Sections

  1. Genotype Summary
  2. Prescribing Recommendations
  3. Allele Matching Details
  4. Disclaimers
Disclaimer: PharmCAT is only able to generate recommendations based on the information provided to the software. The gene and variant information for all reported sections are interpreted directly from user-supplied data. The user recognizes they are using PharmCAT at their own risk. For a full list of disclaimers and limitations see Section IV.

Section I: Genotype Summary

Genotypes called: 22 / 23

Drugs Gene Genotypes
Genotype Allele Functionality Phenotype
ABCG2
rs2231142 reference (G)/rs2231142 reference (G) Two Normal function alleles Normal Function
CACNA1S
Reference/Reference Two Normal function alleles Uncertain Susceptibility
CFTR
Reference/Reference Two ivacaftor non-responsive alleles ivacaftor non-responsive in CF patients
CYP2B6
*1/*1 Two Normal function alleles Normal Metabolizer
CYP2C19
*38/*38 Two Normal function alleles Normal Metabolizer
CYP2C9
*1/*1 Two 1.0 (Normal function) alleles Normal Metabolizer
CYP2D6
*1/*3 One 0.0 (No function) allele and one 1.0 (Normal function) allele Intermediate Metabolizer
CYP3A4
*1/*1 Two Normal function alleles Normal Metabolizer
CYP3A5
*1/*1 Two Normal function alleles Normal Metabolizer
CYP4F2
*1/*1 N/A N/A
DPYD
Reference/Reference
Reference 1.0 (Normal function) See drug section
F5
rs6025 C/rs6025 C Two Factor V Leiden negative alleles Factor V Leiden absent
G6PD
B (reference)/B (reference) Two IV/Normal alleles Normal
HLA-B
*15:02/*57:01 N/A *15:02 positive; *57:01 positive; *58:01 negative
IFNL3/4
rs12979860 reference (C)/rs12979860 reference (C) Two Favorable response allele alleles n/a
MT-RNR1
1555A>G Increased risk of aminoglycoside-induced hearing loss increased risk of aminoglycoside-induced hearing loss
NUDT15
*1/*1 Two Normal function alleles Normal Metabolizer
RYR1
Reference/Reference Two Normal function alleles Uncertain Susceptibility
SLCO1B1
*1/*1 Two Normal function alleles Normal Function
TPMT
*1/*1 Two Normal function alleles Normal Metabolizer
UGT1A1
*1/*1 Two Normal function alleles Normal Metabolizer
VKORC1
rs9923231 reference (C)/rs9923231 reference (C) N/A N/A
Check Section III for more details about this call.
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.
CPIC terms for allele function and phenotype are used for all CPIC genes. For non-CPIC genes, DPWG terms are used.
For a full list of disclaimers and limitations see Section IV.

Section II: Prescribing Recommendations

abacavir

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Alternate Drug
Genotype
HLA-B: Significantly increased risk of abacavir hypersensitivity Abacavir is not recommended Strong

PharmGKB-DPWG 1

Population:
Unspecified

Alternate Drug
Genotype
HLA-B*57:01-positive patients have a strongly increased risk of a hypersensitivity reaction to abacavir. 48% of the HLA-B*57:01-positive patients develop a severe and potentially life-threatening hypersensitivity reaction to abacavir Abacavir is contra-indicated for HLA-B*57:01-positive patients.
  1. Avoid abacavir.
N/A

Citations:

acenocoumarol

Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

No Action
Genotype
  • VKORC1:
    rs9923231 reference (C)/
    rs9923231 reference (C)
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). No recommendation

Citations:

allopurinol

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
HLA-B: Low or reduced risk of allopurinol-induced SCAR Use allopurinol per standard dosing guidelines Strong

PharmGKB-DPWG 1, 2

Population:
Unspecified

No Action
Genotype
  • ABCG2:
    rs2231142 reference (G)/
    rs2231142 reference (G)
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) No recommendation

amikacin

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Alternate Drug
Genotype
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.

Other Considerations

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

amitriptyline

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Dosing Info
Genotype
  • CYP2C19: Normal metabolism of tertiary amines
  • 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. Utilize therapeutic drug monitoring to guide dose adjustments.

Other Considerations

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:
Unspecified

Dosing Info
Genotype
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

aripiprazole

Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

No Action
Genotype
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. NO action is needed for this gene-drug interaction. N/A

Citations:

atazanavir

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Other Guidance
Genotype
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).

Other Considerations

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:

atomoxetine

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
adults

Dosing Info
Genotype
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.

Other Considerations

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:
pediatrics

Dosing Info
Genotype
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.

Other Considerations

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:
Unspecified

Dosing Info
Genotype
The dose requirement can be reduced, because the genetic variation results in a higher atomoxetine plasma concentration. In the event of side effects occurring and/or a response later than 9 weeks: reduce the dose and check whether the effect is conserved The plasma concentration of atomoxetine is a factor of 2-3 times higher for IM than for NM at the same dose. N/A

atorvastatin

The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

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 Classification

CPIC 1

Population:
general

No Action
Genotype
SLCO1B1: Typical myopathy risk and statin exposure Prescribe desired starting dose and adjust doses based on disease-specific guidelines.

Other Considerations

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

Population:
Unspecified

No Action
Genotype
The guideline does not provide a description of the impact of the _SLCO1B1_ 521 TT genotype on atorvastatin. The guideline does not provide a recommendation for atorvastatin in patients with the SLCO1B1 521 TT genotype No recommendation

azathioprine

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
  • NUDT15: Normal risk of thiopurine-related leukopenia, neutropenia, myelosuppression
  • TPMT: Lower concentrations of TGN metabolites, higher MeTIMP, this is the ‘normal’ pattern. Normal risk of thiopurine-related leukopenia, neutropenia, myelosuppression.
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).

Other Considerations

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

PharmGKB-DPWG 1, 2

Population:
Unspecified

No Action
Genotype
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 No recommendation

PharmGKB-DPWG 1, 2

Population:
Unspecified

No Action
Genotype
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. No recommendation

brexpiprazole

Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

No Action
Genotype
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. NO action is required for this gene-drug interaction. N/A

capecitabine

The two lowest activity values (variant activity scores, see CPIC guideline PMID:29152729) are used for unphased data and the lowest activity value per allele is used for phased data to determine the gene activity score and phenotype to retrieve prescribing recommendations.
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
  • DPYD:Reference/
    Reference
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. Strong

PharmGKB-DPWG 1

Population:
Unspecified

No Action
Genotype
  • DPYD:Reference/
    Reference
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. No recommendation

carbamazepine

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
CBZ naive

Alternate Drug
Genotype
  • HLA-A:Not called - no variant data provided;
    HLA-B:*15:02/*57:01
  • HLA-A: n/a
  • HLA-B: Greater risk of carbamazepine-induced SJS/TEN
If patient is carbamazepine-naïve, do not use carbamazepine.

Other Considerations

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. Previous tolerance of carbamazepine is not indicative of tolerance to other aromatic anticonvulsants. Aromatic anticonvulsants include carbamazepine, oxcarbazepine, eslicarbazepine, lamotrigine, phenytoin, fosphenytoin, and phenobarbital. In addition to HLA-B*15:02, risk for carbamazepine-induced SJS/TEN has been reported in association with the most common B75 serotype alleles in Southeast Asia, HLA-B*15:08, HLA-B*15:11, and HLA-B*15:21. Although not described, the possibility of carbamazepine-induced SJS/TEN in association with less frequently carried B75 serotype alleles, such as HLA-B*15:30 and HLA-B*15:31, should also be considered.
Strong

CPIC 1

Population:
CBZ use >3mos

Other Guidance
Genotype
  • HLA-A:Not called - no variant data provided;
    HLA-B:*15:02/*57:01
  • HLA-A: n/a
  • HLA-B: Greater risk of carbamazepine-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 carbamazepine consistently for longer than three months without incidence of cutaneous adverse reactions, cautiously consider use of carbamazepine in the future.

Other Considerations

Previous tolerance of carbamazepine is not indicative of tolerance to other aromatic anticonvulsants. Aromatic anticonvulsants include carbamazepine, oxcarbazepine, eslicarbazepine, lamotrigine, phenytoin, fosphenytoin, and phenobarbital. In addition to HLA-B*15:02, risk for carbamazepine-induced SJS/TEN has been reported in association with the most common B75 serotype alleles in Southeast Asia, HLA-B*15:08, HLA-B*15:11, and HLA-B*15:21. Although not described, the possibility of carbamazepine-induced SJS/TEN in association with less frequently carried B75 serotype alleles, such as HLA-B*15:30 and HLA-B*15:31, should also be considered.
Optional

CPIC 1

Population:
CBZ-no alternatives

Alternate Drug
Genotype
  • HLA-A:Not called - no variant data provided;
    HLA-B:*15:02/*57:01
  • HLA-A: n/a
  • HLA-B: Greater risk of carbamazepine-induced SJS/TEN
If patient is carbamazepine-naïve, do not use carbamazepine.

Other Considerations

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. Previous tolerance of carbamazepine is not indicative of tolerance to other aromatic anticonvulsants. Aromatic anticonvulsants include carbamazepine, oxcarbazepine, eslicarbazepine, lamotrigine, phenytoin, fosphenytoin, and phenobarbital. In addition to HLA-B*15:02, risk for carbamazepine-induced SJS/TEN has been reported in association with the most common B75 serotype alleles in Southeast Asia, HLA-B*15:08, HLA-B*15:11, and HLA-B*15:21. Although not described, the possibility of carbamazepine-induced SJS/TEN in association with less frequently carried B75 serotype alleles, such as HLA-B*15:30 and HLA-B*15:31, should also be considered.
Strong

PharmGKB-DPWG 1, 2

Population:
Unspecified

Alternate Drug
Genotype
Patients with this genetic variation have a severely increased risk of experiencing the life-threatening cutaneous adverse event Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN). The risk of carbamazepine-induced SJS/TEN in these patients is 1.8-3.4%.
  • Choose an alternative if possible. Phenytoin, lamotrigine and oxcarbazepine also pose an increased risk of SJS/TEN in these patients, but the final risk is 10-fold lower for these medicines than for carbamazepine. Furthermore, in the case of oxcarbazepine, the most severe forms (SJS/TEN overlap and TEN) have not been observed.
N/A

celecoxib

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
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. Strong

citalopram

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
CYP2C19: Normal metabolism Initiate therapy with recommended starting dose Strong

PharmGKB-DPWG 1

Genotype
CYP2C19:*38/*38
 
PharmGKB-DPWG provides no genotype-based recommendations for the following genotype, after evaluating the evidence.

clomipramine

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Dosing Info
Genotype
  • CYP2C19: Normal metabolism of tertiary amines
  • 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. Utilize therapeutic drug monitoring to guide dose adjustments.

Other Considerations

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, 2

Population:
Unspecified

Dosing Info
Genotype
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

clopidogrel

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
CVI ACS PCI

No Action
Genotype
CYP2C19: Normal clopidogrel active metabolite formation; normal on-treatment platelet reactivity If considering clopidogrel, use at standard dose (75 mg/day)

Other Considerations

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:
CVI non-ACS non-PCI

No Action
Genotype
CYP2C19: Normal clopidogrel active metabolite formation; normal on-treatment platelet reactivity If considering clopidogrel, use at standard dose (75 mg/day)

Other Considerations

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:
NVI

No Action
Genotype
CYP2C19: Normal clopidogrel active metabolite formation; normal on-treatment platelet reactivity If considering clopidogrel, use at standard dose (75 mg/day)

Other Considerations

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

Genotype
CYP2C19:*38/*38
 
PharmGKB-DPWG provides no genotype-based recommendations for the following genotype, after evaluating the evidence.

codeine

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Other Guidance
Genotype
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. Moderate

PharmGKB-DPWG 1

Population:
Unspecified

Alternate Drug
Dosing Info
Other Guidance
Genotype
The genetic variation reduces the conversion of codeine to morphine. This can result in reduced analgesia. For PAIN: It is not possible to offer adequately substantiated advice for dose adjustment based on the limited available literature for this phenotype.
  1. Be alert to a reduced effectiveness.
  2. In the case of inadequate effectiveness: 1. Try a dose increase. 2. If this does not work: choose an alternative. Do not select tramadol, as this is also metabolised by CYP2D6. Morphine is not metabolised by CYP2D6. Oxycodone is metabolised by CYP2D6 to a limited extent, but this does not result in differences in analgesia in patients.
  3. If no alternative is selected: advise the patient to report inadequate analgesia.
For COUGH: No action required.
N/A

dapsone

PharmCAT reports based on VCF file input and some VCF files do not specify hemizygous (one X chromosome) and instead represent samples as homozygous. See PharmCAT FAQs (https://pharmcat.org/faqs/).
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
  • G6PD:B (reference)/
    B (reference)
G6PD: Low risk of acute hemolytic anemia No reason to avoid based on G6PD status Strong

desflurane

If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Other Guidance
Genotype
These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong

desipramine

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Dosing Info
Genotype
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.

Other Considerations

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

dexlansoprazole

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Dosing Info
Genotype
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. Optional

doxepin

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Dosing Info
Genotype
  • CYP2C19: Normal metabolism of tertiary amines
  • 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. Utilize therapeutic drug monitoring to guide dose adjustments.

