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: 19 / 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/*6 One Decreased function allele and one Normal function allele Intermediate Metabolizer
CYP2C19
*2/*2 Two No function alleles Poor Metabolizer
CYP2C9
*1/*1 Two 1.0 (Normal function) alleles Normal 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
IFNL3/4
rs12979860 reference (C)/rs12979860 reference (C) Two Favorable response allele alleles n/a
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

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

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

amitriptyline

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Alternate Drug
Dosing Info
Genotype
  • CYP2C19:*2/*2;
    CYP2D6:Not called - no variant data provided
  • CYP2C19: Greatly reduced metabolism of tertiary amines compared to normal metabolizers; Decreased conversion of tertiary amines to secondary amines may affect response or side effects
  • CYP2D6: n/a
Avoid tertiary amine use due to potential for sub-optimal response. Consider alternative drug not metabolized by CYP2C19. TCAs without major CYP2C19 metabolism include the secondary amines nortriptyline and desipramine. For tertiary amines, consider a 50% reduction of the recommended starting dose. Utilize therapeutic drug monitoring to guide dose adjustments. Titrate dose to observed clinical response with symptom improvement and minimal (if any) side effects.

Other Considerations

Dosing recommendations only apply to higher initial doses of TCAs for treatment of conditions such as depression. Titrate dose to observed clinical response with symptom improvement and minimal (if any) side effects. 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.
Moderate

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:

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

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

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

Alternate Drug
Dosing Info
Genotype
CYP2C19: Reduced metabolism of citalopram and escitalopram to less active compounds when compared to CYP2C19 normal and intermediate metabolizers. Higher plasma concentrations may increase the probability of side effects. Consider a clinically appropriate antidepressant not predominantly metabolized by CYP2C19. If citalopram or escitalopram are clinically appropriate, consider a lower starting dose, slower titration schedule and 50% reduction of the standard maintenance dose as compared to normal metabolizers.

Other Considerations

Per the FDA warning, citalopram 20 mg/day is the maximum recommended dose in CYP2C19 poor metabolizers due to the risk of QT prolongation. FDA product labeling additionally cautions that citalopram dose should be limited to 20 mg/day in patients with hepatic impairment, those taking a CYP2C19 inhibitor, and patients greater than 60 years of age.
Strong

PharmGKB-DPWG 1

Population:
Unspecified

Dosing Info
Genotype
The risk of QT prolongation and therefore also the theoretical risk of torsades de pointes is increased as the gene variation leads to an increased citalopram plasma concentration. If you follow the dose recommendation below, the increased plasma concentration and the increased risk of QT prolongation will be offset. Do not exceed the following daily doses (50% of the standard maximum dose):
  1. adults up to 65 years: 20mg as tablets or 16mg as drops,
  2. Adults 65 years or older: 10mg as tablets or 8mg as drops
N/A

clomipramine

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Alternate Drug
Dosing Info
Genotype
  • CYP2C19:*2/*2;
    CYP2D6:Not called - no variant data provided
  • CYP2C19: Greatly reduced metabolism of tertiary amines compared to normal metabolizers; Decreased conversion of tertiary amines to secondary amines may affect response or side effects
  • CYP2D6: n/a
Avoid tertiary amine use due to potential for sub-optimal response. Consider alternative drug not metabolized by CYP2C19. TCAs without major CYP2C19 metabolism include the secondary amines nortriptyline and desipramine. For tertiary amines, consider a 50% reduction of the recommended starting dose. Utilize therapeutic drug monitoring to guide dose adjustments. Titrate dose to observed clinical response with symptom improvement and minimal (if any) side effects.

Other Considerations

Dosing recommendations only apply to higher initial doses of TCAs for treatment of conditions such as depression. Titrate dose to observed clinical response with symptom improvement and minimal (if any) side effects. 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.
Optional

PharmGKB-DPWG 1, 2

Population:
Unspecified

No Action
Genotype
The gene variation increases the plasma concentration of clomipramine. However, there is insufficient evidence to substantiate an increase of the plasma concentration of clomipramine+desmethylclomipramine to such an extent that it increases the risk of side effects. The increase in the plasma concentration of clomipramine is favourable for the efficacy in anxiety and obsessive compulsive disorder. NO action is required for this gene-drug interaction. N/A

clopidogrel

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
CVI ACS PCI

Alternate Drug
Genotype
CYP2C19: Significantly reduced clopidogrel active metabolite formation; increased on-treatment platelet reactivity; increased risk for adverse cardiac and cerebrovascular events Avoid clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication.

