
chr7:99665212 | rs10264272 | C/C | C | *6 |
|
chr7:99672916 | rs776746 | T/T | T | *3 |
|
chr7:99676198 | rs55817950 | G/G | G | *8 |
|
CYP4F2 allele match data
Genotype Matched: | *1/*1 |
---|---|
Phasing Status: |
Unphased PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out. |
Calls at Positions
Position in VCF | RSID | Call in VCF | Reference | Related Alleles | Warnings |
---|---|---|---|---|---|
chr19:15878779 | rs3093200 | G/G | G | *5 |
|
chr19:15879621 | rs2108622 | C/C | C | *3 *4 |
|
chr19:15890405 | rs3093153 | C/C | C | *6 |
|
chr19:15897566 | rs114099324 | C/C | C | *7 |
|
chr19:15897578 | rs3093105 | A/A | A | *2 *4 |
|
DPYD allele match data
Genotype Matched: | Reference/Reference |
---|---|
Phasing Status: |
Unphased |
Calls at Positions
Position in VCF | RSID | Call in VCF | Reference | Related Alleles | Warnings |
---|---|---|---|---|---|
chr1:97078987 | rs114096998 | G/G | G | c.3067C>A |
|
chr1:97078993 | rs148799944 | C/C | C | c.3061G>C |
|
chr1:97079005 | rs140114515 | C/C | C | c.3049G>A |
|
chr1:97079071 | rs1801268 | C/C | C | c.2983G>T (*10) |
|
chr1:97079076 | rs139459586 | A/A | A | c.2978T>G |
|
chr1:97079077 | rs202144771 | G/G | G | c.2977C>T |
|
chr1:97079121 | rs72547601 | T/T | T | c.2933A>G |
|
chr1:97079133 | rs72547602 | T/T | T | c.2921A>T |
|
chr1:97079139 | rs145529148 | T/T | T | c.2915A>G |
|
chr1:97082365 | rs141044036 | T/T | T | c.2872A>G |
|
chr1:97082391 | rs67376798 | T/T | T | c.2846A>T |
|
chr1:97098598 | rs1801267 | C/C | C | c.2657G>A (*9B) |
|
chr1:97098599 | rs147545709 | G/G | G | c.2656C>T |
|
chr1:97098616 | rs55674432 | C/C | C | c.2639G>T |
|
chr1:97098632 | rs201035051 | T/T | T | c.2623A>C |
|
chr1:97193109 | rs60139309 | T/T | T | c.2582A>G |
|
chr1:97193209 | rs200687447 | C/C | C | c.2482G>A |
|
chr1:97234958 | rs199634007 | G/G | G | c.2336C>A |
|
chr1:97234991 | rs56005131 | G/G | G | c.2303C>A |
|
chr1:97305279 | rs112766203 | G/G | G | c.2279C>T |
|
chr1:97305363 | rs60511679 | A/A | A | c.2195T>G |
|
chr1:97305364 | rs1801160 | C/C | C | c.2194G>A (*6) |
|
chr1:97305372 | rs146529561 | G/G | G | c.2186C>T |
|
chr1:97306195 | rs145548112 | C/C | C | c.2161G>A |
|
chr1:97373598 | rs137999090 | C/C | C | c.2021G>A |
|
chr1:97373629 | rs138545885 | C/C | C | c.1990G>T |
|
chr1:97382461 | rs55971861 | T/T | T | c.1906A>C |
|
chr1:97450058 | rs3918290 | C/C | C | c.1905+1G>A (*2A) |
|
chr1:97450059 | rs3918289 | G/G | G | c.1905C>G |
|
chr1:97450065 | rs72549303 | TG/TG | TG | c.1898delC (*3) |
|
chr1:97450068 | rs17376848 | A/A | A | c.1896T>C |
|
chr1:97450168 | rs147601618 | A/A | A | c.1796T>C |
|
chr1:97450187 | rs145773863 | C/C | C | c.1777G>A |
|
chr1:97450189 | rs138616379 | C/C | C | c.1775G>A |
|
chr1:97450190 | rs59086055 | G/G | G | c.1774C>T |
|
chr1:97515784 | rs201615754 | C/C | C | c.1682G>T |
|
chr1:97515787 | rs55886062 | A/A | A | c.1679T>G (*13) |
|
chr1:97515839 | rs1801159 | T/T | T | c.1627A>G (*5) |
|
chr1:97515851 | rs142619737 | C/C | C | c.1615G>A |
|
chr1:97515865 | rs1801158 | C/C | C | c.1601G>A (*4) |
|
chr1:97515889 | rs190951787 | G/G | G | c.1577C>G |
|
chr1:97515923 | rs148994843 | C/C | C | c.1543G>A |
|
chr1:97549565 | rs138391898 | C/C | C | c.1519G>A |
|
chr1:97549600 | rs111858276 | T/T | T | c.1484A>G |
|
chr1:97549609 | rs72549304 | G/G | G | c.1475C>T |
|
chr1:97549681 | rs199549923 | G/G | G | c.1403C>A |
|
chr1:97549713 | rs57918000 | G/G | G | c.1371C>T |
|
chr1:97549726 | rs144395748 | G/G | G | c.1358C>G |
|
chr1:97549735 | rs72975710 | G/G | G | c.1349C>T |
|
chr1:97573785 | rs186169810 | A/A | A | c.1314T>G |
|
chr1:97573805 | rs142512579 | C/C | C | c.1294G>A |
|
chr1:97573821 | rs764666241 | C/C | C | c.1278G>T |
|
chr1:97573839 | rs200064537 | A/A | A | c.1260T>A |
|
chr1:97573863 | rs56038477 | C/C | C | c.1129-5923C>G, c.1236G>A (HapB3) |
|