Other Considerations

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:
Unspecified

Dosing Info
Genotype
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

efavirenz

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
child >40kg_adult

No Action
Genotype
CYP2B6: Normal efavirenz metabolism Initiate efavirenz with standard dosing (600 mg/day)

Other Considerations

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:
Unspecified

No Action
Genotype
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. No recommendation

eliglustat

Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

Alternate Drug
Dosing Info
Genotype
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. Co-medication with BOTH a MODERATE to STRONG CYP2D6 INHIBITOR AND a MODERATE to STRONG CYP3A INHIBITOR:
  • Eliglustat is contra-indicated. Choose an alternative if possible.
Strong CYP2D6 inhibitor: for example paroxetine, fluoxetine, quinidine, bupropione. Moderate CYP2D6 inhibitor: for example duloxetine, terbinafine, moclobemide, mirabegron, cinacalcet, dronedarone. Strong CYP3A inhibitor: for example ketoconazole, clarithromycin, itraconazole, cobicistat, indinavir, lopinavir, ritonavir, saquinavir, telaprevir, tipranavir, posaconazole, voriconazole, telithromycin, conivaptan, boceprevir. Moderate CYP3A inhibitor: for example erythromycin, ciprofloxacin, fluconazole, diltiazem, verapamil, aprepitant, atazanavir, darunavir, fosamprenavir, imatinib, cimetidine. Co-medication with a STRONG CYP2D6 INHIBITOR (e.g. paroxetine, fluoxetine, quinidine, bupropione):
  • Use a dose of 84mg eliglustat 1x daily.
Co-medication with a MODERATE CYP2D6 INHIBITOR (for example duloxetine, terbinafine, moclobemide, mirabegron, cinacalcet, dronedarone):
  • Consider a dose of 84mg eliglustat 1x daily. Be alert to side effects.
Co-medication with a STRONG CYP3A INHIBITOR (for example ketoconazole, clarithromycin, itraconazole, cobicistat, indinavir, lopinavir, ritonavir, saquinavir, telaprevir, tipranavir, posaconazole, voriconazole, telithromycin, conivaptan, boceprevir):
  • Choose an alternative if possible.
  • If an alternative is not an option: consider a dose of 84 mg eliglustat 1x daily and be alert to side effects.
Co-medication with a MODERATE CYP3A INHIBITOR (for example erythromycin, ciprofloxacin, fluconazole, diltiazem, verapamil, aprepitant, atazanavir, darunavir, fosamprenavir, imatinib, cimetidine):
  • Choose an alternative.
  • If an alternative is not an option: consider a dose of 84mg eliglustat 1x daily and be alert to side effects.
Co-medication with a STRONG CYP3A INDUCER (for example rifampicin, carbamazepine, phenobarbital, phenytoin, rifabutine, hypericum): Eliglustat is not recommended. The plasma concentration may decrease so sharply that a therapeutic effect cannot be achieved.
  • Choose an alternative if possible.
NO co-medication with a moderate or strong CYP2D6 or CYP3A inhibitor or strong CYP3A inducer:
  • Use the standard dose of 84mg 2x daily.
N/A

enflurane

If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Other Guidance
Genotype
These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong

escitalopram

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
CYP2C19: Normal metabolism Initiate therapy with recommended starting dose Strong

PharmGKB-DPWG 1

Genotype
CYP2C19:*38/*38
 
PharmGKB-DPWG provides no genotype-based recommendations for the following genotype, after evaluating the evidence.

flecainide

Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

Dosing Info
Genotype
The genetic variation reduces conversion of flecainide to inactive metabolites. This may increase the risk of side effects. Indications other than diagnosis of Brugada syndrome:
  • Reduce the dose to 75% of the standard dose and record an ECG and monitor the plasma concentration.
Provocation test for diagnosis of Brugada syndrome:
  • No action required. At a dose of 2.0 mg/kg body weight to a maximum of 150 mg, the response is better for patients with alleles that result in reduced activity. All 5 patients with these alleles and 20% of the patients with two fully active alleles exhibited a response within 30 minutes.
N/A

Citations:

flucloxacillin

Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

Alternate Drug
Other Guidance
Genotype
HLA-B*57:01-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
  1. Regularly monitor the patient’s liver function
  2. Choose an alternative if liver enzymes and/or bilirubin levels are elevated
N/A

flucytosine

The two lowest activity values (variant activity scores, see CPIC guideline PMID:29152729) are used for unphased data and the lowest activity value per allele is used for phased data to determine the gene activity score and phenotype to retrieve prescribing recommendations.
Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

No Action
Genotype
  • DPYD:Reference/
    Reference
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. No recommendation

fluorouracil

The two lowest activity values (variant activity scores, see CPIC guideline PMID:29152729) are used for unphased data and the lowest activity value per allele is used for phased data to determine the gene activity score and phenotype to retrieve prescribing recommendations.
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
  • DPYD:Reference/
    Reference
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. Strong

PharmGKB-DPWG 1

Population:
Unspecified

No Action
Genotype
  • DPYD:Reference/
    Reference
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. No recommendation

flurbiprofen

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
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. Strong

fluvastatin

The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

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 Classification

CPIC 1

Population:
general

No Action
Genotype
  • CYP2C9: Normal exposure.
  • SLCO1B1: Typical myopathy risk and statin exposure.
Prescribe desired starting dose and adjust doses of fluvastatin based on disease-specific guidelines.

Other Considerations

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

fluvoxamine

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
CYP2D6: Reduced metabolism of fluvoxamine to less active compounds when compared to CYP2D6 normal metabolizers. Higher plasma concentrations may increase the probability of side effects. Initiate therapy with recommended starting dose. Moderate

fosphenytoin

The displayed recommendation for CYP2C9 and phenytoin is ONLY valid for non-carriers of the HLA-B*15:02 high-risk allele. PharmCAT Named Allele Matcher does not determine HLA status. CPIC guidance: Fos-/Phenytoin is contraindicated in individuals with the HLA-B*15:02 variant allele ("HLA-B*15:02-positive") due to significantly increased risk of fos-/phenytoin-induced cutaneous adverse reactions of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). In HLA-B*15:02 carriers, carbamazepine should not be used as an alternative. Alternative medications such as oxcarbazepine, eslicarbazepine acetate, and lamotrigine have some evidence linking SJS/TEN with the HLA-B*15:02 allele, and thus caution should be used in choosing alternatives to phenytoin.
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
PHT naive

Alternate Drug
Genotype
  • CYP2C9: Normal phenytoin metabolism
  • HLA-B: Increased risk of phenytoin-induced SJS/TEN
If patient is phenytoin-naive, do not use phenytoin/fosphenytoin. Avoid carbamazepine and oxcarbazepine.

Other Considerations

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

CPIC 1

Population:
PHT use >3mos

Other Guidance
Genotype
  • CYP2C9: Normal phenytoin metabolism
  • HLA-B: Increased risk of phenytoin-induced SJS/TEN
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.

Other Considerations

Previous tolerance of phenytoin is not indicative of tolerance to other aromatic anticonvulsants.
Optional

gentamicin

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Alternate Drug
Genotype
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.

Other Considerations

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

haloperidol

Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

No Action
Genotype
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

Citations:

halothane

If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Other Guidance
Genotype
These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong

hormonal contraceptives for systemic use

Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

No Action
Genotype
  • F5:rs6025 C/
    rs6025 C
The guideline does not provide a description of the impact of the absence of Factor V Leiden on estrogen-containing contraceptives. The guideline does not provide a recommendation for estrogen-containing contraceptives in patients who do not have the Factor V Leiden variant. No recommendation

Citations:

hydrocodone

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Other Guidance
Genotype
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. Optional

ibuprofen

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
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. Strong

imipramine

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Dosing Info
Genotype
  • CYP2C19: Normal metabolism of tertiary amines
  • 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. Utilize therapeutic drug monitoring to guide dose adjustments.

Other Considerations

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, 2

Population:
Unspecified

Dosing Info
Genotype
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

irinotecan

Alleles determined based on the CPIC UGT1A1 allele definition file due to limited allele definition information in the DPWG UGT1A1 document
Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

No Action
Genotype
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 No recommendation

Citations:

isoflurane

If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Other Guidance
Genotype
These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong

ivacaftor

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Alternate Drug
Genotype
  • CFTR:Reference/
    Reference
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 Moderate

kanamycin

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Alternate Drug
Genotype
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.

Other Considerations

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

lamotrigine

Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

Alternate Drug
Other Guidance
Genotype
The life-threatening cutaneous side effect Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN) occurs more often in patients with this genetic variation. Based on the estimated risk for all patients and the increase by a factor 3.6 for patients with this genetic variation, the risk of lamotrigine-induced SJS/TEN in patients with HLA-B*1502 is estimated at 0.4%.
  • Carefully weigh the risk of SJS/TEN against the benefits.
  • Avoid lamotrigine if an alternative is available.
    • Carbamazepine carries a much higher risk of SJS/TEN in these patients and is therefore not an alternative.
    • A similar risk has been reported for phenytoin as for lamotrigine.
    • The same applies to oxcarbazepine, but the most severe forms (SJS/TEN overlap and TEN) have not been observed with oxcarbazepine.
  • If it is not possible to avoid these products, advise the patient to report any rash immediately.
N/A

lansoprazole

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Dosing Info
Genotype
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. Moderate

PharmGKB-DPWG 1

Genotype
CYP2C19:*38/*38
 
PharmGKB-DPWG provides no genotype-based recommendations for the following genotype, after evaluating the evidence.

Citations:

lornoxicam

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
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. Strong

lovastatin

The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

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 Classification

CPIC 1

Population:
general

No Action
Genotype
SLCO1B1: Typical myopathy risk and statin exposure Prescribe desired starting dose and adjust doses based on disease-specific guidelines.

Other Considerations

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

meloxicam

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
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. Strong

mercaptopurine

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
  • NUDT15: Normal risk of thiopurine-related leukopenia, neutropenia, myelosuppression
  • TPMT: Lower concentrations of TGN metabolites, higher MeTIMP, this is the ‘normal’ pattern. Normal risk of thiopurine-related leukopenia, neutropenia, myelosuppression.
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).

Other Considerations

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

PharmGKB-DPWG 1, 2

Population:
Unspecified

No Action
Genotype
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 No recommendation

PharmGKB-DPWG 1, 2

Population:
Unspecified

No Action
Genotype
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. No recommendation

methoxyflurane

If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Other Guidance
Genotype
These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong

methylene blue

PharmCAT reports based on VCF file input and some VCF files do not specify hemizygous (one X chromosome) and instead represent samples as homozygous. See PharmCAT FAQs (https://pharmcat.org/faqs/).
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
  • G6PD:B (reference)/
    B (reference)
G6PD: Low risk of acute hemolytic anemia No reason to avoid based on G6PD status Strong

metoprolol

Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

Dosing Info
Genotype
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:
  • Use smaller steps in dose titration and/or prescribe no more than 50% of the standard dose.
OTHER CASES:
  • No action required.
N/A

Citations:

nitrofurantoin

PharmCAT reports based on VCF file input and some VCF files do not specify hemizygous (one X chromosome) and instead represent samples as homozygous. See PharmCAT FAQs (https://pharmcat.org/faqs/).
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
  • G6PD:B (reference)/
    B (reference)
G6PD: Low risk of acute hemolytic anemia No reason to avoid based on G6PD status Strong

nortriptyline

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Dosing Info
Genotype
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.

Other Considerations

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:
Unspecified

Dosing Info
Genotype
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

omeprazole

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Dosing Info
Genotype
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. Moderate

PharmGKB-DPWG 1

Genotype
CYP2C19:*38/*38
 
PharmGKB-DPWG provides no genotype-based recommendations for the following genotype, after evaluating the evidence.

Citations:

ondansetron

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
CYP2D6: Very limited data available for CYP2D6 intermediate metabolizers Insufficient evidence demonstrating clinical impact based on CYP2D6 genotype. Initiate therapy with recommended starting dose.

Other Considerations

Drug-drug interactions and other patient characteristics (e.g., age, renal function, and liver function) should be considered when selecting alternative therapy.
No recommendation

oxcarbazepine

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
OXC naive

Alternate Drug
Genotype
HLA-B: Greater risk of oxcarbazepine-induced SJS/TEN If patient is oxcarbazepine-naïve, do not use oxcarbazepine.

Other Considerations

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

CPIC 1

Population:
OXC use >3 mos

Other Guidance
Genotype
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.

Other Considerations

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

PharmGKB-DPWG 1

Population:
Unspecified

Alternate Drug
Other Guidance
Genotype
Stevens-Johnson syndrome, the severe cutaneous side effect that can potentially result in permanent damage, occurs more often in patients with this genetic variation. The calculated risk of oxcarbazepine-induced SJS in patients with HLA-B*1502 is 0.73%.
  • Carefully weigh the risk of SJS against the benefits.
  • Avoid oxcarbazepine if an alternative is available.
    • Carbamazepine carries a 10-fold higher risk of SJS/TEN in these patients and is therefore not an alternative.
    • In these patients, phenytoin and lamotrigine carry a similar risk of SJS/TEN as oxcarbazepine, but more severe forms of SJS/TEN (SJS/TEN overlap and TEN) are also observed with these medicines. Therefore, they are also not suitable as alternatives.
  • If it is not possible to avoid oxcarbazepine, advise the patient to report any rash immediately
N/A

pantoprazole

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Dosing Info
Genotype
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. Moderate

PharmGKB-DPWG 1

Genotype
CYP2C19:*38/*38
 
PharmGKB-DPWG provides no genotype-based recommendations for the following genotype, after evaluating the evidence.

Citations:

paromomycin

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Alternate Drug
Genotype
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.