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

Alternate Drug
Genotype
CYP2C19: Significantly reduced clopidogrel active metabolite formation; increased on-treatment platelet reactivity; increased risk for adverse cardiac and cerebrovascular events Avoid clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication.

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.
Moderate

CPIC 1

Population:
NVI

Alternate Drug
Genotype
CYP2C19: Significantly reduced clopidogrel active metabolite formation; increased on-treatment platelet reactivity; increased risk for adverse cardiac and cerebrovascular events Avoid clopidogrel if possible. Consider an alternative P2Y12 inhibitor at standard dose if clinically indicated and no contraindication.

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. Alternative P2Y12 inhibitors not impacted by CYP2C19 genetic variants include ticagrelor and ticlopidine. Prasugrel is contraindicated in patients with a history of stroke or TIA. Given limited outcomes data for genotype-guided anti-platelet therapy for neurovascular indications, selection of therapy should depend on individual patient treatment goals and risks for adverse events.
Moderate

PharmGKB-DPWG 1

Population:
Unspecified

Alternate Drug
Genotype
The risk of serious cardiovascular and cerebrovascular events is increased in patients undergoing balloon angioplasty or stent placement (percutaneous coronary intervention) and in patients with a stroke or TIA, because the genetic variation reduces the activation of clopidogrel. No negative clinical consequences have been proved in other patients. PERCUTANEOUS CORONARY INTERVENTION, STROKE or TIA: avoid clopidogrel. Prasugrel, ticagrelor and acetylsalicylic acid/dipyridamole are not metabolised by CYP2C19 (or to a lesser extent). OTHER INDICATIONS: determine the level of inhibition of platelet aggregation by clopidogrel. Consider an alternative in poor responders. Prasugrel and ticagrelor are not metabolised by CYP2C19 (or to a lesser extent). 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

dexlansoprazole

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Dosing Info
Genotype
CYP2C19: Increased plasma concentration of PPI compared to CYP2C19 NMs; increased chance of efficacy and potentially toxicity Initiate standard starting daily dose. For chronic therapy (>12 weeks) and efficacy achieved, consider 50% reduction in daily dose and monitor for continued efficacy. Optional

doxepin

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Alternate Drug
Dosing Info
Genotype
  • CYP2C19:*2/*2;
    CYP2D6:Not called - no variant data provided
  • CYP2C19: Greatly reduced metabolism of tertiary amines compared to normal metabolizers; Decreased conversion of tertiary amines to secondary amines may affect response or side effects
  • CYP2D6: n/a
Avoid tertiary amine use due to potential for sub-optimal response. Consider alternative drug not metabolized by CYP2C19. TCAs without major CYP2C19 metabolism include the secondary amines nortriptyline and desipramine. For tertiary amines, consider a 50% reduction of the recommended starting dose. Utilize therapeutic drug monitoring to guide dose adjustments. Titrate dose to observed clinical response with symptom improvement and minimal (if any) side effects.

Other Considerations

Dosing recommendations only apply to higher initial doses of TCAs for treatment of conditions such as depression. Titrate dose to observed clinical response with symptom improvement and minimal (if any) side effects. 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.
Optional

efavirenz

The assigned genotype is *1/*6; however, *4/*9 cannot be ruled out without phased data.
Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
child >40kg_adult

Dosing Info
Genotype
CYP2B6: Higher dose-adjusted trough concentrations of efavirenz compared with normal metabolizers; increased risk of CNS adverse events Consider initiating efavirenz with decreased dose of 400 mg/day

Other Considerations

If therapeutic drug monitoring is available and a decreased efavirenz dose is prescribed, consider obtaining steady-state plasma efavirenz concentrations to ensure concentrations are in the suggested therapeutic range (~1 to 4 μg/mL). To prescribe efavirenz at a decreased dose of 400 mg/day or 200 mg/day in a multidrug regimen may require prescribing more than one pill once daily. If so, the provider should weigh the potential benefit of reduced dose against the potential detrimental impact of increased pill number.
Moderate

PharmGKB-DPWG 1

Population:
Unspecified

Dosing Info
Genotype
Genetic variations increase the efavirenz plasma concentration and therefore the risk of side effects. However, the efavirenz plasma concentration remains within the therapeutic range for the majority of patients. Determine the efavirenz plasma concentration if side effects occur and reduce the dose if needed. In 14 IM adults, a dose reduction to 400 mg/day (2/3rd of the standard dose) was sufficient to achieve therapeutic plasma concentrations and to reduce or resolve side effects. The therapeutic range established for efavirenz is 1000-4000 ng/ml. 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

Alternate Drug
Dosing Info
Genotype
CYP2C19: Reduced metabolism of citalopram and escitalopram to less active compounds when compared to CYP2C19 normal and intermediate metabolizers. Higher plasma concentrations may increase the probability of side effects. Consider a clinically appropriate antidepressant not predominantly metabolized by CYP2C19. If citalopram or escitalopram are clinically appropriate, consider a lower starting dose, slower titration schedule and 50% reduction of the standard maintenance dose as compared to normal metabolizers.