chr1:97573881 | rs61622928 | C/C | C | c.1218G>A |
|
chr1:97573918 | rs143815742 | C/C | C | c.1181G>T |
|
chr1:97573919 | rs140602333 | G/G | G | c.1180C>T |
|
chr1:97573943 | rs78060119 | C/C | C | c.1156G>T (*12) |
|
chr1:97579893 | rs75017182 | G/G | G | c.1129-5923C>G, c.1236G>A (HapB3) |
|
chr1:97593238 | rs72549305 | T/T | T | c.1108A>G |
|
chr1:97593289 | rs143154602 | G/G | G | c.1057C>T |
|
chr1:97593322 | rs183385770 | C/C | C | c.1024G>A |
|
chr1:97593343 | rs72549306 | C/C | C | c.1003G>T (*11) |
|
chr1:97593379 | rs201018345 | C/C | C | c.967G>A |
|
chr1:97595083 | rs145112791 | G/G | G | c.934C>T |
|
chr1:97595088 | rs150437414 | A/A | A | c.929T>C |
|
chr1:97595149 | rs146356975 | T/T | T | c.868A>G |
|
chr1:97679170 | rs45589337 | T/T | T | c.775A>G |
|
chr1:97691776 | rs1801266 | G/G | G | c.703C>T (*8) |
|
chr1:97699399 | rs72549307 | T/T | T | c.632A>G |
|
chr1:97699430 | rs72549308 | T/T | T | c.601A>C |
|
chr1:97699474 | rs115232898 | T/T | T | c.557A>G |
|
chr1:97699506 | rs6670886 | C/C | C | c.525G>A |
|
chr1:97699533 | rs139834141 | C/C | C | c.498G>A |
|
chr1:97699535 | rs2297595 | T/T | T | c.496A>G |
|
chr1:97721542 | rs200562975 | T/T | T | c.451A>G |
|
chr1:97721650 | rs141462178 | T/T | T | c.343A>G |
|
chr1:97740400 | rs150385342 | C/C | C | c.313G>A |
|
chr1:97740410 | rs72549309 | GATGA/ GATGA |
GATGA | c.295_298delTCAT (*7) |
|
chr1:97883329 | rs1801265 | A/A | A | c.85T>C (*9A) |
|
chr1:97883352 | rs80081766 | C/C | C | c.62G>A |
|
chr1:97883353 | rs72549310 | G/G | G | c.61C>T |
|
chr1:97883368 | rs150036960 | G/G | G | c.46C>G |
|
G6PD allele match data
Genotype Matched: | B (reference)/B (reference) |
---|---|
Phasing Status: |
Unphased PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out. |
Calls at Positions
Position in VCF | RSID | Call in VCF | Reference | Related Alleles | Warnings |
---|---|---|---|---|---|
chrX:154532046 | A/A | A | Bangkok Noi |
|
|
chrX:154532055 | CTCT/CTCT | CTCT | Brighton |
|
|
chrX:154532082 | G/G | G | Arakawa |
|
|
chrX:154532083 | G/G | G | Buenos Aires |
|
|
chrX:154532085 | C/C | C | Campinas |
|
|
chrX:154532086 | C/C | C | Fukaya |
|
|
chrX:154532203 | rs137852348 | G/G | G | Split |
|
chrX:154532231 | T/T | T | Laibin |
|
|
chrX:154532245 | rs137852344 | G/G | G | Neapolis |
|
chrX:154532257 | rs72554664 | C/C | C | Kaiping, Anant, Dhon, Sapporo-like, Wosera |
|
chrX:154532258 | G/G | G | Flores Kamiube, Keelung |
|
|
chrX:154532264 | rs782608284 | C/C | C | Yunan |
|
chrX:154532265 | C/C | C | Nice |
|
|
chrX:154532269 | rs72554665 | C/C | C | Bangkok Noi Canton, Taiwan-Hakka, Gifu-like, Agrigento-like Cosenza |
|
chrX:154532278 | T/T | T | Amiens |
|
|
chrX:154532279 | C/C | C | Figuera da Foz |
|
|
chrX:154532389 | rs137852324 | C/C | C | Andalus |
|
chrX:154532390 | rs398123546 | G/G | G | Hermoupolis Honiara Union,Maewo, Chinese-2, Kalo |
|
chrX:154532392 | A/A | A | Harima |
|
|
chrX:154532403 | C/C | C | Cassano Hermoupolis |
|
|
chrX:154532408 | T/T | T | S. Antioco |
|
|
chrX:154532411 | rs137852317 | C/C | C | Santiago de Cuba, Morioka |
|
chrX:154532432 | G/G | G | Telti/Kobe |
|
|
chrX:154532434 | rs137852337 | C/C | C | Pawnee |
|
chrX:154532458 | A/A | A | Sumare |
|
|
chrX:154532459 | rs782098548 | C/C | C | Surabaya |
|
chrX:154532570 | G/G | G | Georgia |
|
|
chrX:154532590 | G/G | G | 202G>A_376A>G_1264C>G |
|
|
chrX:154532608 | C/C | C | Tokyo, Fukushima |
|
|
chrX:154532623 | T/T | T | Munich |
|
|
chrX:154532625 | rs137852336 | C/C | C | Japan, Shinagawa Kawasaki |
|
chrX:154532626 | rs137852323 | C/C | C | Riverside |
|
chrX:154532628 | G/G | G | Suwalki |
|
|
chrX:154532629 | G/G | G | Utrecht |
|
|
chrX:154532634 | T/T | T | Abeno |
|
|
chrX:154532639 | C/C | C | Clinic |
|
|
chrX:154532649 | G/G | G | Covao do Lobo |
|
|
chrX:154532661 | T/T | T | Anadia |
|
|