Other Considerations

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

paroxetine

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Dosing Info
Genotype
CYP2D6: Reduced metabolism of paroxetine to less active compounds when compared to CYP2D6 normal metabolizers when starting treatment or at lower doses. Higher plasma concentrations may increase the probability of side effects. Paroxetine-associated phenoconversion of intermediate metabolizers to poor metabolizers due to CYP2D6 autoinhibition may occur and is dose-dependent and greater at steady state concentrations. Consider a lower starting dose and slower titration schedule as compared to normal metabolizers.

Other Considerations

Drug-drug interactions and other patient characteristics (e.g., age, renal function, liver function) should be considered when adjusting dose or selecting an alternative therapy.
Optional

PharmGKB-DPWG 1

Population:
Unspecified

No Action
Genotype
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

peginterferon alfa-2a

Guideline Genes Implications Recommendation Classification

CPIC 1

Genotype
IFNL3:rs12979860 reference (C)/rs12979860 reference (C)
 
CPIC provides no genotype-based recommendations for the following genotype, after evaluating the evidence.

peginterferon alfa-2b

Guideline Genes Implications Recommendation Classification

CPIC 1

Genotype
IFNL3:rs12979860 reference (C)/rs12979860 reference (C)
 
CPIC provides no genotype-based recommendations for the following genotype, after evaluating the evidence.

pegloticase

PharmCAT reports based on VCF file input and some VCF files do not specify hemizygous (one X chromosome) and instead represent samples as homozygous. See PharmCAT FAQs (https://pharmcat.org/faqs/).
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
  • G6PD:B (reference)/
    B (reference)
G6PD: Low risk of acute hemolytic anemia No reason to avoid based on G6PD status Strong

phenprocoumon

Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

No Action
Genotype
  • VKORC1:
    rs9923231 reference (C)/
    rs9923231 reference (C)
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). No recommendation

Citations:

phenytoin

The displayed recommendation for CYP2C9 and phenytoin is ONLY valid for non-carriers of the HLA-B*15:02 high-risk allele. PharmCAT Named Allele Matcher does not determine HLA status. CPIC guidance: Fos-/Phenytoin is contraindicated in individuals with the HLA-B*15:02 variant allele ("HLA-B*15:02-positive") due to significantly increased risk of fos-/phenytoin-induced cutaneous adverse reactions of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). In HLA-B*15:02 carriers, carbamazepine should not be used as an alternative. Alternative medications such as oxcarbazepine, eslicarbazepine acetate, and lamotrigine have some evidence linking SJS/TEN with the HLA-B*15:02 allele, and thus caution should be used in choosing alternatives to phenytoin.
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
PHT naive

Alternate Drug
Genotype
  • CYP2C9: Normal phenytoin metabolism
  • HLA-B: Increased risk of phenytoin-induced SJS/TEN
If patient is phenytoin-naive, do not use phenytoin/fosphenytoin. Avoid carbamazepine and oxcarbazepine.

Other Considerations

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

CPIC 1

Population:
PHT use >3mos

Other Guidance
Genotype
  • CYP2C9: Normal phenytoin metabolism
  • HLA-B: Increased risk of phenytoin-induced SJS/TEN
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.

Other Considerations

Previous tolerance of phenytoin is not indicative of tolerance to other aromatic anticonvulsants.
Optional

PharmGKB-DPWG 1, 2

Population:
Unspecified

No Action
Genotype
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. No recommendation

PharmGKB-DPWG 1, 2

Population:
Unspecified

Alternate Drug
Other Guidance
Genotype
The life-threatening cutaneous side effect Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) occurs more frequently in patients with this genetic variation. The calculated risk of phenytoin-induced SJS/TEN in patients with HLA-B*1502 is 0.65%.
  • Carefully weigh the risk of SJS/TEN against the benefits
  • Avoid phenytoin if an alternative is possible
    • Carbamazepine carries a 10-fold higher risk of SJS/TEN for these patients and is therefore not an alternative.
    • A comparable risk has been reported for lamotrigine as for phenytoin. The same applies for oxcarbazepine, but the most severe forms (SJS/TEN overlap and TEN) are not observed with oxcarbazepine.
  • if it is not possible to avoid this medication, then advise the patient to report any skin rash immediately
N/A

pimozide

Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

Dosing Info
Genotype
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 normal 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

piroxicam

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
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. Strong

pitavastatin

The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

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 Classification

CPIC 1

Population:
general

No Action
Genotype
SLCO1B1: Typical myopathy risk and statin exposure Prescribe desired starting dose and adjust doses based on disease-specific guidelines.

Other Considerations

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

plazomicin

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Alternate Drug
Genotype
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.

Other Considerations

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

pravastatin

The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

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 Classification

CPIC 1

Population:
general

No Action
Genotype
SLCO1B1: Typical myopathy risk and statin exposure Prescribe desired starting dose and adjust doses based on disease-specific guidelines.

Other Considerations

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

primaquine

PharmCAT reports based on VCF file input and some VCF files do not specify hemizygous (one X chromosome) and instead represent samples as homozygous. See PharmCAT FAQs (https://pharmcat.org/faqs/).
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
  • G6PD:B (reference)/
    B (reference)
G6PD: Low risk of acute hemolytic anemia No reason to avoid based on G6PD status Strong

propafenone

Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

Alternate Drug
Other Guidance
Genotype
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.
  • Either guide the dose by therapeutic drug monitoring, perform an ECG and be alert to side effects.
  • Or choose an alternative. Antiarrhythmic drugs that are hardly if at all metabolised by CYP2D6 include, for example, sotalol, disopyramide, quinidine and amiodarone.
N/A

Citations:

quetiapine

The CYP3A4 alleles are determined based on PharmVar CYP3A4 allele definitions. See PharmCAT disclaimer for further information.
Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

No Action
Genotype
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. No recommendation

rasburicase

PharmCAT reports based on VCF file input and some VCF files do not specify hemizygous (one X chromosome) and instead represent samples as homozygous. See PharmCAT FAQs (https://pharmcat.org/faqs/).
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
  • G6PD:B (reference)/
    B (reference)
G6PD: Low risk of acute hemolytic anemia No reason to avoid based on G6PD status Strong

ribavirin

Guideline Genes Implications Recommendation Classification

CPIC 1

Genotype
IFNL3:rs12979860 reference (C)/rs12979860 reference (C)
 
CPIC provides no genotype-based recommendations for the following genotype, after evaluating the evidence.

risperidone

Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

No Action
Genotype
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

Citations:

rosuvastatin

The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

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 Classification

CPIC 1

Population:
general

No Action
Genotype
  • ABCG2:
    rs2231142 reference (G)/
    rs2231142 reference (G)
    ;
    SLCO1B1:*1/*1
  • ABCG2: Typical myopathy risk and rosuvastatin exposure
  • SLCO1B1: Typical myopathy risk and statin exposure
Prescribe desired starting dose and adjust doses of rosuvastatin based on disease-specific and specific population guidelines.

Other Considerations

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

sertraline

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
  • CYP2B6: Normal metabolism of sertraline to less active compounds.
  • CYP2C19: Normal metabolism
Initiate therapy with recommended starting dose. Strong

PharmGKB-DPWG 1

Genotype
CYP2C19:*38/*38
 
PharmGKB-DPWG provides no genotype-based recommendations for the following genotype, after evaluating the evidence.

sevoflurane

If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Other Guidance
Genotype
These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong

simvastatin

The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

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 Classification

CPIC 1

Population:
general

No Action
Genotype
SLCO1B1: Typical myopathy risk and statin exposure Prescribe desired starting dose and adjust doses based on disease-specific guidelines.

Other Considerations

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

Population:
Unspecified

No Action
Genotype
The guideline does not provide a description of the impact of the SLCO1B1 521 TT genotype on simvastatin. The guideline does not provide a recommendation for atorvastatin in patients with the SLCO1B1 521 TT genotype. No recommendation

siponimod

Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

No Action
Genotype
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. No recommendation

streptomycin

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Alternate Drug
Genotype
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.

Other Considerations

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

succinylcholine

If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Other Guidance
Genotype
These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong

tacrolimus

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Dosing Info
Genotype
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.

Other Considerations

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:
Unspecified

Dosing Info
Genotype
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

Citations:

tafenoquine

PharmCAT reports based on VCF file input and some VCF files do not specify hemizygous (one X chromosome) and instead represent samples as homozygous. See PharmCAT FAQs (https://pharmcat.org/faqs/).
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
  • G6PD:B (reference)/
    B (reference)
G6PD: Low risk of acute hemolytic anemia No reason to avoid based on G6PD status

Other Considerations

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

tamoxifen

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Alternate Drug
Dosing Info
Genotype
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. Optional

PharmGKB-DPWG 1

Population:
Unspecified

Alternate Drug
Dosing Info
Genotype
This gene variation reduces the conversion of tamoxifen to the active metabolite endoxifen. This can result in reduced effectiveness.
  • Select an alternative or measure the endoxifen concentration and increase the dose if necessary, by a factor of 1.5-2. Aromatase inhibitors are a possible alternative for post-menopausal women.
  • If TAMOXIFEN is selected: avoid co-medication with CYP2D6 inhibitors such as paroxetine and fluoxetine.
N/A

Citations:

tegafur

The two lowest activity values (variant activity scores, see CPIC guideline PMID:29152729) are used for unphased data and the lowest activity value per allele is used for phased data to determine the gene activity score and phenotype to retrieve prescribing recommendations.
Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

No Action
Genotype
  • DPYD:Reference/
    Reference
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. No recommendation

Citations:

tenoxicam

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
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. Strong

thioguanine

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
  • NUDT15: Normal risk of thiopurine-related leukopenia, neutropenia, myelosuppression
  • TPMT: Lower concentrations of TGN metabolites, but note that TGN after thioguanine are 5-10X higher than TGN after mercaptopurine or azathioprine. Normal risk of thiopurine-related leukopenia, neutropenia, myelosuppression.
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).

Other Considerations

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

PharmGKB-DPWG 1, 2

Population:
Unspecified

No Action
Genotype
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 No recommendation

PharmGKB-DPWG 1, 2

Population:
Unspecified

No Action
Genotype
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. No recommendation

tobramycin

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Alternate Drug
Genotype
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.

Other Considerations

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

toluidine blue

PharmCAT reports based on VCF file input and some VCF files do not specify hemizygous (one X chromosome) and instead represent samples as homozygous. See PharmCAT FAQs (https://pharmcat.org/faqs/).
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
  • G6PD:B (reference)/
    B (reference)
G6PD: Low risk of acute hemolytic anemia No reason to avoid based on G6PD status

Other Considerations

Toluidine blue classification strength is based on extrapolation from methylene blue data
Strong

tramadol

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Other Guidance
Genotype
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. Optional

PharmGKB-DPWG 1

Population:
Unspecified

Alternate Drug
Dosing Info
Other Guidance
Genotype
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.
  1. Be alert to a reduced effectiveness.
  2. In the case of inadequate effectiveness:
  • a. Try a dose increase.
  • b. If this does not work: choose an alternative. Do not select codeine, as this is also metabolised by CYP2D6. Morphine is not metabolised by CYP2D6. Oxycodone is metabolised by CYP2D6 to a limited extent, but this does not result in differences in analgesia in patients.
  1. If no alternative is selected: advise the patient to report inadequate analgesia.
N/A

trimipramine

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Dosing Info
Genotype
  • CYP2C19: Normal metabolism of tertiary amines
  • 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. Utilize therapeutic drug monitoring to guide dose adjustments.

Other Considerations

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

tropisetron

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
CYP2D6: Very limited data available for CYP2D6 intermediate metabolizers Insufficient evidence demonstrating clinical impact based on CYP2D6 genotype. Initiate therapy with recommended starting dose.

Other Considerations

Drug-drug interactions and other patient characteristics (e.g., age, renal function, and liver function) should be considered when selecting alternative therapy.
No recommendation

venlafaxine

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
CYP2D6: Decreased metabolism of venlafaxine to active metabolite O-desmethylvenlafaxine (desvenlafaxine) and decreased O-desmethylvenlafaxine:venlafaxine ratio as compared to normal metabolizers. There is insufficient evidence supporting the clinical impact of the decreased O-desmethylvenlafaxine:venlafaxine ratio in CYP2D6 intermediate metabolizers. No action recommended based on genotype for venlafaxine because of minimal evidence regarding the impact on efficacy or side effects. No recommendation

PharmGKB-DPWG 1

Population:
Unspecified

Alternate Drug
Dosing Info
Genotype
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.
  • Avoid venlafaxine. Antidepressants that are not metabolised by CYP2D6 - or to a lesser extent - include, for example, duloxetine, mirtazapine, citalopram and sertraline.
  • If it is not possible to avoid venlafaxine and side effects occur:
  1. Reduce the dose
  2. Monitor the effect and side effects or check the plasma concentrations of venlafaxine and O-desmethylvenlafaxine. It is not known whether it is possible to reduce the dose to such an extent that the side effects disappear, while the effectiveness is maintained. In general, it is assumed that the effectiveness is determined by the sum of the plasma concentrations of venlafaxine and O-desmethylvenlafaxine. However, the side effects do not appear to be related to this sum.
N/A

voriconazole

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
adults

No Action
Genotype
CYP2C19: Normal voriconazole metabolism Initiate therapy with recommended standard of care dosing

Other Considerations

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:
pediatrics

No Action
Genotype
CYP2C19: Normal voriconazole metabolism Initiate therapy with recommended standard of care dosing

Other Considerations

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

Genotype
CYP2C19:*38/*38
 
PharmGKB-DPWG provides no genotype-based recommendations for the following genotype, after evaluating the evidence.