Other Considerations

Per the FDA warning, citalopram 20 mg/day is the maximum recommended dose in CYP2C19 poor metabolizers due to the risk of QT prolongation. FDA product labeling additionally cautions that citalopram dose should be limited to 20 mg/day in patients with hepatic impairment, those taking a CYP2C19 inhibitor, and patients greater than 60 years of age.
Strong

PharmGKB-DPWG 1

Population:
Unspecified

Dosing Info
Genotype
The risk of switching to another antidepressant is increased. In addition, the risk of QT prolongation and torsades de pointes is theoretically increased because the gene variation leads to an increased escitalopram plasma concentration. If you follow the dose recommendation below, the increased plasma concentration, the theoretically increased risk of QT prolongation and the increased risk of switching to another antidepressant will be offset. Do not exceed the following doses (50% of the standard maximum dose): adults < 65 years 10 mg/day, =65 years 5 mg/day 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

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

No Action
Genotype
  • CYP2C9:*1/*1;
    HLA-B:Not called - no variant data provided
  • CYP2C9: Normal phenytoin metabolism
  • HLA-B: n/a
No adjustments needed from typical dosing strategies. Subsequent doses should be adjusted according to therapeutic drug monitoring, response, and side effects. An HLA-B*15:02 negative test does not eliminate the risk of phenytoin-induced SJS/TEN and patients should be carefully monitored according to a usual standard. Strong

CPIC 1

Population:
PHT use >3mos

No Action
Genotype
  • CYP2C9:*1/*1;
    HLA-B:Not called - no variant data provided
  • CYP2C9: Normal phenytoin metabolism
  • HLA-B: n/a
No adjustments needed from typical dosing strategies. Subsequent doses should be adjusted according to therapeutic drug monitoring, response, and side effects. An HLA-B*15:02 negative test does not eliminate the risk of phenytoin-induced SJS/TEN and patients should be carefully monitored according to a usual standard. Strong

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:

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

Alternate Drug
Dosing Info
Genotype
  • CYP2C19:*2/*2;
    CYP2D6:Not called - no variant data provided
  • CYP2C19: Greatly reduced metabolism of tertiary amines compared to normal metabolizers; Decreased conversion of tertiary amines to secondary amines may affect response or side effects
  • CYP2D6: n/a
Avoid tertiary amine use due to potential for sub-optimal response. Consider alternative drug not metabolized by CYP2C19. TCAs without major CYP2C19 metabolism include the secondary amines nortriptyline and desipramine. For tertiary amines, consider a 50% reduction of the recommended starting dose. Utilize therapeutic drug monitoring to guide dose adjustments. Titrate dose to observed clinical response with symptom improvement and minimal (if any) side effects.

Other Considerations

Dosing recommendations only apply to higher initial doses of TCAs for treatment of conditions such as depression. Titrate dose to observed clinical response with symptom improvement and minimal (if any) side effects. 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.
Optional

PharmGKB-DPWG 1, 2

Population:
Unspecified

Dosing Info
Genotype
The risk of side effects is increased. The gene variation results in an increase in the plasma concentration of imipramine+desipramine. Use 70% of the standard dose and monitor the effect and side effects or the imipramine and desipramine plasma concentrations to determine the maintenance dose, or, avoid imipramine. Antidepressants that are not or to a lesser extent metabolised by CYP2C19 include, for example, nortriptyline, fluvoxamine and mirtazapine. 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

lansoprazole

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Dosing Info
Genotype
CYP2C19: Increased plasma concentration of PPI compared to CYP2C19 NMs; increased chance of efficacy and potentially toxicity Initiate standard starting daily dose. For chronic therapy (>12 weeks) and efficacy achieved, consider 50% reduction in daily dose and monitor for continued efficacy. Moderate

PharmGKB-DPWG 1

Population:
Unspecified

No Action
Genotype
The higher plasma concentration of lansoprazole results in an increase in the therapeutic effectiveness, without an increase in the incidence of side effects. NO action is needed for this gene-drug interaction. N/A

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

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

omeprazole

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Dosing Info
Genotype
CYP2C19: Increased plasma concentration of PPI compared to CYP2C19 NMs; increased chance of efficacy and potentially toxicity Initiate standard starting daily dose. For chronic therapy (>12 weeks) and efficacy achieved, consider 50% reduction in daily dose and monitor for continued efficacy. Moderate