chrX:154532662 | rs137852325 | C/C | C | Puerto Limon |
|
chrX:154532667 | G/G | G | Bari |
|
|
chrX:154532674 | rs137852335 | C/C | C | Alhambra |
|
chrX:154532676 | rs137852316 | C/C | C | Nashville, Anaheim, Portici |
|
chrX:154532677 | G/G | G | Wisconsin |
|
|
chrX:154532679 | A/A | A | Krakow |
|
|
chrX:154532688 | T/T | T | Praha |
|
|
chrX:154532692 | T/T | T | Hartford |
|
|
chrX:154532694 | rs137852321 | C/C | C | Beverly Hills, Genova, Iwate, Niigata, Yamaguchi |
|
chrX:154532695 | rs137852334 | G/G | G | Guadalajara Mt Sinai |
|
chrX:154532698 | rs137852320 | T/T | T | Iowa, Walter Reed, Springfield |
|
chrX:154532699 | G/G | G | Madrid |
|
|
chrX:154532700 | C/C | C | Lynwood |
|
|
chrX:154532701 | rs137852322 | A/A | A | Tomah |
|
chrX:154532713 | A/A | A | Olomouc |
|
|
chrX:154532715 | A/A | A | Riley |
|
|
chrX:154532716 | T/T | T | Calvo Mackenna |
|
|
chrX:154532722 | rs371489738 | C/C | C | Montpellier |
|
chrX:154532752 | CGGCCTTGC GCTCGTTCA G/ CGGCCTTGC GCTCGTTCA G |
CGGCCTTGC GCTCGTTCA G |
Tondela |
|
|
chrX:154532758 | T/T | T | Tenri |
|
|
chrX:154532765 | rs137852329 | G/G | G | Aachen Loma Linda |
|
chrX:154532772 | rs137852345 | G/G | G | Serres |
|
chrX:154532773 | C/C | C | Iwatsuki |
|
|
chrX:154532797 | rs137852333 | G/G | G | Ierapetra |
|
chrX:154532802 | C/C | C | Partenope |
|
|
chrX:154532945 | rs34193178 | C/C | C | Mira d'Aire |
|
chrX:154532956 | rs398123544 | T/T | T | Cincinnati |
|
chrX:154532969 | rs137852342 | G/G | G | Chinese-5 |
|
chrX:154532987 | T/T | T | Torun |
|
|
chrX:154532989 | G/G | G | Fushan |
|
|
chrX:154532990 | rs5030869 | C/C | C | Chatham |
|
chrX:154533004 | C/C | C | Insuli |
|
|
chrX:154533012 | CGTGGGGTC GTCCAGGTA CCCTTTG/ CGTGGGGTC GTCCAGGTA CCCTTTG |
CGTGGGGTC GTCCAGGTA CCCTTTG |
Nara |
|
|
chrX:154533016 | G/G | G | Farroupilha |
|
|
chrX:154533025 | rs76723693 | A/A | A | A- 968C_376G |
|
chrX:154533029 | rs137852347 | A/A | A | Rehevot |
|
chrX:154533031 | C/C | C | Manhattan |
|
|
chrX:154533044 | rs137852339 | C/C | C | Kalyan-Kerala, Jamnaga, Rohini |
|
chrX:154533064 | C/C | C | Ludhiana |
|
|
chrX:154533072 | C/C | C | Omiya |
|
|
chrX:154533077 | C/C | C | Seoul |
|
|
chrX:154533083 | C/C | C | West Virginia |
|
|
chrX:154533122 | rs137852327 | C/C | C | Ananindeua Hechi Viangchan, Jammu |
|
chrX:154533586 | rs74575103 | C/C | C | Montalbano |
|
chrX:154533587 | G/G | G | Osaka |
|
|
chrX:154533589 | A/A | A | Piotrkow |
|
|
chrX:154533591 | G/G | G | Papua |
|
|
chrX:154533592 | T/T | T | Mizushima |
|
|
chrX:154533596 | rs137852318 | C/C | C | Bajo Maumere Seattle, Lodi, Modena, Ferrara II, Athens-like |
|
chrX:154533605 | T/T | T | Chinese-1 Haikou |
|
|
chrX:154533607 | G/G | G | Wexham |
|
|
chrX:154533608 | A/A | A | La Jolla |
|
|
chrX:154533614 | G/G | G | Sugao |
|
|
chrX:154533615 | C/C | C | Bangkok |
|
|
chrX:154533619 | T/T | T | Lille |
|
|
chrX:154533620 | C/C | C | Cleveland Corum |
|
|
chrX:154533629 | C/C | C | Roubaix |
|
|
chrX:154533634 | rs137852346 | C/C | C | Aveiro |
|
chrX:154534036 | G/G | G | Wayne |
|
|
chrX:154534074 | TCAGTGC/ TCAGTGC |
TCAGTGC | Stonybrook |
|
|
chrX:154534092 | T/T | T | Durham |
|
|
chrX:154534102 | rs782757170 | G/G | G | Nanning |
|
chrX:154534110 | C/C | C | Asahikawa |
|
|
chrX:154534116 | ATGT/ATGT | ATGT | North Dallas |
|
|
chrX:154534125 | rs137852328 | C/C | C | A- 680T_376G Mexico City |
|
chrX:154534126 | G/G | G | Radlowo |
|
|
chrX:154534157 | rs137852319 | A/A | A | Harilaou |
|
chrX:154534345 | rs137852326 | C/C | C | Cincinnati Minnesota, Marion, Gastonia, LeJeune |
|
chrX:154534348 | rs782754619 | T/T | T | Sibari |
|
chrX:154534387 | rs781865768 | T/T | T | Dagua |
|
chrX:154534389 | rs137852332 | C/C | C | Nilgiri Santiago |
|
chrX:154534390 | rs137852330 | G/G | G | Coimbra Shunde Vancouver |
|
chrX:154534409 | G/G | G | Pedoplis-Ckaro |