Citations:

vortioxetine

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

No Action
Genotype
CYP2D6: Reduced metabolism of vortioxetine to less active compounds when compared to CYP2D6 normal metabolizers. Higher plasma concentrations may increase the probability of side effects. Initiate therapy with recommended starting dose. Moderate

warfarin

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).
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
N/A

No Action
Genotype
  • CYP2C9:*1/*1;
    CYP4F2:*1/*1;
    VKORC1:
    rs9923231 reference (C)/
    rs9923231 reference (C)
    ;
    rs12777823:G/G
Figure 2 from the CPIC guideline for warfarin

PharmGKB-DPWG 1, 2

Population:
Unspecified

No Action
Genotype
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. No recommendation

PharmGKB-DPWG 1, 2

Population:
Unspecified

No Action
Genotype
  • VKORC1:
    rs9923231 reference (C)/
    rs9923231 reference (C)
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). No recommendation

zuclopenthixol

Guideline Genes Implications Recommendation Classification

PharmGKB-DPWG 1

Population:
Unspecified

Dosing Info
Genotype
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 normal dose. N/A

Citations:

Section III: Allele Matching Details

  1. ABCG2 allele match data
  2. CACNA1S allele match data
  3. CFTR allele match data
  4. CYP2B6 allele match data
  5. CYP2C19 allele match data
  6. CYP2C9 allele match data
  7. CYP2D6 allele match data
  8. CYP3A4 allele match data
  9. CYP3A5 allele match data
  10. CYP4F2 allele match data
  11. DPYD allele match data
  12. F5 allele match data
  13. G6PD allele match data
  14. HLA-B allele match data
  15. IFNL3/4 allele match data
  16. MT-RNR1 allele match data
  17. NUDT15 allele match data
  18. RYR1 allele match data
  19. SLCO1B1 allele match data
  20. TPMT allele match data
  21. UGT1A1 allele match data
  22. VKORC1 allele match data

No data provided for 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 and Function Warnings
chr4:88131171 rs2231142 G/G G
  • rs2231142 variant (T) - Decreased function

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.

The CACNA1S Reference allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr1:201060815 rs1800559 C/C C
  • c.3257G>A - Malignant Hyperthermia associated
chr1:201091993 rs772226819 G/G G
  • c.520C>T - Malignant Hyperthermia associated

CFTR 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 and Function Warnings
chr7:117509035 rs397508256 G/G G
  • E56K - ivacaftor responsive
chr7:117509069 rs368505753 C/C C
  • P67L - ivacaftor responsive
chr7:117509089 rs115545701 C/C C
  • R74W - ivacaftor responsive
chr7:117530953 rs113993958 G/G G
  • D110H - ivacaftor responsive
chr7:117530955 rs397508537 C/C C
  • D110E - ivacaftor responsive
chr7:117530974 rs77834169 C/C C
  • R117C - ivacaftor responsive
chr7:117530975 rs78655421 G/G G
  • R117H - ivacaftor responsive
chr7:117534318 rs80282562 G/G G
  • G178R - ivacaftor responsive
chr7:117534363 rs397508759 G/G G
  • E193K - ivacaftor responsive
chr7:117534368 rs397508761 A/A A
  • 711+3A->G - ivacaftor responsive
chr7:117535285 rs121908752 T/T T
  • L206W - ivacaftor responsive
chr7:117540270 rs77932196 G/G G
  • R347H - ivacaftor responsive
chr7:117540285 rs121908753 G/G G
  • R352Q - ivacaftor responsive
chr7:117548795 rs74551128 C/C C
  • A455E - ivacaftor responsive
chr7:117587799 rs121908757 A/A A
  • S549R(A>C) - ivacaftor responsive
chr7:117587800 rs121908755 G/G G
  • S549N - ivacaftor responsive
chr7:117587801 rs121909005 T/T T
  • S549R(T>G) - ivacaftor responsive
chr7:117587805 rs121909013 G/G G
  • G551S - ivacaftor responsive
chr7:117587806 rs75527207 G/G G
  • G551D - ivacaftor responsive
chr7:117590409 rs397508288 A/A A
  • D579G - ivacaftor responsive
chr7:117594930 rs397508387 G/G G
  • E831X - ivacaftor responsive
chr7:117602868 rs80224560 G/G G
  • 2789+5G->A - ivacaftor responsive
chr7:117603708 rs397508442 C/C C
  • S945L - ivacaftor responsive
chr7:117606695 rs141033578 C/C C
  • S977F - ivacaftor responsive
chr7:117611555 rs76151804 A/A A
  • 3272-26A->G - ivacaftor responsive
chr7:117611595 rs150212784 T/T T
  • F1052V - ivacaftor responsive
chr7:117611620 rs397508513 A/A A
  • K1060T - ivacaftor responsive
chr7:117611640 rs121909020 G/G G
  • A1067T - ivacaftor responsive
chr7:117611646 rs200321110 G/G G
  • G1069R - ivacaftor responsive
chr7:117611649 rs202179988 C/C C
  • R1070W - ivacaftor responsive
chr7:117611650 rs78769542 G/G G
  • R1070Q - ivacaftor responsive
chr7:117611663 rs186045772 T/T T
  • F1074L - ivacaftor responsive
chr7:117614699 rs75541969 G/G G
  • D1152H - ivacaftor responsive
chr7:117639961 rs75039782 C/C C
  • 3849+10kbC->T - ivacaftor responsive
chr7:117642451 rs267606723 G/G G
  • G1244E - ivacaftor responsive
chr7:117642472 rs74503330 G/G G
  • S1251N - ivacaftor responsive
chr7:117642483 rs121909041 T/T T
  • S1255P - ivacaftor responsive
chr7:117642528 rs11971167 G/G G
  • D1270N - ivacaftor responsive
chr7:117664770 rs193922525 G/G G
  • G1349D - ivacaftor responsive

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.

The CYP2B6 *1 allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr19:40991224 rs34223104 T/T T
  • *22 - Increased function
  • *34 - Decreased function
  • *35 - No function
  • *36 - Decreased function
chr19:40991367 rs34883432 A/A A
  • *10 - Uncertain function
chr19:40991369 rs8192709 C/C C
  • *2 - Normal function
  • *10 - Uncertain function
chr19:40991381 rs33973337 A/A A
  • *17 - Normal function
chr19:40991388 rs33980385 A/A A
  • *17 - Normal function
chr19:40991390 rs33926104 C/C C
  • *17 - Normal function
chr19:40991391 rs34284776 G/G G
  • *17 - Normal function
chr19:40991441 rs35303484 A/A A
  • *11 - Uncertain function
chr19:41004015 rs281864907 T/T T
  • *38 - No function
chr19:41004125 rs36060847 G/G G
  • *12 - No function
chr19:41004133 rs148009906 G/G G
  • *44 - Unassigned function
chr19:41004158 rs186335453 G/G G
  • *35 - No function
chr19:41004303 rs139801276 T/T T
  • *35 - No function
chr19:41004377 rs12721655 A/A A
  • *8 - No function
  • *13 - No function
chr19:41004380 rs535039125 C/C C
  • *39 - Unassigned function
chr19:41004381 rs35773040 G/G G
  • *14 - Uncertain function
chr19:41004406 rs145884402 G/G G
  • *35 - No function
chr19:41006919 rs3826711 C/C C
  • *26 - Decreased function
chr19:41006923 rs36056539 C/C C
  • *20 - Decreased function
chr19:41006936 rs3745274 G/G G
  • *6 - Decreased function
  • *7 - Decreased function
  • *9 - Decreased function
  • *13 - No function
  • *19 - Decreased function
  • *20 - Decreased function
  • *26 - Decreased function
  • *34 - Decreased function
  • *36 - Decreased function
  • *37 - No function
  • *38 - No function
  • *39 - Unassigned function
  • *40 - Unassigned function
  • *41 - Unassigned function
  • *42 - Unassigned function
  • *43 - Unassigned function
chr19:41006967 rs58871670 G/G G
  • *45 - Unassigned function
chr19:41006968 rs373489637 T/T T
  • *37 - No function
chr19:41007013 rs36079186 T/T T
  • *27 - Uncertain function
  • *35 - No function
chr19:41009313 A/A A
  • *46 - Unassigned function
chr19:41009350 rs45482602 C/C C
  • *3 - Uncertain function
chr19:41009358 rs2279343 A/A A
  • *4 - Increased function
  • *6 - Decreased function
  • *7 - Decreased function
  • *13 - No function
  • *18 - No function
  • *19 - Decreased function
  • *20 - Decreased function
  • *26 - Decreased function
  • *34 - Decreased function
  • *36 - Decreased function
  • *37 - No function
  • *38 - No function
  • *39 - Unassigned function
  • *40 - Unassigned function
  • *41 - Unassigned function
  • *42 - Unassigned function
  • *43 - Unassigned function
chr19:41010006 rs139029625 G/G G
  • *35 - No function
chr19:41010088 rs34698757 C/C C
  • *28 - No function
chr19:41010108 rs193922917 C/C C
  • *31 - Normal function
chr19:41012316 rs28399499 T/T T
  • *18 - No function
chr19:41012339 rs34826503 C/C C
  • *19 - Decreased function
chr19:41012393 rs754621576 T/T T
  • *47 - Unassigned function
chr19:41012394 rs780991919 A/A A
  • *47 - Unassigned function
chr19:41012465 rs34097093 C/C C
  • *28 - No function
chr19:41012466 rs200458614 G/G G
  • *40 - Unassigned function
chr19:41012471 rs201500445 T/T T
  • *41 - Unassigned function
chr19:41012478 rs200238771 T/T T
  • *48 - Unassigned function
chr19:41012693 rs35979566 T/T T
  • *15 - Uncertain function
chr19:41012740 rs193922918 G/G G
  • *32 - Normal function
chr19:41012803 rs35010098 C/C C
  • *21 - Uncertain function
chr19:41016652 rs764288403 G/G G
  • *49 - Unassigned function
chr19:41016679 rs374099483 G/G G
  • *42 - Unassigned function
chr19:41016726 rs3211369 A/A A
  • *23 - Unknown function
chr19:41016741 rs117872433 G/G G
  • *43 - Unassigned function
chr19:41016778 rs564083989 G/G G
  • *24 - No function
chr19:41016805 A/A A
  • *25 - Unknown function
chr19:41016810 rs3211371 C/C C
  • *5 - Normal function
  • *7 - Decreased function
  • *33 - Uncertain function
  • *34 - Decreased function

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.

The CYP2C19 *38 allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr10:94761900 rs12248560 C/C C
  • *4 - No function
  • *17 - Increased function
chr10:94762706 rs28399504 A/A A
  • *4 - No function
chr10:94762712 rs367543002 C/C C
  • *34 - Uncertain function
chr10:94762715 rs367543003 T/T T
  • *34 - Uncertain function
chr10:94762755 rs55752064 T/T T
  • *14 - Uncertain function
chr10:94762760 rs17882687 A/A A
  • *15 - Normal function
  • *28 - Normal function
  • *35 - No function
  • *39 - Uncertain function
chr10:94762788 rs1564656981 A/A A
  • *29 - Uncertain function
chr10:94762856 rs1564657013 A/A A
  • *19 - Decreased function
chr10:94775106 rs145328984 C/C C
  • *30 - Uncertain function
chr10:94775121 rs1564660997 C/C C
  • *31 - Uncertain function
chr10:94775160 rs118203756 G/G G
  • *23 - Uncertain function
chr10:94775185 rs1288601658 A/A A
  • *32 - Uncertain function
chr10:94775367 rs12769205 A/A A
  • *2 - No function
  • *35 - No function
chr10:94775416 rs41291556 T/T T
  • *8 - No function
chr10:94775423 rs17885179 A/A A
  • *39 - Uncertain function
chr10:94775453 rs72552267 G/G G
  • *6 - No function
chr10:94775489 rs17884712 G/G G
  • *9 - Decreased function
chr10:94775507 rs58973490 G/G G
  • *2 - No function
  • *11 - Normal function
chr10:94780574 rs140278421 G/G G
  • *22 - No function
chr10:94780579 rs370803989 G/G G
  • *33 - Uncertain function
chr10:94780653 rs4986893 G/G G
  • *3 - No function
chr10:94781858 rs6413438 C/C C
  • *10 - Decreased function
chr10:94781859 rs4244285 G/G G
  • *2 - No function
chr10:94781944 rs375781227 G/G G
  • *26 - Decreased function
chr10:94781999 rs72558186 T/T T
  • *7 - No function
chr10:94842861 rs138142612 G/G G
  • *18 - Normal function
chr10:94842866 rs3758581 A/A A
  • *1 - Normal function
  • *2 - No function
  • *3 - No function
  • *4 - No function
  • *5 - No function
  • *6 - No function
  • *7 - No function
  • *8 - No function
  • *9 - Decreased function
  • *10 - Decreased function
  • *11 - Normal function
  • *12 - Uncertain function
  • *13 - Normal function
  • *14 - Uncertain function
  • *15 - Normal function
  • *17 - Increased function
  • *18 - Normal function
  • *19 - Decreased function
  • *22 - No function
  • *23 - Uncertain function
  • *24 - No function
  • *25 - Decreased function
  • *26 - Decreased function
  • *28 - Normal function
  • *29 - Uncertain function
  • *31 - Uncertain function
  • *32 - Uncertain function
  • *33 - Uncertain function
  • *35 - No function
  • *39 - Uncertain function
chr10:94842879 rs118203757 G/G G
  • *24 - No function
chr10:94842995 rs113934938 G/G G
  • *28 - Normal function
chr10:94849995 rs17879685 C/C C
  • *13 - Normal function
chr10:94852738 rs56337013 C/C C
  • *5 - No function
chr10:94852765 rs192154563 C/C C
  • *16 - Decreased function
chr10:94852785 rs118203759 C/C C
  • *25 - Decreased function
chr10:94852914 rs55640102 A/A A
  • *12 - Uncertain function

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.