PharmGKB-DPWG 1

Population:
Unspecified

No Action
Genotype
The higher plasma concentration of omeprazole results in an increase in the therapeutic effectiveness, without an increase in the side effects. NO action is required for this gene-drug interaction. N/A

Citations:

pantoprazole

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Dosing Info
Genotype
CYP2C19: Increased plasma concentration of PPI compared to CYP2C19 NMs; increased chance of efficacy and potentially toxicity Initiate standard starting daily dose. For chronic therapy (>12 weeks) and efficacy achieved, consider 50% reduction in daily dose and monitor for continued efficacy. Moderate

PharmGKB-DPWG 1

Population:
Unspecified

No Action
Genotype
The higher plasma concentration of pantoprazole results in an increase in the therapeutic effectiveness, without an increase in the side effects. NO action is required for this gene-drug interaction. N/A

Citations:

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

No Action
Genotype
  • CYP2C9:*1/*1;
    HLA-B:Not called - no variant data provided
  • CYP2C9: Normal phenytoin metabolism
  • HLA-B: n/a
No adjustments needed from typical dosing strategies. Subsequent doses should be adjusted according to therapeutic drug monitoring, response, and side effects. An HLA-B*15:02 negative test does not eliminate the risk of phenytoin-induced SJS/TEN and patients should be carefully monitored according to a usual standard. Strong

CPIC 1

Population:
PHT use >3mos

No Action
Genotype
  • CYP2C9:*1/*1;
    HLA-B:Not called - no variant data provided
  • CYP2C9: Normal phenytoin metabolism
  • HLA-B: n/a
No adjustments needed from typical dosing strategies. Subsequent doses should be adjusted according to therapeutic drug monitoring, response, and side effects. An HLA-B*15:02 negative test does not eliminate the risk of phenytoin-induced SJS/TEN and patients should be carefully monitored according to a usual standard. 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 phenytoin. The guideline does not provide a recommendation for phenytoin in normal metabolizers. No recommendation

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

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

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.

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

Alternate Drug
Dosing Info
Genotype
  • CYP2B6: Reduced metabolism of sertraline to less active compounds when compared to CYP2B6 normal metabolizers.
  • CYP2C19: Greatly reduced metabolism of sertraline to less active compounds when compared to CYP2C19 normal metabolizers. Higher plasma concentrations may increase the probability of side effects.
Consider a lower starting dose, slower titration schedule and 50% reduction of standard maintenance dose as compared to CYP2C19 normal metabolizers or select a clinically appropriate alternative antidepressant not predominantly metabolized by CYP2C19. Moderate

PharmGKB-DPWG 1

Population:
Unspecified

Dosing Info
Genotype
The risk of side effects is increased. The gene variation leads to increased plasma concentrations of sertraline. Do not give doses exceeding 75 mg/day. Guide the dose by response and side effects and/or sertraline plasma concentration. N/A

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

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

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

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

trimipramine

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
general

Alternate Drug
Dosing Info
Genotype
  • CYP2C19:*2/*2;
    CYP2D6:Not called - no variant data provided
  • CYP2C19: Greatly reduced metabolism of tertiary amines compared to normal metabolizers; Decreased conversion of tertiary amines to secondary amines may affect response or side effects
  • CYP2D6: n/a
Avoid tertiary amine use due to potential for sub-optimal response. Consider alternative drug not metabolized by CYP2C19. TCAs without major CYP2C19 metabolism include the secondary amines nortriptyline and desipramine. For tertiary amines, consider a 50% reduction of the recommended starting dose. Utilize therapeutic drug monitoring to guide dose adjustments. Titrate dose to observed clinical response with symptom improvement and minimal (if any) side effects.

Other Considerations

Dosing recommendations only apply to higher initial doses of TCAs for treatment of conditions such as depression. Titrate dose to observed clinical response with symptom improvement and minimal (if any) side effects. 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.
Optional

voriconazole

Guideline Genes Implications Recommendation Classification

CPIC 1

Population:
adults

Alternate Drug
Dosing Info
Genotype
CYP2C19: Higher dose-adjusted trough concentrations of voriconazole and may increase probability of adverse events Choose an alternative agent that is not dependent on CYP2C19 metabolism as primary therapy in lieu of voriconazole. Such agents include isavuconazole, liposomal amphotericin B, and posaconazole. In the event that voriconazole is considered to be the most appropriate agent, based on clinical advice, for a patient with poor metabolizer genotype, voriconazole should be administered at a preferably lower than standard dosage with careful therapeutic drug monitoring.