|
|
chrX:154534414 | GGGA/GGGA | GGGA | Tsukui |
|
|
chrX:154534419 | rs5030868 | G/G | G | Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham |
|
chrX:154534438 | rs267606836 | G/G | G | Vancouver |
|
chrX:154534440 | rs5030872 | T/T | T | Malaga Santa Maria |
|
chrX:154534447 | T/T | T | Chikugo |
|
|
chrX:154534455 | T/T | T | Shinshu |
|
|
chrX:154534463 | G/G | G | Miaoli |
|
|
chrX:154534465 | rs137852343 | A/A | A | Nankang |
|
chrX:154534468 | G/G | G | Volendam |
|
|
chrX:154534485 | C/C | C | Naone |
|
|
chrX:154534486 | G/G | G | Toledo |
|
|
chrX:154534489 | rs137852331 | T/T | T | Taipei, Chinese-3 |
|
chrX:154534494 | C/C | C | Plymouth |
|
|
chrX:154534495 | rs137852314 | C/C | C | Mahidol |
|
chrX:154535176 | rs370918918 | C/C | C | Gond |
|
chrX:154535180 | rs782487723 | C/C | C | Shenzen |
|
chrX:154535187 | rs137852313 | C/C | C | Ilesha |
|
chrX:154535190 | G/G | G | Acrokorinthos |
|
|
chrX:154535211 | C/C | C | Liuzhou |
|
|
chrX:154535244 | G/G | G | Belem |
|
|
chrX:154535247 | G/G | G | Valladolid |
|
|
chrX:154535249 | rs782322505 | T/T | T | Cairo |
|
chrX:154535261 | C/C | C | Quing Yan |
|
|
chrX:154535269 | G/G | G | Crispim |
|
|
chrX:154535270 | rs78365220 | A/A | A | Crispim Salerno Pyrgos Vanua Lava |
|
chrX:154535274 | C/C | C | Crispim |
|
|
chrX:154535277 | rs1050829 | T/T | T | 202G>A_376A>G_1264C>G A A- 202A_376G A- 680T_376G A- 968C_376G Acrokorinthos Ananindeua Mt Sinai Santa Maria Sierra Leone |
|
chrX:154535278 | C/C | C | Crispim |
|
|
chrX:154535301 | A/A | A | Bao Loc |
|
|
chrX:154535316 | rs5030870 | C/C | C | Sao Borja |
|
chrX:154535330 | A/A | A | Hammersmith |
|
|
chrX:154535336 | rs267606835 | G/G | G | Vancouver |
|
chrX:154535342 | rs181277621 | C/C | C | Sierra Leone |
|
chrX:154535367 | GCTT/GCTT | GCTT | Urayasu |
|
|
chrX:154535379 | G/G | G | Guangzhou |
|
|
chrX:154535962 | rs782308266 | C/C | C | Lagosanto |
|
chrX:154535963 | rs138687036 | G/G | G | Ube Konan |
|
chrX:154535980 | A/A | A | Swansea |
|
|
chrX:154535995 | rs782090947 | T/T | T | Murcia Oristano |
|
chrX:154535996 | rs137852349 | A/A | A | Namouru |
|
chrX:154536002 | rs1050828 | C/C | C | 202G>A_376A>G_1264C>G A- 202A_376G Asahi Hechi |
|
chrX:154536008 | A/A | A | Songklanagarind |
|
|
chrX:154536019 | G/G | G | Amazonia Musashino |
|
|
chrX:154536021 | CAGA/CAGA | CAGA | Amsterdam |
|
|
chrX:154536025 | A/A | A | Costanzo |
|
|
chrX:154536032 | rs137852315 | C/C | C | Metaponto |
|
chrX:154536034 | C/C | C | Palestrina |
|
|
chrX:154536035 | G/G | G | Kamogawa |
|
|
chrX:154536045 | C/C | C | Kozukata |
|
|
chrX:154536151 | G/G | G | Kambos |
|
|
chrX:154536156 | rs76645461 | A/A | A | Aures |
|
chrX:154536168 | rs78478128 | G/G | G | Orissa |
|
chrX:154536169 | C/C | C | Rignano |
|
|
chrX:154546045 | rs137852338 | CATG/CATG | CATG | Sunderland |
|
chrX:154546046 | A/A | A | Gidra |
|
|
chrX:154546057 | T/T | T | Honiara |
|
|
chrX:154546061 | rs137852340 | T/T | T | Gaohe |
|
chrX:154546116 | C/C | C | Lages |
|
|
chrX:154546122 | C/C | C | Sinnai |
|
|
chrX:154546131 | G/G | G | No name |
|
HLA-B allele match data
Genotype Reported: | *15:02/*57:01 |
---|
IFNL3/4 allele match data
Genotype Matched: | rs12979860 reference (C)/rs12979860 reference (C) |
---|---|
Phasing Status: |
Unphased PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out. |
Calls at Positions
Position in VCF | RSID | Call in VCF | Reference | Related Alleles | Warnings |
---|---|---|---|---|---|
chr19:39248147 | rs12979860 | C/C | C | rs12979860 variant (T) |
|
MT-RNR1 allele match data
Genotype Reported: | 1555A>G |
---|
NUDT15 allele match data
Genotype Matched: | *1/*1 |
---|---|
Phasing Status: |
Unphased PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out. |
Calls at Positions
Position in VCF | RSID | Call in VCF | Reference | Related Alleles | Warnings |