The CYP2C9 *1 allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr10:94938683 rs114071557 A/A A
  • *36 - n/a
chr10:94938719 T/T T
  • *80 - Unassigned function
chr10:94938737 rs67807361 C/C C
  • *7 - n/a
chr10:94938771 rs142240658 C/C C
  • *21 - n/a
chr10:94938788 C/C C
  • *83 - Unassigned function
chr10:94938800 rs1364419386 G/G G
  • *76 - Unassigned function
chr10:94938803 rs2031308986 A/A A
  • *22 - n/a
chr10:94938828 rs564813580 A/A A
  • *37 - 0.5
chr10:94941897 rs371055887 G/G G
  • *20 - n/a
chr10:94941915 G/G G
  • *23 - 0.5
chr10:94941958 rs72558187 T/T T
  • *13 - 0.0
chr10:94941975 G/G G
  • *77 - Unassigned function
chr10:94941976 G/G G
  • *38 - 0.5
chr10:94941982 rs762239445 G/G G
  • *39 - 0.0
chr10:94942018 T/T T
  • *40 - n/a
chr10:94942205 rs1304490498 CAATGGAAA
GA/
CAATGGAAA
GA
CAATGGAAA
GA
  • *25 - 0.0
chr10:94942216 rs774607211 A/A A
  • *41 - n/a
chr10:94942230 rs767576260 C/C C
  • *43 - 0.0
chr10:94942231 rs12414460 G/G G
  • *42 - 0.0
chr10:94942233 rs375805362 C/C C
  • *62 - n/a
chr10:94942234 rs72558189 G/G G
  • *14 - 0.5
  • *35 - 0.0
chr10:94942243 rs1375956433 T/T T
  • *78 - Unassigned function
chr10:94942249 rs200965026 C/C C
  • *26 - 0.5
  • *44 - 0.5
chr10:94942254 rs199523631 C/C C
  • *45 - 0.0
chr10:94942255 rs200183364 G/G G
  • *33 - 0.0
chr10:94942290 rs1799853 C/C C
  • *2 - 0.5
  • *35 - 0.0
  • *61 - 0.5
chr10:94942291 rs141489852 G/G G
  • *63 - n/a
chr10:94942305 rs754487195 G/G G
  • *46 - 0.5
chr10:94942306 rs1289704600 C/C C
  • *72 - n/a
chr10:94942308 rs17847037 C/C C
  • *73 - n/a
chr10:94942309 rs7900194 G/G G
  • *8 - 0.5
  • *27 - n/a
chr10:94947782 rs72558190 C/C C
  • *15 - 0.0
chr10:94947785 rs774550549 C/C C
  • *47 - n/a
chr10:94947869 A/A A
  • *69 - n/a
chr10:94947907 A/A A
  • *57 - n/a
chr10:94947917 rs1326630788 T/T T
  • *48 - n/a
chr10:94947938 rs2031531005 A/A A
  • *28 - 0.5
chr10:94947939 rs370100007 G/G G
  • *74 - n/a
chr10:94949129 A/A A
  • *49 - n/a
chr10:94949144 C/C C
  • *50 - 0.5
chr10:94949145 rs772782449 C/C C
  • *82 - Unassigned function
chr10:94949161 AT/AT AT
  • *85 - Unassigned function
chr10:94949217 rs2256871 A/A A
  • *9 - 1.0
chr10:94949280 rs9332130 A/A A
  • *10 - n/a
  • *71 - n/a
chr10:94949281 rs9332131 GA/GA GA
  • *6 - 0.0
chr10:94972119 rs182132442 C/C C
  • *29 - 0.5
chr10:94972123 C/C C
  • *64 - n/a
chr10:94972134 A/A A
  • *51 - n/a
chr10:94972179 rs72558192 A/A A
  • *16 - 0.5
chr10:94972180 rs988617574 C/C C
  • *52 - 0.0
chr10:94972183 A/A A
  • *81 - Unassigned function
chr10:94972233 rs1237225311 C/C C
  • *53 - n/a
chr10:94981199 G/G G
  • *65 - n/a
chr10:94981201 rs57505750 T/T T
  • *31 - 0.5
chr10:94981224 rs28371685 C/C C
  • *11 - 0.5
chr10:94981225 rs367826293 G/G G
  • *34 - n/a
chr10:94981230 rs1274535931 C/C C
  • *58 - n/a
chr10:94981250 rs750820937 C/C C
  • *54 - n/a
chr10:94981258 rs1297714792 C/C C
  • *79 - Unassigned function
chr10:94981281 rs749060448 G/G G
  • *24 - 0.0
chr10:94981296 rs1057910 A/A A
  • *3 - 0.0
  • *18 - n/a
  • *68 - n/a
chr10:94981297 rs56165452 T/T T
  • *4 - 0.5
chr10:94981301 rs28371686 C/C C
  • *5 - 0.5
chr10:94981302 rs1250577724 C/C C
  • *55 - 0.5
chr10:94981305 rs578144976 C/C C
  • *66 - n/a
chr10:94981365 C/C C
  • *17 - n/a
chr10:94981371 rs542577750 G/G G
  • *68 - n/a
chr10:94986042 rs764211126 A/A A
  • *56 - n/a
chr10:94986073 rs72558193 A/A A
  • *18 - n/a
chr10:94986136 rs1254213342 A/A A
  • *75 - n/a
chr10:94986174 rs1441296358 G/G G
  • *84 - Unassigned function
chr10:94988852 rs776908257 C/C C
  • *67 - n/a
chr10:94988855 A/A A
  • *59 - n/a
chr10:94988880 G/G G
  • *70 - n/a
chr10:94988917 rs769942899 G/G G
  • *19 - n/a
chr10:94988925 rs202201137 A/A A
  • *61 - 0.5
chr10:94988955 rs767284820 T/T T
  • *60 - n/a
chr10:94988984 rs781583846 G/G G
  • *30 - 0.5
chr10:94989020 rs9332239 C/C C
  • *12 - 0.5
  • *71 - n/a
chr10:94989023 rs868182778 G/G G
  • *32 - n/a

Other Positions of Interest

Position in VCF RSID Call in VCF
chr10:94645745 rs12777823 G/G

CYP2D6 allele match data

Genotype Reported: *1/*3
This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source.

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.

The CYP3A4 alleles are determined based on PharmVar CYP3A4 allele definitions. See PharmCAT disclaimer for further information.
The CYP3A4 *1 allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr7:99758183 rs67666821 G/G G
  • *20 - No function
chr7:99758228 rs1584538410 T/T T
  • *46 - Unassigned function
chr7:99760836 rs4986913 G/G G
  • *19 - Unassigned function
chr7:99760901 rs4986910 A/A A
  • *3 - Unassigned function
  • *37 - Unassigned function
  • *38 - Unassigned function
chr7:99760956 rs774109750 T/T T
  • *34 - Unassigned function
chr7:99762047 rs4986909 G/G G
  • *13 - Decreased function
chr7:99762054 A/A A
  • *45 - Unassigned function
chr7:99762069 T/T T
  • *47 - Unassigned function
chr7:99762177 rs12721629 G/G G
  • *12 - Decreased function
chr7:99762186 rs756833413 C/C C
  • *33 - Unassigned function
chr7:99762206 rs67784355 G/G G
  • *11 - Decreased function
  • *38 - Unassigned function
chr7:99762234 C/C C
  • *48 - Unassigned function
chr7:99763877 rs368296206 A/A A
  • *32 - Unassigned function
chr7:99763909 rs1303250043 G/G G
  • *31 - Unassigned function
chr7:99763925 T/T T
  • *21 - Unassigned function
chr7:99764003 rs28371759 A/A A
  • *18 - Decreased function
chr7:99766411 rs4646438 G/G G
  • *6 - No function
chr7:99766424 T/T T
  • *44 - Unassigned function
chr7:99766439 C/C C
  • *43 - Unassigned function
chr7:99766440 rs138105638 G/G G
  • *26 - No function
chr7:99768360 rs55785340 A/A A
  • *2 - Unassigned function
chr7:99768371 rs55901263 G/G G
  • *5 - Unassigned function
chr7:99768424 rs113667357 T/T T
  • *24 - Unassigned function
chr7:99768447 T/T T
  • *42 - Unassigned function
chr7:99768458 rs4987161 A/A A
  • *17 - Decreased function
chr7:99768470 rs12721627 G/G G
  • *16 - Decreased function
chr7:99768693 rs35599367 G/G G
  • *22 - Decreased function
  • *37 - Unassigned function
chr7:99769769 rs4986908 C/C C
  • *10 - Unassigned function
chr7:99769781 rs72552798 C/C C
  • *9 - Unassigned function
chr7:99769804 rs4986907 C/C C
  • *15 - Unassigned function
chr7:99769805 rs57409622 G/G G
  • *23 - Unassigned function
chr7:99770165 rs72552799 C/C C
  • *8 - Decreased function
chr7:99770166 rs778013004 G/G G
  • *30 - Unassigned function
chr7:99770196 T/T T
  • *41 - Unassigned function
chr7:99770202 rs55951658 T/T T
  • *4 - Unassigned function
chr7:99770217 rs1449865051 A/A A
  • *29 - Unassigned function
chr7:99778079 rs56324128 C/C C
  • *7 - Unassigned function
chr7:99780036 G/G G
  • *40 - Unassigned function
chr7:99784018 rs570051168 G/G G
  • *28 - Unassigned function
chr7:99784038 rs12721634 A/A A
  • *14 - Unassigned function
chr7:99784075 rs188389063 G/G G
  • *35 - Unassigned function
chr7:99784078 C/C C
  • *39 - Unassigned function

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.

The CYP3A5 *1 allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr7:99652770 rs41303343 T/T T
  • *7 - No function
chr7:99660516 rs28383479 C/C C
  • *9 - Unknown function
chr7:99665212 rs10264272 C/C C
  • *6 - No function
chr7:99672916 rs776746 T/T T
  • *3 - No function
chr7:99676198 rs55817950 G/G G
  • *8 - Unknown function

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.

The CYP4F2 *1 allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr19:15878779 rs3093200 G/G G
  • *5 - Unassigned function
chr19:15879412 rs138971789 C/C C
  • *15 - Unassigned function
chr19:15879621 rs2108622 C/C C
  • *3 - Unassigned function
  • *4 - Unassigned function
chr19:15886018 rs145174239 G/G G
  • *14 - Unassigned function
chr19:15889671 rs144233412 C/C C
  • *13 - Unassigned function
chr19:15890405 rs3093153 C/C C
  • *6 - Unassigned function
chr19:15892541 rs145875499 C/C C
  • *12 - Unassigned function
chr19:15895527 rs114396708 G/G G
  • *11 - Unassigned function
chr19:15895560 rs144455532 G/G G
  • *10 - Unassigned function
chr19:15897466 rs201380574 C/C C
  • *9 - Unassigned function
chr19:15897473 rs115517770 G/G G
  • *8 - Unassigned function
chr19:15897566 rs114099324 C/C C
  • *7 - Unassigned function
chr19:15897578 rs3093105 A/A A
  • *2 - Unassigned function
  • *4 - Unassigned function

DPYD allele match data

Genotype Matched: Reference/Reference
Phasing Status:

Unphased

The two lowest activity values (variant activity scores, see CPIC guideline PMID:29152729) are used for unphased data and the lowest activity value per allele is used for phased data to determine the gene activity score and phenotype to retrieve prescribing recommendations.
The DPYD Reference allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr1:97078987 rs114096998 G/G G
  • c.3067C>A - 1.0
chr1:97078993 rs148799944 C/C C
  • c.3061G>C - 1.0
chr1:97079005 rs140114515 C/C C
  • c.3049G>A - 1.0
chr1:97079071 rs1801268 C/C C
  • c.2983G>T (*10) - 0.0
chr1:97079076 rs139459586 A/A A
  • c.2978T>G - 1.0
chr1:97079077 rs202144771 G/G G
  • c.2977C>T - 1.0
chr1:97079121 rs72547601 T/T T
  • c.2933A>G - 0.0
chr1:97079133 rs72547602 T/T T
  • c.2921A>T - 1.0
chr1:97079139 rs145529148 T/T T
  • c.2915A>G - 1.0
chr1:97082365 rs141044036 T/T T
  • c.2872A>G - 0.0
chr1:97082391 rs67376798 T/T T
  • c.2846A>T - 0.5
chr1:97098598 rs1801267 C/C C
  • c.2657G>A (*9B) - 1.0
chr1:97098599 rs147545709 G/G G
  • c.2656C>T - 1.0
chr1:97098616 rs55674432 C/C C
  • c.2639G>T - 0.0
chr1:97098632 rs201035051 T/T T
  • c.2623A>C - 1.0
chr1:97193109 rs60139309 T/T T
  • c.2582A>G - 1.0
chr1:97193209 rs200687447 C/C C
  • c.2482G>A - 1.0
chr1:97234958 rs199634007 G/G G
  • c.2336C>A - 1.0
chr1:97234991 rs56005131 G/G G
  • c.2303C>A - 1.0
chr1:97305279 rs112766203 G/G G
  • c.2279C>T - 0.5
chr1:97305363 rs60511679 A/A A
  • c.2195T>G - 1.0
chr1:97305364 rs1801160 C/C C
  • c.2194G>A (*6) - 1.0
chr1:97305372 rs146529561 G/G G
  • c.2186C>T - 1.0
chr1:97306195 rs145548112 C/C C
  • c.2161G>A - 1.0
chr1:97373598 rs137999090 C/C C
  • c.2021G>A - 0.0
chr1:97373629 rs138545885 C/C C
  • c.1990G>T - 1.0
chr1:97382461 rs55971861 T/T T
  • c.1906A>C - 1.0
chr1:97450058 rs3918290 C/C C
  • c.1905+1G>A (*2A) - 0.0
chr1:97450059 rs3918289 G/G G
  • c.1905C>G - 1.0
chr1:97450065 rs72549303 TG/TG TG
  • c.1898delC (*3) - 0.0
chr1:97450068 rs17376848 A/A A
  • c.1896T>C - 1.0
chr1:97450168 rs147601618 A/A A
  • c.1796T>C - 1.0
chr1:97450187 rs145773863 C/C C
  • c.1777G>A - 0.0
chr1:97450189 rs138616379 C/C C
  • c.1775G>A - 0.0
chr1:97450190 rs59086055 G/G G
  • c.1774C>T - 0.0
chr1:97515784 rs201615754 C/C C
  • c.1682G>T - 1.0
chr1:97515787 rs55886062 A/A A
  • c.1679T>G (*13) - 0.0
chr1:97515839 rs1801159 T/T T
  • c.1627A>G (*5) - 1.0
chr1:97515851 rs142619737 C/C C
  • c.1615G>A - 1.0
chr1:97515865 rs1801158 C/C C
  • c.1601G>A (*4) - 1.0
chr1:97515889 rs190951787 G/G G
  • c.1577C>G - 1.0
chr1:97515923 rs148994843 C/C C
  • c.1543G>A - 1.0
chr1:97549565 rs138391898 C/C C
  • c.1519G>A - 1.0
chr1:97549600 rs111858276 T/T T
  • c.1484A>G - 0.0
chr1:97549609 rs72549304 G/G G
  • c.1475C>T - 0.0
chr1:97549681 rs199549923 G/G G
  • c.1403C>A - 1.0
chr1:97549713 rs57918000 G/G G
  • c.1371C>T - 1.0
chr1:97549726 rs144395748 G/G G
  • c.1358C>G - 1.0
chr1:97549735 rs72975710 G/G G
  • c.1349C>T - 1.0
chr1:97573785 rs186169810 A/A A
  • c.1314T>G - 0.5
chr1:97573805 rs142512579 C/C C
  • c.1294G>A - 1.0
chr1:97573821 rs764666241 C/C C
  • c.1278G>T - 1.0
chr1:97573839 rs200064537 A/A A
  • c.1260T>A - 1.0
chr1:97573863 rs56038477 C/C C
  • c.1129-5923C>G, c.1236G>A (HapB3) - 0.5
chr1:97573881 rs61622928 C/C C
  • c.1218G>A - 1.0
chr1:97573918 rs143815742 C/C C
  • c.1181G>T - 1.0
chr1:97573919 rs140602333 G/G G
  • c.1180C>T - 1.0
chr1:97573943 rs78060119 C/C C
  • c.1156G>T (*12) - 0.0
chr1:97579893 rs75017182 G/G G
  • c.1129-5923C>G, c.1236G>A (HapB3) - 0.5
chr1:97593238 rs72549305 T/T T
  • c.1108A>G - 1.0
chr1:97593289 rs143154602 G/G G
  • c.1057C>T - 0.0
chr1:97593322 rs183385770 C/C C
  • c.1024G>A - 0.0
chr1:97593343 rs72549306 C/C C
  • c.1003G>T (*11) - 1.0
chr1:97593379 rs201018345 C/C C
  • c.967G>A - 1.0
chr1:97595083 rs145112791 G/G G
  • c.934C>T - 1.0
chr1:97595088 rs150437414 A/A A
  • c.929T>C - 1.0
chr1:97595149 rs146356975 T/T T
  • c.868A>G - 0.5
chr1:97679170 rs45589337 T/T T
  • c.775A>G - 1.0
chr1:97691776 rs1801266 G/G G
  • c.703C>T (*8) - 0.0
chr1:97699399 rs72549307 T/T T
  • c.632A>G - 0.0
chr1:97699430 rs72549308 T/T T
  • c.601A>C - 0.0
chr1:97699474 rs115232898 T/T T
  • c.557A>G - 0.5
chr1:97699506 rs6670886 C/C C
  • c.525G>A - 1.0
chr1:97699533 rs139834141 C/C C
  • c.498G>A - 1.0
chr1:97699535 rs2297595 T/T T
  • c.496A>G - 1.0
chr1:97721542 rs200562975 T/T T
  • c.451A>G - 1.0
chr1:97721650 rs141462178 T/T T
  • c.343A>G - 1.0
chr1:97740400 rs150385342 C/C C
  • c.313G>A - 1.0
chr1:97740410 rs72549309 GATGA/
GATGA
GATGA
  • c.295_298delTCAT (*7) - 0.0
chr1:97883329 rs1801265 A/A A
  • c.85T>C (*9A) - 1.0
chr1:97883352 rs80081766 C/C C
  • c.62G>A - 1.0
chr1:97883353 rs72549310 G/G G
  • c.61C>T - 0.0
chr1:97883368 rs150036960 G/G G
  • c.46C>G - 1.0

F5 allele match data

Genotype Matched: rs6025 C/rs6025 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 and Function Warnings
chr1:169549811 rs6025 C/C C
  • rs6025 T (Factor V Leiden) - Factor V Leiden positive

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.