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.
Moderate

CPIC 1

Population:
pediatrics

Alternate Drug
Dosing Info
Genotype
CYP2C19: Higher dose-adjusted trough concentrations of voriconazole and may increase probability of adverse events Choose an alternative agent that is not dependent on CYP2C19 metabolism as primary therapy in lieu of voriconazole. Such agents include liposomal amphotericin B and posaconazole. In the event that voriconazole is considered to be the most appropriate agent, based on clinical advice, for a patient with poor metabolizer genotype, voriconazole should be administered at a preferably lower than standard dosage with careful therapeutic drug monitoring.

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. Recommendation based upon data extrapolated from adults.
Moderate

PharmGKB-DPWG 1

Population:
Unspecified

Dosing Info
Genotype
The gene variation can reduce the conversion of voriconazole and consequently increase the plasma concentration. This could result in improved efficacy or an increase in the risk of side effects. Initially, the risk of side effects is of particular interest. Use 50% of the standard dose and monitor the plasma concentration. N/A

Citations:

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

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. CYP3A4 allele match data
  8. CYP3A5 allele match data
  9. CYP4F2 allele match data
  10. DPYD allele match data
  11. F5 allele match data
  12. G6PD allele match data
  13. IFNL3/4 allele match data
  14. NUDT15 allele match data
  15. RYR1 allele match data
  16. SLCO1B1 allele match data
  17. TPMT allele match data
  18. UGT1A1 allele match data
  19. VKORC1 allele match data

No data provided for CYP2D6, HLA-A, HLA-B, MT-RNR1.

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/*6
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 assigned genotype is *1/*6; however, *4/*9 cannot be ruled out without phased data.
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/T 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/G 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: *2/*2
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
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 G/G 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 A/A 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 G/G 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