---|---|---|---|---|---|
chr13:48037748 | rs769369441 | T/T | T | *10 |
|
chr13:48037749 | G/G | G | *19 |
|
|
chr13:48037782 | rs746071566 | AGGAGTC/ AGGAGTC |
AGGAGTC | *2 *6 *9 |
|
chr13:48037798 | rs186364861 | G/G | G | *5 |
|
chr13:48037825 | rs777311140 | C/C | C | *14 |
|
chr13:48037834 | rs1202487323 | C/C | C | *16 |
|
chr13:48037847 | rs766023281 | G/G | G | *7 |
|
chr13:48037849 | A/A | A | *8 |
|
|
chr13:48037885 | rs1950545307 | G/G | G | *11 |
|
chr13:48037902 | rs149436418 | C/C | C | *12 |
|
chr13:48040977 | rs1457579126 | GA/GA | GA | *18 |
|
chr13:48041103 | rs761191455 | T/T | T | *13 |
|
chr13:48041113 | rs1368252918 | G/G | G | *17 |
|
chr13:48045690 | rs768324690 | C/C | C | *20 |
|
chr13:48045719 | rs116855232 | C/C | C | *2 *3 |
|
chr13:48045720 | rs147390019 | G/G | G | *4 |
|
chr13:48045771 | rs139551410 | T/T | T | *15 |
|
RYR1 allele match data
Genotype Matched: | Reference/Reference |
---|---|
Phasing Status: |
Unphased PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out. |
Calls at Positions
Position in VCF | RSID | Call in VCF | Reference | Related Alleles | Warnings |
---|---|---|---|---|---|
chr19:38440802 | rs193922747 | T/T | T | c.103T>C |
|
chr19:38440829 | rs193922748 | C/C | C | c.130C>T |
|
chr19:38444211 | rs118192161 | C/C | C | c.487C>T |
|
chr19:38444212 | rs193922753 | G/G | G | c.488G>T |
|
chr19:38446710 | rs1801086 | G/G | G | c.742G>A c.742G>C |
|
chr19:38448673 | rs193922762 | C/C | C | c.982C>T |
|
chr19:38448712 | rs121918592 | G/G | G | c.1021G>A c.1021G>C |
|
chr19:38451842 | rs193922764 | C/C | C | c.1201C>T |
|
chr19:38451850 | rs118192116 | C/C | C | c.1209C>G |
|
chr19:38455359 | rs118192162 | A/A | A | c.1565A>C |
|
chr19:38455463 | rs111888148 | G/G | G | c.1589G>A |
|
chr19:38455471 | rs193922768 | C/C | C | c.1597C>T |
|
chr19:38455472 | rs144336148 | G/G | G | c.1598G>A |
|
chr19:38455528 | rs193922770 | C/C | C | c.1654C>T |
|
chr19:38457545 | rs118192172 | C/C | C | c.1840C>T |
|
chr19:38457546 | rs193922772 | G/G | G | c.1841G>T |
|
chr19:38494564 | rs118192175 | C/C | C | c.6487C>T |
|
chr19:38494565 | rs118192163 | G/G | G | c.6488G>A |
|
chr19:38494579 | rs118192176 | G/G | G | c.6502G>A |
|
chr19:38496283 | rs118192177 | C/C | C | c.6617C>G c.6617C>T |
|
chr19:38499223 | rs112563513 | G/G | G | c.7007G>A |
|
chr19:38499644 | rs121918596 | TGGA/TGGA | TGGA | c.7042_7044delGAG |
|
chr19:38499655 | rs193922802 | G/G | G | c.7048G>A |
|
chr19:38499670 | rs193922803 | C/C | C | c.7063C>T |
|
chr19:38499731 | rs193922807 | G/G | G | c.7124G>C |
|
chr19:38499975 | rs193922809 | G/G | G | c.7282G>A |
|
chr19:38499993 | rs121918593 | G/G | G | c.7300G>A |
|
chr19:38499997 | rs28933396 | G/G | G | c.7304G>A |
|
chr19:38500636 | rs118192124 | C/C | C | c.7354C>T |
|
chr19:38500642 | rs193922816 | C/C | C | c.7360C>T |
|
chr19:38500643 | rs118192122 | G/G | G | c.7361G>A |
|
chr19:38500654 | rs28933397 | C/C | C | c.7372C>T |
|
chr19:38500655 | rs121918594 | G/G | G | c.7373G>A |
|
chr19:38500898 | rs118192178 | C/C | C | c.7522C>G c.7522C>T |
|
chr19:38500899 | rs193922818 | G/G | G | c.7523G>A |
|
chr19:38512321 | rs193922832 | G/G | G | c.9310G>A |
|
chr19:38543832 | rs193922843 | G/G | G | c.11969G>T |
|
chr19:38580004 | rs118192167 | A/A | A | c.14387A>G |
|
chr19:38580094 | rs121918595 | C/C | C | c.14477C>T |
|
chr19:38580114 | rs193922876 | C/C | C | c.14497C>T |
|
chr19:38580370 | rs193922878 | C/C | C | c.14512C>G |
|
chr19:38580403 | rs118192168 | G/G | G | c.14545G>A |
|
chr19:38580440 | rs63749869 | G/G | G | c.14582G>A |
|
chr19:38584989 | rs118192170 | T/T | T | c.14693T>C |
|
SLCO1B1 allele match data
Genotype Matched: | *1/*1 |
---|---|
Phasing Status: |
Unphased PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out. |
In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5.