PharmCAT reports based on VCF file input and some VCF files do not specify hemizygous (one X chromosome) and instead represent samples as homozygous. See PharmCAT FAQs (https://pharmcat.org/faqs/).
The G6PD B (reference) allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chrX:154532046 A/A A
  • Bangkok Noi - I/Deficient with CNSHA
chrX:154532055 CTCT/CTCT CTCT
  • Brighton - I/Deficient with CNSHA
chrX:154532082 G/G G
  • Arakawa - I/Deficient with CNSHA
chrX:154532083 G/G G
  • Buenos Aires - I/Deficient with CNSHA
chrX:154532085 C/C C
  • Campinas - I/Deficient with CNSHA
chrX:154532086 C/C C
  • Fukaya - I/Deficient with CNSHA
chrX:154532203 rs137852348 G/G G
  • Split - III/Deficient
chrX:154532231 T/T T
  • Laibin - Uncertain function
chrX:154532245 rs137852344 G/G G
  • Neapolis - III/Deficient
chrX:154532257 rs72554664 C/C C
  • Kaiping, Anant, Dhon, Sapporo-like, Wosera - II/Deficient
chrX:154532258 G/G G
  • Flores - II/Deficient
  • Kamiube, Keelung - III/Deficient
chrX:154532264 rs782608284 C/C C
  • Yunan - Uncertain function
chrX:154532265 C/C C
  • Nice - III/Deficient
chrX:154532269 rs72554665 C/C C
  • Bangkok Noi - I/Deficient with CNSHA
  • Canton, Taiwan-Hakka, Gifu-like, Agrigento-like - II/Deficient
  • Cosenza - II/Deficient
chrX:154532278 T/T T
  • Amiens - I/Deficient with CNSHA
chrX:154532279 C/C C
  • Figuera da Foz - I/Deficient with CNSHA
chrX:154532389 rs137852324 C/C C
  • Andalus - II/Deficient
chrX:154532390 rs398123546 G/G G
  • Hermoupolis - II/Deficient
  • Honiara - I/Deficient with CNSHA
  • Union,Maewo, Chinese-2, Kalo - II/Deficient
chrX:154532392 A/A A
  • Harima - I/Deficient with CNSHA
chrX:154532403 C/C C
  • Cassano - II/Deficient
  • Hermoupolis - II/Deficient
chrX:154532408 T/T T
  • S. Antioco - II/Deficient
chrX:154532411 rs137852317 C/C C
  • Santiago de Cuba, Morioka - I/Deficient with CNSHA
chrX:154532432 G/G G
  • Telti, Kobe - I/Deficient with CNSHA
chrX:154532434 rs137852337 C/C C
  • Pawnee - II/Deficient
chrX:154532458 A/A A
  • Sumare - I/Deficient with CNSHA
chrX:154532459 rs782098548 C/C C
  • Surabaya - II/Deficient
chrX:154532570 G/G G
  • Georgia - I/Deficient with CNSHA
chrX:154532590 G/G G
  • 202G>A_376A>G_1264C>G - I/Deficient with CNSHA
chrX:154532608 C/C C
  • Tokyo, Fukushima - I/Deficient with CNSHA
chrX:154532623 T/T T
  • Munich - I/Deficient with CNSHA
chrX:154532625 rs137852336 C/C C
  • Japan, Shinagawa - I/Deficient with CNSHA
  • Kawasaki - I/Deficient with CNSHA
chrX:154532626 rs137852323 C/C C
  • Riverside - I/Deficient with CNSHA
chrX:154532628 G/G G
  • Suwalki - I/Deficient with CNSHA
chrX:154532629 G/G G
  • Utrecht - I/Deficient with CNSHA
chrX:154532634 T/T T
  • Abeno - II/Deficient
chrX:154532639 C/C C
  • Clinic - I/Deficient with CNSHA
chrX:154532649 G/G G
  • Covao do Lobo - I/Deficient with CNSHA
chrX:154532661 T/T T
  • Anadia - II/Deficient
chrX:154532662 rs137852325 C/C C
  • Puerto Limon - I/Deficient with CNSHA
chrX:154532667 G/G G
  • Bari - I/Deficient with CNSHA
chrX:154532674 rs137852335 C/C C
  • Alhambra - I/Deficient with CNSHA
chrX:154532676 rs137852316 C/C C
  • Nashville, Anaheim, Portici - I/Deficient with CNSHA
chrX:154532677 G/G G
  • Wisconsin - I/Deficient with CNSHA
chrX:154532679 A/A A
  • Krakow - I/Deficient with CNSHA
chrX:154532688 T/T T
  • Praha - I/Deficient with CNSHA
chrX:154532692 T/T T
  • Hartford - I/Deficient with CNSHA
chrX:154532694 rs137852321 C/C C
  • Beverly Hills, Genova, Iwate, Niigata, Yamaguchi - I/Deficient with CNSHA
chrX:154532695 rs137852334 G/G G
  • Guadalajara - I/Deficient with CNSHA
  • Mt Sinai - I/Deficient with CNSHA
chrX:154532698 rs137852320 T/T T
  • Iowa, Walter Reed, Springfield - I/Deficient with CNSHA
chrX:154532699 G/G G
  • Madrid - I/Deficient with CNSHA
chrX:154532700 C/C C
  • Lynwood - I/Deficient with CNSHA
chrX:154532701 rs137852322 A/A A
  • Tomah - I/Deficient with CNSHA
chrX:154532713 A/A A
  • Olomouc - I/Deficient with CNSHA
chrX:154532715 A/A A
  • Riley - I/Deficient with CNSHA
chrX:154532716 T/T T
  • Calvo Mackenna - I/Deficient with CNSHA
chrX:154532722 rs371489738 C/C C
  • Montpellier - I/Deficient with CNSHA
chrX:154532752 CGGCCTTGC
GCTCGTTCA
G/
CGGCCTTGC
GCTCGTTCA
G
CGGCCTTGC
GCTCGTTCA
G
  • Tondela - I/Deficient with CNSHA
chrX:154532758 T/T T
  • Tenri - I/Deficient with CNSHA
chrX:154532765 rs137852329 G/G G
  • Aachen - I/Deficient with CNSHA
  • Loma Linda - I/Deficient with CNSHA
chrX:154532772 rs137852345 G/G G
  • Serres - I/Deficient with CNSHA
chrX:154532773 C/C C
  • Iwatsuki - I/Deficient with CNSHA
chrX:154532797 rs137852333 G/G G
  • Ierapetra - II/Deficient
chrX:154532802 C/C C
  • Partenope - II/Deficient
chrX:154532945 rs34193178 C/C C
  • Mira d'Aire - IV/Normal
chrX:154532956 rs398123544 T/T T
  • Cincinnati - I/Deficient with CNSHA
chrX:154532969 rs137852342 G/G G
  • Chinese-5 - III/Deficient
chrX:154532987 T/T T
  • Torun - I/Deficient with CNSHA
chrX:154532989 G/G G
  • Fushan - II/Deficient
chrX:154532990 rs5030869 C/C C
  • Chatham - II/Deficient
chrX:154533004 C/C C
  • Insuli - IV/Normal
chrX:154533012 CGTGGGGTC
GTCCAGGTA
CCCTTTG/
CGTGGGGTC
GTCCAGGTA
CCCTTTG
CGTGGGGTC
GTCCAGGTA
CCCTTTG
  • Nara - I/Deficient with CNSHA
chrX:154533016 G/G G
  • Farroupilha - II/Deficient
chrX:154533025 rs76723693 A/A A
  • A- 968C_376G - III/Deficient
chrX:154533029 rs137852347 A/A A
  • Rehevot - I/Deficient with CNSHA
chrX:154533031 C/C C
  • Manhattan - I/Deficient with CNSHA
chrX:154533044 rs137852339 C/C C
  • Kalyan-Kerala, Jamnaga, Rohini - III/Deficient
chrX:154533064 C/C C
  • Ludhiana - II/Deficient
chrX:154533072 C/C C
  • Omiya - I/Deficient with CNSHA
chrX:154533077 C/C C
  • Seoul - II/Deficient
chrX:154533083 C/C C
  • West Virginia - I/Deficient with CNSHA
chrX:154533122 rs137852327 C/C C
  • Ananindeua - II/Deficient
  • Hechi - II/Deficient
  • Viangchan, Jammu - II/Deficient
chrX:154533586 rs74575103 C/C C
  • Montalbano - III/Deficient
chrX:154533587 G/G G
  • Osaka - II/Deficient
chrX:154533589 A/A A
  • Piotrkow - I/Deficient with CNSHA
chrX:154533591 G/G G
  • Papua - Uncertain function
chrX:154533592 T/T T
  • Mizushima - II/Deficient
chrX:154533596 rs137852318 C/C C
  • Bajo Maumere - III/Deficient
  • Seattle, Lodi, Modena, Ferrara II, Athens-like - III/Deficient
chrX:154533605 T/T T
  • Chinese-1 - II/Deficient
  • Haikou - II/Deficient
chrX:154533607 G/G G
  • Wexham - I/Deficient with CNSHA
chrX:154533608 A/A A
  • La Jolla - I/Deficient with CNSHA
chrX:154533614 G/G G
  • Sugao - I/Deficient with CNSHA
chrX:154533615 C/C C
  • Bangkok - I/Deficient with CNSHA
chrX:154533619 T/T T
  • Lille - I/Deficient with CNSHA
chrX:154533620 C/C C
  • Cleveland Corum - I/Deficient with CNSHA
chrX:154533629 C/C C
  • Roubaix - II/Deficient
chrX:154533634 rs137852346 C/C C
  • Aveiro - I/Deficient with CNSHA
chrX:154534036 G/G G
  • Wayne - I/Deficient with CNSHA
chrX:154534074 TCAGTGC/
TCAGTGC
TCAGTGC
  • Stonybrook - I/Deficient with CNSHA
chrX:154534092 T/T T
  • Durham - I/Deficient with CNSHA
chrX:154534102 rs782757170 G/G G
  • Nanning - III/Deficient
chrX:154534110 C/C C
  • Asahikawa - I/Deficient with CNSHA
chrX:154534116 ATGT/ATGT ATGT
  • North Dallas - I/Deficient with CNSHA
chrX:154534125 rs137852328 C/C C
  • A- 680T_376G - III/Deficient
  • Mexico City - III/Deficient
chrX:154534126 G/G G
  • Radlowo - II/Deficient
chrX:154534157 rs137852319 A/A A
  • Harilaou - I/Deficient with CNSHA
chrX:154534345 rs137852326 C/C C
  • Cincinnati - I/Deficient with CNSHA
  • Minnesota, Marion, Gastonia, LeJeune - I/Deficient with CNSHA
chrX:154534348 rs782754619 T/T T
  • Sibari - III/Deficient
chrX:154534387 rs781865768 T/T T
  • Dagua - Uncertain function
chrX:154534389 rs137852332 C/C C
  • Nilgiri - II/Deficient
  • Santiago - I/Deficient with CNSHA
chrX:154534390 rs137852330 G/G G
  • Coimbra Shunde - II/Deficient
  • Vancouver - I/Deficient with CNSHA
chrX:154534409 G/G G
  • Pedoplis-Ckaro - I/Deficient with CNSHA
chrX:154534414 GGGA/GGGA GGGA
  • Tsukui - I/Deficient with CNSHA
chrX:154534419 rs5030868 G/G G
  • Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham - II/Deficient
chrX:154534438 rs267606836 G/G G
  • Vancouver - I/Deficient with CNSHA
chrX:154534440 rs5030872 T/T T
  • Malaga - III/Deficient
  • Santa Maria - II/Deficient
chrX:154534447 T/T T
  • Chikugo - I/Deficient with CNSHA
chrX:154534455 T/T T
  • Shinshu - I/Deficient with CNSHA
chrX:154534463 G/G G
  • Miaoli - II/Deficient
chrX:154534465 rs137852343 A/A A
  • Nankang - II/Deficient
chrX:154534468 G/G G
  • Volendam - I/Deficient with CNSHA
chrX:154534485 C/C C
  • Naone - II/Deficient
chrX:154534486 G/G G
  • Toledo - II/Deficient
chrX:154534489 rs137852331 T/T T
  • Taipei, Chinese-3 - II/Deficient
chrX:154534494 C/C C
  • Plymouth - I/Deficient with CNSHA
chrX:154534495 rs137852314 C/C C
  • Mahidol - III/Deficient
chrX:154535176 rs370918918 C/C C
  • Gond - Uncertain function
chrX:154535180 rs782487723 C/C C
  • Shenzen - II/Deficient
chrX:154535187 rs137852313 C/C C
  • Ilesha - III/Deficient
chrX:154535190 G/G G
  • Acrokorinthos - II/Deficient
chrX:154535211 C/C C
  • Liuzhou - II/Deficient
chrX:154535244 G/G G
  • Belem - II/Deficient
chrX:154535247 G/G G
  • Valladolid - II/Deficient
chrX:154535249 rs782322505 T/T T
  • Cairo - II/Deficient
chrX:154535261 C/C C
  • Quing Yan - III/Deficient
chrX:154535269 G/G G
  • Crispim - II/Deficient
chrX:154535270 rs78365220 A/A A
  • Crispim - II/Deficient
  • Salerno Pyrgos - III/Deficient
  • Vanua Lava - II/Deficient
chrX:154535274 C/C C
  • Crispim - II/Deficient
chrX:154535277 rs1050829 T/T T
  • 202G>A_376A>G_1264C>G - I/Deficient with CNSHA
  • A - IV/Normal
  • A- 202A_376G - III/Deficient
  • A- 680T_376G - III/Deficient
  • A- 968C_376G - III/Deficient
  • Acrokorinthos - II/Deficient
  • Ananindeua - II/Deficient
  • Mt Sinai - I/Deficient with CNSHA
  • Santa Maria - II/Deficient
  • Sierra Leone - III/Deficient
chrX:154535278 C/C C
  • Crispim - II/Deficient
chrX:154535301 A/A A
  • Bao Loc - II/Deficient
chrX:154535316 rs5030870 C/C C
  • Sao Borja - IV/Normal
chrX:154535330 A/A A
  • Hammersmith - III/Deficient
chrX:154535336 rs267606835 G/G G
  • Vancouver - I/Deficient with CNSHA
chrX:154535342 rs181277621 C/C C
  • Sierra Leone - III/Deficient
chrX:154535367 GCTT/GCTT GCTT
  • Urayasu - I/Deficient with CNSHA
chrX:154535379 G/G G
  • Guangzhou - III/Deficient
chrX:154535962 rs782308266 C/C C
  • Lagosanto - III/Deficient
chrX:154535963 rs138687036 G/G G
  • Ube Konan - III/Deficient
chrX:154535980 A/A A
  • Swansea - I/Deficient with CNSHA
chrX:154535995 rs782090947 T/T T
  • Murcia Oristano - III/Deficient
chrX:154535996 rs137852349 A/A A
  • Namouru - II/Deficient
chrX:154536002 rs1050828 C/C C
  • 202G>A_376A>G_1264C>G - I/Deficient with CNSHA
  • A- 202A_376G - III/Deficient
  • Asahi - III/Deficient
  • Hechi - II/Deficient
chrX:154536008 A/A A
  • Songklanagarind - II/Deficient
chrX:154536019 G/G G
  • Amazonia - II/Deficient
  • Musashino - III/Deficient
chrX:154536021 CAGA/CAGA CAGA
  • Amsterdam - I/Deficient with CNSHA
chrX:154536025 A/A A
  • Costanzo - II/Deficient
chrX:154536032 rs137852315 C/C C
  • Metaponto - III/Deficient
chrX:154536034 C/C C
  • Palestrina - III/Deficient
chrX:154536035 G/G G
  • Kamogawa - II/Deficient
chrX:154536045 C/C C
  • Kozukata - I/Deficient with CNSHA
chrX:154536151 G/G G
  • Kambos - III/Deficient
chrX:154536156 rs76645461 A/A A
  • Aures - III/Deficient
chrX:154536168 rs78478128 G/G G
  • Orissa - III/Deficient
chrX:154536169 C/C C
  • Rignano - III/Deficient
chrX:154546045 rs137852338 CATG/CATG CATG
  • Sunderland - I/Deficient with CNSHA
chrX:154546046 A/A A
  • Gidra - Uncertain function
chrX:154546057 T/T T
  • Honiara - I/Deficient with CNSHA
chrX:154546061 rs137852340 T/T T
  • Gaohe - III/Deficient
chrX:154546116 C/C C
  • Lages - III/Deficient
chrX:154546122 C/C C
  • Sinnai - III/Deficient
chrX:154546131 G/G G
  • No name - I/Deficient with CNSHA

HLA-B allele match data

Genotype Reported: *15:02/*57:01
This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source.

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 and Function Warnings
chr19:39248147 rs12979860 C/C C
  • rs12979860 variant (T) - Unassigned function

MT-RNR1 allele match data

Genotype Reported: 1555A>G
This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source.

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.

The NUDT15 *1 allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr13:48037748 rs769369441 T/T T
  • *10 - Unassigned function
chr13:48037749 G/G G
  • *19 - Unassigned function
chr13:48037782 rs746071566 AGGAGTC/
AGGAGTC
AGGAGTC
  • *2 - No function
  • *6 - Uncertain function
  • *9 - No function
chr13:48037798 rs186364861 G/G G
  • *5 - Uncertain function
chr13:48037825 rs777311140 C/C C
  • *14 - Unassigned function
chr13:48037834 rs1202487323 C/C C
  • *16 - Unassigned function
chr13:48037847 rs766023281 G/G G
  • *7 - Uncertain function
chr13:48037849 A/A A
  • *8 - Uncertain function
chr13:48037885 rs1950545307 G/G G
  • *11 - Unassigned function
chr13:48037902 rs149436418 C/C C
  • *12 - Unassigned function
chr13:48040977 rs1457579126 GA/GA GA
  • *18 - Unassigned function
chr13:48041103 rs761191455 T/T T
  • *13 - Unassigned function
chr13:48041113 rs1368252918 G/G G
  • *17 - Unassigned function
chr13:48045690 rs768324690 C/C C
  • *20 - Unassigned function
chr13:48045719 rs116855232 C/C C
  • *2 - No function
  • *3 - No function
chr13:48045720 rs147390019 G/G G
  • *4 - Uncertain function
chr13:48045771 rs139551410 T/T T
  • *15 - Unassigned function

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.