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

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

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
chr19:38502652 rs767553612 A/A A
  • c.7760A>G - Uncertain function
chr19:38502663 rs193922822 C/C C
  • c.7771C>G - Uncertain function
  • c.7771C>T - Uncertain function
chr19:38502669 C/C C
  • c.7777C>G - Uncertain function
chr19:38502670 rs751180702 G/G G
  • c.7778G>A - Uncertain function
chr19:38502679 rs193922824 C/C C
  • c.7787C>T - Uncertain function
chr19:38502708 rs748575133 T/T T
  • c.7816T>A - Normal function
chr19:38502923 rs914804033 G/G G
  • c.7879G>A - Uncertain function
  • c.7879G>C - Malignant Hyperthermia associated
chr19:38504298 G/G G
  • c.8005G>A - Uncertain function
chr19:38504319 rs193922826 C/C C
  • c.8026C>T - Malignant Hyperthermia associated
chr19:38504347 rs781126470 C/C C
  • c.8054C>T - Uncertain function
chr19:38504868 rs193922827 G/G G
  • c.8188G>C - Uncertain function
chr19:38504869 rs112196644 A/A A
  • c.8189A>G - Uncertain function
chr19:38504878 rs193922828 G/G G
  • c.8198G>A - Uncertain function
chr19:38505061 rs193922829 G/G G
  • c.8290G>A - Uncertain function
chr19:38505325 rs147707463 C/C C
  • c.8327C>T - Normal function
chr19:38505358 rs35180584 C/C C
  • c.8360C>G - Normal function
chr19:38505923 rs193922830 C/C C
  • c.8518C>T - Uncertain function
chr19:38505932 rs768535909 T/T T
  • c.8527T>C - Uncertain function
chr19:38506361 rs193922831 T/T T
  • c.8600T>A - Uncertain function
chr19:38506492 rs112772310 G/G G
  • c.8638G>A - Uncertain function
chr19:38506508 C/C C
  • c.8654C>G - Uncertain function
chr19:38506865 C/C C
  • c.8729C>T - Uncertain function
chr19:38507821 C/C C
  • c.8926C>T - Uncertain function
chr19:38511590 rs147303895 G/G G
  • c.9152G>A - Uncertain function
chr19:38512279 G/G G
  • c.9268G>A - Uncertain function
chr19:38512321 rs193922832 G/G G
  • c.9310G>A - Malignant Hyperthermia associated
chr19:38512367 rs193922833 G/G G
  • c.9356G>A - Uncertain function
chr19:38515052 C/C C
  • c.9499C>T - Uncertain function
chr19:38516167 rs199738299 A/A A
  • c.9635A>G - Uncertain function
chr19:38516181 T/T T
  • c.9649T>C - Uncertain function
chr19:38516184 rs553055844 G/G G
  • c.9652G>A - Uncertain function
chr19:38516208 G/G G
  • c.9676G>C - Uncertain function
chr19:38517431 rs375626634 T/T T
  • c.9758T>C - Uncertain function
chr19:38517470 T/T T
  • c.9797T>C - Uncertain function
chr19:38517521 rs757753317 G/G G
  • c.9848G>A - Uncertain function
chr19:38517523 T/T T
  • c.9850T>A - Uncertain function
chr19:38517541 rs112151058 G/G G
  • c.9868G>A - Uncertain function
chr19:38519237 rs118204421 C/C C
  • c.10042C>T - Uncertain function
chr19:38519238 rs193922834 G/G G
  • c.10043G>A - Uncertain function
chr19:38519292 rs137932199 G/G G
  • c.10097G>A - Normal function
chr19:38519295 rs118192126 A/A A
  • c.10100A>G - Normal function
chr19:38519424 C/C C
  • c.10229C>A - Uncertain function
chr19:38519432 A/A A
  • c.10237A>T - Uncertain function
chr19:38519447 A/A A
  • c.10252A>G - Uncertain function
chr19:38525432 C/C C
  • c.10556C>T - Uncertain function
chr19:38525492 rs143987857 G/G G
  • c.10616G>A - Normal function
chr19:38527707 rs55876273 G/G G
  • c.10747G>C - Normal function
chr19:38527710 G/G G
  • c.10750G>C - Uncertain function
chr19:38528372 G/G G
  • c.10891G>T - Uncertain function
chr19:38529002 G/G G
  • c.11086G>C - Uncertain function
chr19:38529036 rs193922838 G/G G
  • c.11120G>T - Uncertain function
chr19:38529042 C/C C
  • c.11126C>T - Uncertain function
chr19:38529048 rs375915752 C/C C
  • c.11132C>T - Uncertain function
chr19:38534726 rs4802584 C/C C
  • c.11266C>G - Normal function
chr19:38534774 rs763112609 C/C C
  • c.11314C>T - Uncertain function
chr19:38534775 rs193922839 G/G G
  • c.11315G>A - Malignant Hyperthermia associated
chr19:38535197 rs111565359 G/G G
  • c.11416G>A - Uncertain function
chr19:38535998 rs140616359 G/G G
  • c.11518G>A - Uncertain function
chr19:38543365 rs148399313 G/G G
  • c.11708G>A - Malignant Hyperthermia associated
chr19:38543380 A/A A
  • c.11723A>T - Uncertain function
chr19:38543405 rs193922840 T/T T
  • c.11748T>G - Uncertain function
chr19:38543551 rs147136339 A/A A
  • c.11798A>G - Normal function
chr19:38543566 G/G G
  • c.11813G>A - Uncertain function
chr19:38543810 C/C C
  • c.11947C>T - Uncertain function
chr19:38543816 rs118204422 T/T T
  • c.11953T>C - Uncertain function
chr19:38543821 rs193922842 C/C C
  • c.11958C>G - Uncertain function
chr19:38543832 rs193922843 G/G G
  • c.11969G>T - Malignant Hyperthermia associated
chr19:38546460 rs755088027 G/G G
  • c.12028G>A - Uncertain function
chr19:38546496 rs773040531 A/A A
  • c.12064A>G - Uncertain function
chr19:38548253 A/A A
  • c.12115A>T - Uncertain function
chr19:38548259 rs144685735 C/C C
  • c.12121C>T - Uncertain function
chr19:38548287 rs193922844 C/C C
  • c.12149C>A - Malignant Hyperthermia associated