Calls at Positions
Position in VCF | RSID | Call in VCF | Reference | Related Alleles | Warnings |
---|---|---|---|---|---|
chr12:21172734 | rs139257324 | C/C | C | *33 |
|
chr12:21172776 | rs373327528 | G/G | G | *23 |
|
chr12:21172782 | rs56101265 | T/T | T | *2 *12 |
|
chr12:21174595 | rs56061388 | T/T | T | *3 *13 |
|
chr12:21176804 | rs2306283 | A/A | A | *14 *15 *20 *24 *25 *27 *28 *29 *30 *31 *32 *33 *37 *39 *42 *43 *44 *46 *47 |
|
chr12:21176868 | rs2306282 | A/A | A | *16 |
|
chr12:21176871 | G/G | G | *38 |
|
|
chr12:21176879 | rs11045819 | C/C | C | *4 *14 *25 *32 *43 |
|
chr12:21176883 | rs72559745 | A/A | A | *3 *13 |
|
chr12:21176898 | rs77271279 | G/G | G | *41 |
|
chr12:21178612 | rs141467543 | A/A | A | *42 |
|
chr12:21178615 | rs4149056 | T/T | T | *5 *15 *40 *46 *47 |
|
chr12:21178957 | rs79135870 | A/A | A | *30 |
|
chr12:21196951 | rs11045852 | A/A | A | *24 *25 *28 *32 *33 *43 *44 |
|
chr12:21196975 | rs183501729 | C/C | C | *39 |
|
chr12:21196976 | rs11045853 | G/G | G | *25 *28 *33 |
|
chr12:21200544 | rs72559747 | C/C | C | *47 |
|
chr12:21200595 | rs55901008 | T/T | T | *6 |
|
chr12:21202553 | rs1228465562 | T/T | T | *36 |
|
chr12:21202555 | rs59113707 | C/C | C | *27 |
|
chr12:21202649 | rs56387224 | A/A | A | *7 |
|
chr12:21202664 | rs142965323 | G/G | G | *26 |
|
chr12:21205921 | rs72559748 | A/A | A | *8 |
|
chr12:21205999 | rs59502379 | G/G | G | *9 *31 |
|
chr12:21206031 | rs74064213 | A/A | A | *43 *44 |
|
chr12:21222355 | rs71581941 | C/C | C | *45 *46 |
|
chr12:21239042 | rs34671512 | A/A | A | *19 *20 *40 |
|
chr12:21239077 | rs56199088 | A/A | A | *10 *12 |
|
chr12:21239113 | rs55737008 | A/A | A | *11 *13 |
|
chr12:21239145 | rs200995543 | C/C | C | *34 |
|
chr12:21239158 | rs140790673 | C/C | C | *29 |
|
TPMT allele match data
Genotype Matched: | *1/*1 |
---|---|
Phasing Status: |
Unphased PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out. |
Calls at Positions
Position in VCF | RSID | Call in VCF | Reference | Related Alleles | Warnings |
---|---|---|---|---|---|
chr6:18130687 | rs1142345 | T/T | T | *3A *3C *41 |
|
chr6:18130694 | rs150900439 | T/T | T | *20 |
|
chr6:18130725 | rs72552736 | A/A | A | *7 |
|
chr6:18130729 | rs139392616 | C/C | C | *40 |
|
chr6:18130758 | rs398122996 | A/A | A | *37 |
|
chr6:18130762 | rs56161402 | C/C | C | *8 |
|
chr6:18130772 | rs377085266 | A/A | A | *25 |
|
chr6:18130781 | rs1800584 | C/C | C | *4 |
|
chr6:18132136 | rs72556347 | A/A | A | *26 |
|
chr6:18132147 | rs79901429 | A/A | A | *31 |
|
chr6:18132163 | C/C | C | *36 |
|
|
chr6:18133845 | rs75543815 | T/T | T | *6 |
|
chr6:18133847 | rs6921269 | C/C | C | *24 |
|
chr6:18133870 | rs772832951 | A/A | A | *38 |
|
chr6:18133884 | rs74423290 | G/G | G | *23 |
|
chr6:18133887 | rs201695576 | T/T | T | *44 |
|
chr6:18133890 | rs9333570 | C/C | C | *15 |
|
chr6:18138969 | rs144041067 | C/C | C | *16 *22 |
|
chr6:18138970 | rs112339338 | G/G | G | *33 |
|
chr6:18138997 | rs1800460 | C/C | C | *3A *3B |
|
chr6:18139027 | rs72552737 | C/C | C | *10 |
|
chr6:18139689 | rs72552738 | C/C | C | *11 |
|
chr6:18139710 | rs200220210 | G/G | G | *12 |
|
chr6:18143597 | T/T | T | *19 |
|
|
chr6:18143606 | rs151149760 | T/T | T | *9 |
|
chr6:18143613 | C/C | C | *28 |
|
|
chr6:18143622 | rs115106679 | C/C | C | *32 |
|
chr6:18143643 | A/A | A | *27 |
|
|
chr6:18143700 | rs753545734 | C/C | C | *43 |
|
chr6:18143718 | rs111901354 | G/G | G | *34 |
|
chr6:18143724 | rs1800462 | C/C | C | *2 |
|
chr6:18143728 | rs1256618794 | C/C | C | *43 |
|
chr6:18147838 | rs281874771 | G/G | G | *39 |
|
chr6:18147845 | rs777686348 | C/C | C | *18 |
|
chr6:18147851 | rs200591577 | G/G | G | *21 |
|
chr6:18147856 | A/A | A | *35 |
|
|
chr6:18147910 | rs72552740 | A/A | A | *5 |
|
chr6:18149004 | G/G | G | *17 |
|
|
chr6:18149022 | rs750424422 | C/C | C | *30 |
|
chr6:18149032 | rs759836180 | C/C | C | *42 |
|
chr6:18149045 | rs72552742 | T/T | T | *13 |
|
chr6:18149126 | rs267607275 | A/A | A | *29 |
|
chr6:18149127 | rs9333569 | T/T | T | *14 |
|
UGT1A1 allele match data
Genotype Matched: | *1/*1 |
---|---|
Phasing Status: |
Unphased PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out. |
Calls at Positions
Position in VCF | RSID | Call in VCF | Reference | Related Alleles | Warnings |
---|---|---|---|---|---|
chr2:233759924 | rs887829 | C/C | C | *80 *80+*28 *80+*37 |
|
chr2:233760233 | rs3064744 | CAT/CAT | CAT | *28 *36 *37 *80+*28 *80+*37 |
|
chr2:233760498 | rs4148323 | G/G | G | *6 |
|
chr2:233760973 | rs35350960 | C/C | C | *27 |
|
VKORC1 allele match data
Genotype Matched: | rs9923231 reference (C)/rs9923231 reference (C) |
---|---|
Phasing Status: |
Unphased PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out. |
Calls at Positions
Position in VCF | RSID | Call in VCF | Reference | Related Alleles | Warnings |
---|---|---|---|---|---|
chr16:31096368 | rs9923231 | C/C | C | rs9923231 variant (T) |
|
Disclaimers and Other Information
Liability: PharmCAT assumes no responsibility for any injury to person or damage to persons or property arising out of, or related to any use of PharmCAT, or for any errors or omissions. The user recognizes that PharmCAT is a research tool and that they are using PharmCAT at their own risk.