If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
The RYR1 Reference allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr19:38433867 rs193922744 T/T T
  • c.38T>G - Malignant Hyperthermia associated
chr19:38440747 rs193922745 CGAT/CGAT CGAT
  • c.51_53del - Uncertain function
chr19:38440796 rs193922746 A/A A
  • c.97A>G - Malignant Hyperthermia associated
chr19:38440802 rs193922747 T/T T
  • c.103T>C - Malignant Hyperthermia associated
chr19:38440818 G/G G
  • c.119G>C - Uncertain function
chr19:38440829 rs193922748 C/C C
  • c.130C>T - Malignant Hyperthermia associated
chr19:38440830 rs139161723 G/G G
  • c.131G>A - Uncertain function
chr19:38440851 rs193922749 C/C C
  • c.152C>A - Uncertain function
chr19:38442361 rs118192160 G/G G
  • c.178G>A - Uncertain function
  • c.178G>T - Uncertain function
chr19:38442373 rs995399438 T/T T
  • c.190T>C - Uncertain function
chr19:38442395 rs118192113 C/C C
  • c.212C>A - Uncertain function
chr19:38442434 rs186983396 C/C C
  • c.251C>T - Uncertain function
chr19:38443790 rs142474192 G/G G
  • c.418G>A - Normal function
chr19:38444179 C/C C
  • c.455C>A - Uncertain function
chr19:38444187 rs193922750 C/C C
  • c.463C>A - Malignant Hyperthermia associated
chr19:38444191 rs193922751 G/G G
  • c.467G>A - Uncertain function
chr19:38444203 rs193922752 A/A A
  • c.479A>G - Uncertain function
chr19:38444211 rs118192161 C/C C
  • c.487C>T - Malignant Hyperthermia associated
chr19:38444212 rs193922753 G/G G
  • c.488G>A - Uncertain function
  • c.488G>T - Malignant Hyperthermia associated
chr19:38444217 rs193922754 G/G G
  • c.493G>A - Uncertain function
chr19:38444220 rs193922755 G/G G
  • c.496G>A - Uncertain function
chr19:38444221 rs193922756 A/A A
  • c.497A>G - Uncertain function
chr19:38444250 rs761616815 G/G G
  • c.526G>A - Uncertain function
chr19:38444252 G/G G
  • c.528G>T - Uncertain function
chr19:38444253 rs193922757 C/C C
  • c.529C>T - Malignant Hyperthermia associated
chr19:38444257 A/A A
  • c.533A>C - Uncertain function
  • c.533A>G - Malignant Hyperthermia associated
chr19:38444671 rs771058055 G/G G
  • c.625G>A - Uncertain function
chr19:38446481 rs727504129 C/C C
  • c.641C>T - Uncertain function
chr19:38446492 rs193922759 G/G G
  • c.652G>A - Uncertain function
chr19:38446517 rs112596687 T/T T
  • c.677T>A - Uncertain function
chr19:38446520 rs193922760 A/A A
  • c.680A>T - Uncertain function
chr19:38446710 rs1801086 G/G G
  • c.742G>A - Malignant Hyperthermia associated
  • c.742G>C - Malignant Hyperthermia associated
chr19:38448500 rs752652072 C/C C
  • c.946C>T - Uncertain function
chr19:38448501 rs193922761 G/G G
  • c.947G>T - Uncertain function
chr19:38448673 rs193922762 C/C C
  • c.982C>T - Malignant Hyperthermia associated
chr19:38448680 T/T T
  • c.992_994dup - Uncertain function
chr19:38448712 rs121918592 G/G G
  • c.1021G>A - Malignant Hyperthermia associated
  • c.1021G>C - Malignant Hyperthermia associated
chr19:38448715 G/G G
  • c.1024G>A - Uncertain function
chr19:38448791 rs113332073 G/G G
  • c.1100G>A - Uncertain function
  • c.1100G>T - Uncertain function
chr19:38451785 C/C C
  • c.1144C>A - Uncertain function
chr19:38451842 rs193922764 C/C C
  • c.1201C>A - Uncertain function
  • c.1201C>G - Uncertain function
  • c.1201C>T - Malignant Hyperthermia associated
chr19:38451843 rs193922766 G/G G
  • c.1202G>A - Malignant Hyperthermia associated
  • c.1202G>T - Malignant Hyperthermia associated
chr19:38451850 rs118192116 C/C C
  • c.1209C>G - Uncertain function
chr19:38452985 C/C C
  • c.1411C>T - Uncertain function
chr19:38452996 rs193922767 G/G G
  • c.1422G>T - Uncertain function
chr19:38455247 rs147723844 A/A A
  • c.1453A>G - Uncertain function
chr19:38455253 C/C C
  • c.1459C>G - Uncertain function
chr19:38455254 T/T T
  • c.1460T>C - Uncertain function
chr19:38455269 rs901087791 G/G G
  • c.1475G>A - Uncertain function
chr19:38455347 T/T T
  • c.1553T>C - Uncertain function
chr19:38455359 rs118192162 A/A A
  • c.1565A>C - Malignant Hyperthermia associated
  • c.1565A>G - Malignant Hyperthermia associated
chr19:38455463 rs111888148 G/G G
  • c.1589G>A - Malignant Hyperthermia associated
chr19:38455471 rs193922768 C/C C
  • c.1597C>A - Uncertain function
  • c.1597C>T - Malignant Hyperthermia associated
chr19:38455472 rs144336148 G/G G
  • c.1598G>A - Uncertain function
chr19:38455489 rs193922769 T/T T
  • c.1615T>C - Malignant Hyperthermia associated
  • c.1615T>G - Malignant Hyperthermia associated
chr19:38455504 G/G G
  • c.1630G>T - Malignant Hyperthermia associated
chr19:38455528 rs193922770 C/C C
  • c.1654C>T - Malignant Hyperthermia associated
chr19:38457539 rs118204423 G/G G
  • c.1834G>C - Uncertain function
chr19:38457545 rs118192172 C/C C
  • c.1840C>T - Malignant Hyperthermia associated
chr19:38457546 rs193922772 G/G G
  • c.1841G>T - Malignant Hyperthermia associated
chr19:38458175 rs747177274 G/G G
  • c.2050G>C - Uncertain function
chr19:38458247 rs138874610 G/G G
  • c.2122G>A - Uncertain function
chr19:38460461 rs376149732 C/C C
  • c.2447C>T - Normal function
chr19:38460551 rs193922775 C/C C
  • c.2537C>T - Uncertain function
chr19:38463499 rs370634440 G/G G
  • c.2654G>A - Uncertain function
chr19:38464649 rs148623597 G/G G
  • c.2797G>A - Normal function
chr19:38466144 rs778241277 G/G G
  • c.2924G>A - Uncertain function
chr19:38466216 rs180714609 G/G G
  • c.2996G>A - Uncertain function
chr19:38466315 rs141942845 G/G G
  • c.3095G>A - Uncertain function
chr19:38466347 rs111272095 C/C C
  • c.3127C>T - Uncertain function
chr19:38466386 rs2145447772 G/G G
  • c.3166G>A - Uncertain function
  • c.3166G>C - Malignant Hyperthermia associated
chr19:38466392 G/G G
  • c.3172G>A - Uncertain function
chr19:38467655 rs749040743 G/G G
  • c.3224G>A - Normal function
chr19:38469002 rs193922776 C/C C
  • c.3418C>T - Uncertain function
chr19:38469111 rs549201486 C/C C
  • c.3527C>T - Uncertain function
chr19:38469404 A/A A
  • c.3656A>C - Uncertain function
chr19:38469415 rs936513262 G/G G
  • c.3667G>A - Uncertain function
chr19:38473635 rs34694816 A/A A
  • c.4024A>G - Normal function
chr19:38475335 rs137933390 A/A A
  • c.4178A>G - Normal function
chr19:38477816 rs145573319 A/A A
  • c.4400A>G - Uncertain function
chr19:38483293 rs146429605 A/A A
  • c.4711A>G - Normal function
chr19:38483329 rs754476250 C/C C
  • c.4747C>T - Uncertain function
chr19:38483345 rs151029675 C/C C
  • c.4763C>T - Uncertain function
chr19:38483357 rs193922777 C/C C
  • c.4775C>T - Uncertain function
chr19:38485679 T/T T
  • c.5024T>C - Uncertain function
chr19:38485688 rs781104539 A/A A
  • c.5033A>G - Uncertain function
chr19:38485691 rs146504767 G/G G
  • c.5036G>A - Normal function
chr19:38485787 rs754785770 A/A A
  • c.5132A>G - Uncertain function
chr19:38485838 rs193922781 C/C C
  • c.5183C>T - Malignant Hyperthermia associated
chr19:38485841 rs193922782 T/T T
  • c.5186T>G - Uncertain function
chr19:38485972 rs192863857 C/C C
  • c.5317C>T - Normal function
chr19:38485996 rs372958050 T/T T
  • c.5341T>C - Uncertain function
chr19:38486015 rs34934920 C/C C
  • c.5360C>T - Normal function
chr19:38486095 A/A A
  • c.5440A>G - Uncertain function
chr19:38486096 rs193922783 T/T T
  • c.5441T>A - Uncertain function
chr19:38490151 rs145801146 C/C C
  • c.5890C>T - Uncertain function
chr19:38490642 A/A A
  • c.6037A>C - Uncertain function
chr19:38492540 rs35364374 G/G G
  • c.6178G>T - Normal function
chr19:38494379 rs746818096 T/T T
  • c.6302T>A - Uncertain function
chr19:38494381 rs770593660 G/G G
  • c.6304G>C - Uncertain function
chr19:38494426 rs193922788 G/G G
  • c.6349G>C - Malignant Hyperthermia associated
chr19:38494454 G/G G
  • c.6377G>A - Uncertain function
chr19:38494464 rs117886618 C/C C
  • c.6387C>G - Malignant Hyperthermia associated
chr19:38494465 rs193922789 G/G G
  • c.6388G>A - Uncertain function
chr19:38494555 rs143398211 G/G G
  • c.6478G>A - Uncertain function
chr19:38494564 rs118192175 C/C C
  • c.6487C>T - Malignant Hyperthermia associated
chr19:38494565 rs118192163 G/G G
  • c.6488G>A - Malignant Hyperthermia associated
  • c.6488G>C - Malignant Hyperthermia associated
  • c.6488G>T - Malignant Hyperthermia associated
chr19:38494579 rs118192176 G/G G
  • c.6502G>A - Malignant Hyperthermia associated
chr19:38494621 rs193922790 A/A A
  • c.6544A>T - Uncertain function
chr19:38494625 rs959170123 G/G G
  • c.6548G>A - Uncertain function
chr19:38496265 rs193922791 C/C C
  • c.6599C>T - Uncertain function
chr19:38496278 rs141646642 C/C C
  • c.6612C>G - Malignant Hyperthermia associated
chr19:38496283 rs118192177 C/C C
  • c.6617C>G - Malignant Hyperthermia associated
  • c.6617C>T - Malignant Hyperthermia associated
chr19:38496294 rs193922792 G/G G
  • c.6628G>T - Malignant Hyperthermia associated
chr19:38496301 rs193922793 T/T T
  • c.6635T>A - Uncertain function
chr19:38496306 rs193922795 G/G G
  • c.6640G>A - Uncertain function
chr19:38496415 rs199870223 C/C C
  • c.6670C>T - Normal function
chr19:38496416 rs537994744 G/G G
  • c.6671G>A - Uncertain function
chr19:38496455 G/G G
  • c.6710G>A - Uncertain function
chr19:38496487 rs763352221 C/C C
  • c.6742C>T - Uncertain function
chr19:38496488 rs140152019 G/G G
  • c.6743G>A - Uncertain function
chr19:38496502 rs917523269 C/C C
  • c.6757C>T - Uncertain function
chr19:38496901 rs193922797 G/G G
  • c.6838G>A - Malignant Hyperthermia associated
chr19:38496910 rs118192121 A/A A
  • c.6847A>C - Uncertain function
chr19:38499177 rs34390345 A/A A
  • c.6961A>G - Normal function
chr19:38499223 rs112563513 G/G G
  • c.7007G>A - Malignant Hyperthermia associated
chr19:38499234 T/T T
  • c.7018T>C - Uncertain function
chr19:38499241 rs147213895 A/A A
  • c.7025A>G - Normal function
chr19:38499639 rs193922798 G/G G
  • c.7032G>C - Uncertain function
chr19:38499642 C/C C
  • c.7035C>A - Malignant Hyperthermia associated
chr19:38499643 rs193922799 G/G G
  • c.7036G>A - Malignant Hyperthermia associated
chr19:38499644 rs121918596 TGGA/TGGA TGGA
  • c.7042_7044delGAG - Malignant Hyperthermia associated
chr19:38499650 rs193922801 A/A A
  • c.7043A>G - Malignant Hyperthermia associated
chr19:38499655 rs193922802 G/G G
  • c.7048G>A - Malignant Hyperthermia associated
chr19:38499667 G/G G
  • c.7060G>A - Malignant Hyperthermia associated
chr19:38499670 rs193922803 C/C C
  • c.7063C>T - Malignant Hyperthermia associated
chr19:38499680 T/T T
  • c.7073T>A - Uncertain function
chr19:38499682 rs769482889 C/C C
  • c.7075C>T - Uncertain function
chr19:38499683 G/G G
  • c.7076G>A - Malignant Hyperthermia associated
chr19:38499691 rs762401851 G/G G
  • c.7084G>A - Malignant Hyperthermia associated
chr19:38499692 rs193922804 A/A A
  • c.7085A>G - Uncertain function
chr19:38499696 C/C C
  • c.7089C>G - Uncertain function
chr19:38499697 rs193922805 T/T T
  • c.7090T>G - Malignant Hyperthermia associated
chr19:38499704 rs193922806 C/C C
  • c.7097C>G - Uncertain function
chr19:38499706 rs146306934 G/G G
  • c.7099G>A - Uncertain function
chr19:38499719 A/A A
  • c.7112A>G - Uncertain function
chr19:38499730 G/G G
  • c.7123G>A - Malignant Hyperthermia associated
chr19:38499731 rs193922807 G/G G
  • c.7124G>C - Malignant Hyperthermia associated
chr19:38499806 rs976108591 A/A A
  • c.7199A>G - Uncertain function
chr19:38499817 rs111364296 G/G G
  • c.7210G>A - Uncertain function
chr19:38499975 rs193922809 G/G G
  • c.7282G>A - Malignant Hyperthermia associated
chr19:38499984 rs193922810 G/G G
  • c.7291G>A - Malignant Hyperthermia associated
  • c.7291G>T - Malignant Hyperthermia associated
chr19:38499985 A/A A
  • c.7292A>T - Uncertain function
chr19:38499993 rs121918593 G/G G
  • c.7300G>A - Malignant Hyperthermia associated
chr19:38499997 rs28933396 G/G G
  • c.7304G>A - Malignant Hyperthermia associated
  • c.7304G>T - Malignant Hyperthermia associated
chr19:38500000 G/G G
  • c.7307G>A - Uncertain function
chr19:38500003 rs193922812 C/C C
  • c.7310C>T - Malignant Hyperthermia associated
chr19:38500010 rs193922813 G/G G
  • c.7317G>C - Uncertain function
chr19:38500636 rs118192124 C/C C
  • c.7354C>T - Malignant Hyperthermia associated
chr19:38500637 rs193922815 G/G G
  • c.7355G>A - Uncertain function
  • c.7355G>C - Uncertain function
chr19:38500640 rs118192123 T/T T
  • c.7358T>C - Malignant Hyperthermia associated
chr19:38500642 rs193922816 C/C C
  • c.7360C>T - Malignant Hyperthermia associated
chr19:38500643 rs118192122 G/G G
  • c.7361G>A - Malignant Hyperthermia associated
chr19:38500654 rs28933397 C/C C
  • c.7372C>T - Malignant Hyperthermia associated
chr19:38500655 rs121918594 G/G G
  • c.7373G>A - Malignant Hyperthermia associated
  • c.7373G>T - Malignant Hyperthermia associated
chr19:38500667 rs551223467 C/C C
  • c.7385C>T - Uncertain function
chr19:38500863 rs193922817 C/C C
  • c.7487C>T - Uncertain function
chr19:38500898 rs118192178 C/C C
  • c.7522C>G - Uncertain function
  • c.7522C>T - Malignant Hyperthermia associated
chr19:38500899 rs193922818 G/G G
  • c.7523G>A - Malignant Hyperthermia associated
chr19:38500904 rs193922819 T/T T
  • c.7528T>C - Uncertain function