chr19:38548380 rs373406011 C/C C
  • c.12242C>T - Uncertain function
chr19:38561140 G/G G
  • c.12310G>C - Normal function
chr19:38561185 rs193922848 A/A A
  • c.12355A>T - Uncertain function
chr19:38561213 C/C C
  • c.12383C>T - Uncertain function
chr19:38561228 rs201321695 A/A A
  • c.12398A>G - Uncertain function
chr19:38561236 rs193922849 C/C C
  • c.12406C>A - Normal function
chr19:38561243 rs193922850 T/T T
  • c.12413T>C - Uncertain function
chr19:38561362 G/G G
  • c.12532G>A - Uncertain function
chr19:38561363 G/G G
  • c.12533G>T - Uncertain function
chr19:38561383 rs151119428 G/G G
  • c.12553G>A - Uncertain function
chr19:38565023 T/T T
  • c.12689T>G - Uncertain function
chr19:38565034 rs193922852 G/G G
  • c.12700G>C - Malignant Hyperthermia associated
  • c.12700G>T - Malignant Hyperthermia associated
chr19:38565182 rs193922853 A/A A
  • c.12848A>T - Uncertain function
chr19:38565215 rs587784372 C/C C
  • c.12881C>T - Normal function
chr19:38565218 rs193922855 C/C C
  • c.12884C>T - Normal function
chr19:38566978 rs139647387 A/A A
  • c.13505A>G - Uncertain function
chr19:38566986 rs150396398 G/G G
  • c.13513G>C - Normal function
chr19:38570619 rs771741606 C/C C
  • c.13672C>T - Uncertain function
chr19:38570620 rs118192130 G/G G
  • c.13673G>A - Uncertain function
chr19:38570649 C/C C
  • c.13702C>G - Uncertain function
chr19:38572032 rs143520367 C/C C
  • c.13760C>T - Uncertain function
chr19:38572185 rs118192135 G/G G
  • c.13913G>A - Uncertain function
chr19:38572190 rs756850145 A/A A
  • c.13918A>G - Uncertain function
chr19:38572206 rs193922860 G/G G
  • c.13934G>A - Uncertain function
chr19:38572262 rs759500310 T/T T
  • c.13990T>C - Uncertain function
chr19:38572266 rs193922862 TC/TC TC
  • c.13994_13995delTCinsCT - Uncertain function
chr19:38573180 rs193922863 C/C C
  • c.14002C>T - Uncertain function
chr19:38573229 rs193922864 T/T T
  • c.14051T>C - Uncertain function
chr19:38573304 rs118192140 C/C C
  • c.14126C>T - Uncertain function
chr19:38575957 rs200766617 G/G G
  • c.14168G>A - Normal function
chr19:38577931 A/A A
  • c.14186A>C - Uncertain function
chr19:38577942 rs193922865 T/T T
  • c.14197T>G - Uncertain function
chr19:38577946 rs193922866 G/G G
  • c.14201G>A - Uncertain function
chr19:38577954 rs193922867 C/C C
  • c.14209C>T - Malignant Hyperthermia associated
chr19:38577955 rs193922868 G/G G
  • c.14210G>A - Malignant Hyperthermia associated
chr19:38578015 rs768360593 G/G G
  • c.14270G>A - Uncertain function
chr19:38578205 G/G G
  • c.14364+1G>T - Uncertain function
chr19:38580004 rs118192167 A/A A
  • c.14387A>G - Uncertain function
chr19:38580039 TT/TT TT
  • c.14422_14423delinsAA - Uncertain function
chr19:38580041 C/C C
  • c.14424C>A - Uncertain function
chr19:38580066 rs143988412 A/A A
  • c.14449A>T - Uncertain function
chr19:38580075 rs193922873 G/G G
  • c.14458G>A - Uncertain function
  • c.14458G>T - Uncertain function
chr19:38580088 rs193922874 T/T T
  • c.14471T>C - Uncertain function
chr19:38580094 rs121918595 C/C C
  • c.14477C>T - Malignant Hyperthermia associated
chr19:38580114 rs193922876 C/C C
  • c.14497C>T - Malignant Hyperthermia associated
chr19:38580126 C/C C
  • c.14509C>G - Uncertain function
chr19:38580370 rs193922878 C/C C
  • c.14512C>G - Malignant Hyperthermia associated
chr19:38580382 rs193922879 G/G G
  • c.14524G>A - Uncertain function
chr19:38580397 G/G G
  • c.14539G>C - Malignant Hyperthermia associated
chr19:38580403 rs118192168 G/G G
  • c.14545G>A - Malignant Hyperthermia associated
chr19:38580416 C/C C
  • c.14558C>T - Uncertain function
chr19:38580425 rs193922880 C/C C
  • c.14567C>G - Uncertain function
chr19:38580439 rs118192181 C/C C
  • c.14581C>T - Uncertain function
chr19:38580440 rs63749869 G/G G
  • c.14582G>A - Uncertain function
chr19:38580485 rs113210953 A/A A
  • c.14627A>G - Malignant Hyperthermia associated
chr19:38580497 rs193922883 T/T T
  • c.14639T>C - Uncertain function
chr19:38584974 rs118192151 G/G G
  • c.14678G>A - Uncertain function
chr19:38584976 rs193922888 G/G G
  • c.14680G>A - Uncertain function
chr19:38584989 rs118192170 T/T T
  • c.14693T>C - Uncertain function
chr19:38585078 A/A A
  • c.14782A>G - Uncertain function
chr19:38585099 G/G G
  • c.14803G>A - Malignant Hyperthermia associated
chr19:38585947 rs111657878 T/T T
  • c.14813T>C - Uncertain function
chr19:38585948 rs118192159 C/C C
  • c.14814C>G - Uncertain function
chr19:38585951 rs193922895 C/C C
  • c.14817C>A - Uncertain function
chr19:38585952 rs118192158 G/G G
  • c.14818G>A - Uncertain function
chr19:38585959 rs193922896 G/G G
  • c.14825G>T - Uncertain function
chr19:38586101 rs193922898 T/T T
  • c.14879T>A - Uncertain function
chr19:38586140 rs146876145 C/C C
  • c.14918C>T - Malignant Hyperthermia associated
chr19:38586190 A/A A
  • c.14968A>G - Uncertain function
chr19:38587362 G/G G
  • c.15059G>C - Uncertain function
chr19:38587363 G/G G
  • c.15060G>C - Uncertain function