A. Allele and Genotype Determination
- PharmCAT uses gene allele definitions included in the CPIC database, with exceptions as noted in Gene Definition Exceptions document. For allele definitions and the positions used in PharmCAT, see the gene definition tables.
- Genes with DPWG recommendations that are not incldued in CPIC are discussed in Section C.
- PharmCAT results are dependent on the supplied vcf calls for the queried positions (for technical information about PharmCAT input formatting and requirements, please go to pharmcat.org). PharmCAT does not assume any reference calls for positions missing from the submitted vcf file; all missing queried positions are not considered in the allele determination process. However, if an allele that includes a missing position is defined by an additional position(s) for which calls are provided, the allele will be considered in the matching process based on the available information. This might lead to the output of multiple possible genotypes. See the gene definition tables for more information about what positions are queried in the vcf file. Missing positions might alter the assigned genotype, subsequent phenotype prediction and CPIC recommendation. If the supplied vcf file is missing positions, those positions will be noted in Section III: Allele Matching Details for each gene of this report. For the most reliable allele determination, reference calls as well as variant calls in the vcf file for every queried position must be provided by the user.
- For cytochrome P450 genes, TPMT, NUDT15, UGT1A1, and SLCO1B1, the *1 allele is defined by the absence of variation specified in the gene definition tables. This allele cannot be identified by variants; rather, *1 is assigned by default when no variation for the queried positions is reported in the submitted vcf file. The same is true for all other genes with multiple variant positions in the definition table (CACNA1S, CFTR, DPYD, RYR1): the reference sequence is the default result when variants are not reported in the vcf file. It is always possible un-interrogated variation can occur which could potentially affect allele function, but because it is undetected, the assignment would be defaulted to a *1 (or reference) allele and normal function.
- For all genes, variation reported in the vcf file but NOT included in the gene definition table will not be considered during allele assignment. There is a possibility that any such variation results in a reduced or no activity allele which could lead to inaccurate phenotype and CPIC recommendation, similar to the situation in point 3, above.
- Nucleotide base calls are displayed on the positive chromosomal strand regardless of the gene strand; further information is provided under Gene-specific warnings in Section III: Allele Matching Details.
- PharmCAT matches variants to genotypes assuming unphased data (unless phased data is provided in the vcf file and
noted as such, see
pharmcat.org for details). The assumption is that defined alleles exist in trans
configuration, i.e. on opposite chromosomes, with exceptions noted in Section III: Allele Matching Details under
"Gene-specific warnings." However, in cases where an allele is defined by a combination of two or more variants,
where each variant alone also defines an allele, the match is based on the longer allele. For example, TPMT*3B is
defined by one SNP, *3C is defined by another SNP, and *3A is defined by the combination of those two SNPs. In the
case of unphased data that is heterozygous for both SNPs, the *1/*3A genotype is returned though the possibility of
*3B/*3C cannot be ruled out.
Below cases are summarized for which two calls with different scores are possible when provided unphased data and
heterozygous calls for the variants that define the two alleles. The genotype with the higher score (longer allele)
will be used to determine allele functionality, phenotype, and recommendation but the genotype with the lower score
cannot be ruled out.
Table 1: Cases for which there is an overlap in the allele definitions.
Gene Genotype (Higher Score) Metabolizer phenotype Genotype (Lower Score) Metabolizer phenotype UGT1A1 *1/*80+*28 Intermediate *28/*80 Indeterminate UGT1A1 *1/*80+*37 Intermediate *37/*80 Indeterminate TPMT *1/*3A Intermediate *3B/*3C Poor NUDT15 *1/*2 Intermediate *3/*6 Possible Intermediate CYP2C9 *1/*71 N/A *10/*22 Indeterminate CYP2B6 *1/*36 Intermediate *6/*22 Intermediate CYP2B6 *1/*34 Intermediate *33/*36 Indeterminate CYP2B6 *1/*6 Intermediate *4/*9 Intermediate CYP2B6 *1/*7 Intermediate *5/*6 Intermediate CYP2B6 *1/*13 Intermediate *6/*8 Intermediate SLCO1B1 *1/*46 Decreased function *15/*45 Possible Decreased Function SLCO1B1 *1/*20 Normal Function *19/*37 Indeterminate SLCO1B1 *1/*12 Indeterminate *2/*10 Indeterminate SLCO1B1 *1/*13 Indeterminate *3/*11 Indeterminate SLCO1B1 *1/*14 Normal Function *4/*37 Indeterminate SLCO1B1 *1/*15 Decreased function *5/*37 Decreased function SLCO1B1 *1/*25 Indeterminate *4/*28 Indeterminate SLCO1B1 *1/*31 Decreased function *9/*37 Decreased Function SLCO1B1 *1/*32 Indeterminate *4/*24 Indeterminate SLCO1B1 *1/*40 Indeterminate *5/*19 Possible Decreased Function SLCO1B1 *1/*43 Indeterminate *4/*44 Indeterminate Table 2: Cases for which there is an overlap in the allele definitions because the definition of the non-*1 allele in the genotype with the higher score allows for reference or variant at the position that defines the first allele listed in the genotype with the lower score. Both genotypes cannot be ruled out with unphased data if the position that overlaps between the respectives alleles is heterozygous (0/1) in addition to heterozyous calls for the other variants that define the non-*1 allele in the genotype with the higher score. Gene Genotype (Higher Score) Metabolizer phenotype Genotype (Lower Score) Metabolizer phenotype ------- ----------------------- --------------------- --------------------- --------------------- CYP2C19 *1/*4 Intermediate *17/*4 Intermediate CYP2C19 *1/*2 Intermediate *11/*2 Intermediate CYP2C19 *1/*35 Intermediate *15/*35 Intermediate CYP2B6 *1/*18 Intermediate *4/*18 Indeterminate B. CPIC Allele Function, Phenotype and Recommendation
- All content is sourced from the CPIC database.
C. DPWG Allele Function, Phenotype and Recommendation
- PharmGKB annotates PGx-based drug dosing guidelines published by the Royal Dutch Association for the Advancement of Pharmacy - Pharmacogenetics Working Group (DPWG). PharmGKB curates allele function assignments and phenotype mappings from the DPWG to provide genotype specific DPWG guideline recommendations. Where possible, PharmGKB maps DPWG terms to CPIC terms, as outlined on PharmGKB.
- CYP3A4 is currently not part of a CPIC guideline. Since the DPWG CYP3A4 documentation includes limit variant notations for the included alleles (only *16, *20, and *22 are specified) PharmCAT relies on PharmVar CYP3A4 allele definitions. The CYP3A4*20 and *22 definitions are the same in both sources, while the *16 allele definition includes besides rs12721627 an additional SNP rs2242480 in PharmVar.
- The CPIC UGT1A1 allele definition file includes *6, *27, *28, *36, *37, and *80. Since the DPWG UGT1A1 document does not include allele definitions besides for the UGT1A1 TA box promoter polymorphism, PharmCAT only includes the UGT1A1 positions from the CPIC UGT1A1 allele definition file. Other UGT1A1 alleles can be supplied as outside calls but not be determined from the VCF file by the Named Allele Matcher.
- IMPORTANT: As of March 2022, gene information documents from the DPWG are no longer publicly available from the KNMP website. PharmGKB is currently providing PDF versions of these documents to users. These files were downloaded in February 2022. As such, it cannot be guaranteed that these documents match the mappings DPWG may use internally as there have been no publicly accessible updates since February 2022.
D. PharmCAT Exceptions to the CPIC Guideline Gene List
- PharmCAT does not determine CYP2D6, G6PD, MT-RNR1, HLA-A, or HLA-B genotypes from the vcf file, but genotypes for CYP2D6, G6PD, MT-RNR1, HLA-A, or HLA-B can be provided to PharmCAT from an outside source and the corresponding phenotype and prescribing recommendations will be included in the generated report. For the required format of the outside calls refer to PharmCAT documentation.
- CPIC has assigned function to the following CYP2D6 CNV alleles: *1x2, *1x≥3, *2x2, *2x≥3, *3x2, *4x2, *4x≥3, *6x2, *9x2, *10x2, *17x2, *29x2, *35x2, *36x2, *41x2, *41x3, *43x2, *45x2. These alleles are part of the CPIC diplotype to phenotype translation and can be connected to recommendations. Other CNV notations from outside calls need to be mapped accordingly.
E. CPIC Guideline Disclaimers and Caveats
- A version of the following quoted disclaimer is part of each CPIC guideline and applies to the CPIC recommendations
as used in PharmCAT. For the full description of potential benefits and risks, additional considerations (general and
specific to gene-drug pairs), limitations, information about respective gene nomenclature systems, potential
drug-drug interactions and clinical factors to consider, please see individual CPIC guidelines
(cpicpgx.org).
- "CPIC guidelines reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time a guideline was submitted for publication. Guidelines are limited in scope and are not applicable to interventions or diseases not specifically identified. Guidelines do not account for all individual variations among patients and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guidelines is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. CPIC assumes no responsibility for any injury to persons or damage to persons or property arising out of or related to any use of CPIC's guidelines, or for any errors or omissions." (PMID: 27997040)
- "Caveats: appropriate use and/or potential misuse of genetic tests. The application of genotype-based dosing is most appropriate when initiating therapy with a tricyclic. Obtaining a pharmacogenetic test after months of drug therapy may be less helpful in some instances, as the drug dose may have already been adjusted based on plasma concentrations, response, or side effects. Similar to all diagnostic tests, genetic tests are one of several pieces of clinical information that should be considered before initiating drug therapy." (PMID: 27997040)
- CPIC guidelines reflect the alleles/genotypes known and considered by the guideline authors for inclusion by the time of publication, however they may be updated online at cpicpgx.org and in the CPIC database in between publications. Additional alleles and/or more extensive allele definitions might exist by the representative gene nomenclatures for various genes.
- CPIC is a registered service mark of the U.S. Department of Health & Human Services (HHS).
F. PharmGKB Disclaimers and Caveats
- PharmGKB is a registered service mark of the U.S. Department of Health & Human Services (HHS).