SLCO1B1 allele match data

Genotype Matched: *1/*1
Phasing Status:

Unphased

PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.

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.
The SLCO1B1 *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
chr12:21172734 rs139257324 C/C C
  • *33 - Uncertain function
chr12:21172776 rs373327528 G/G G
  • *23 - No function
chr12:21172782 rs56101265 T/T T
  • *2 - Uncertain function
  • *12 - Uncertain function
chr12:21174595 rs56061388 T/T T
  • *3 - Uncertain function
  • *13 - Uncertain function
chr12:21176804 rs2306283 A/A A
  • *14 - Increased function
  • *15 - No function
  • *20 - Increased function
  • *24 - Uncertain function
  • *25 - Uncertain function
  • *27 - Uncertain function
  • *28 - Uncertain function
  • *29 - Uncertain function
  • *30 - Uncertain function
  • *31 - No function
  • *32 - Uncertain function
  • *33 - Uncertain function
  • *37 - Normal function
  • *39 - Uncertain function
  • *42 - Uncertain function
  • *43 - Unknown function
  • *44 - Unknown function
  • *46 - No function
  • *47 - No function
chr12:21176868 rs2306282 A/A A
  • *16 - Uncertain function
chr12:21176871 G/G G
  • *38 - Uncertain function
chr12:21176879 rs11045819 C/C C
  • *4 - Uncertain function
  • *14 - Increased function
  • *25 - Uncertain function
  • *32 - Uncertain function
  • *43 - Unknown function
chr12:21176883 rs72559745 A/A A
  • *3 - Uncertain function
  • *13 - Uncertain function
chr12:21176898 rs77271279 G/G G
  • *41 - Uncertain function
chr12:21178612 rs141467543 A/A A
  • *42 - Uncertain function
chr12:21178615 rs4149056 T/T T
  • *5 - No function
  • *15 - No function
  • *40 - Uncertain function
  • *46 - No function
  • *47 - No function
chr12:21178957 rs79135870 A/A A
  • *30 - Uncertain function
chr12:21196951 rs11045852 A/A A
  • *24 - Uncertain function
  • *25 - Uncertain function
  • *28 - Uncertain function
  • *32 - Uncertain function
  • *33 - Uncertain function
  • *43 - Unknown function
  • *44 - Unknown function
chr12:21196975 rs183501729 C/C C
  • *39 - Uncertain function
chr12:21196976 rs11045853 G/G G
  • *25 - Uncertain function
  • *28 - Uncertain function
  • *33 - Uncertain function
chr12:21200544 rs72559747 C/C C
  • *47 - No function
chr12:21200595 rs55901008 T/T T
  • *6 - Uncertain function
chr12:21202553 rs1228465562 T/T T
  • *36 - Uncertain function
chr12:21202555 rs59113707 C/C C
  • *27 - Uncertain function
chr12:21202649 rs56387224 A/A A
  • *7 - Uncertain function
chr12:21202664 rs142965323 G/G G
  • *26 - Uncertain function
chr12:21205921 rs72559748 A/A A
  • *8 - Uncertain function
chr12:21205999 rs59502379 G/G G
  • *9 - No function
  • *31 - No function
chr12:21206031 rs74064213 A/A A
  • *43 - Unknown function
  • *44 - Unknown function
chr12:21222355 rs71581941 C/C C
  • *45 - Unknown function
  • *46 - No function
chr12:21239042 rs34671512 A/A A
  • *19 - Uncertain function
  • *20 - Increased function
  • *40 - Uncertain function
chr12:21239077 rs56199088 A/A A
  • *10 - Uncertain function
  • *12 - Uncertain function
chr12:21239113 rs55737008 A/A A
  • *11 - Uncertain function
  • *13 - Uncertain function
chr12:21239145 rs200995543 C/C C
  • *34 - Uncertain function
chr12:21239158 rs140790673 C/C C
  • *29 - Uncertain function

TPMT allele match data

Genotype Matched: *1/*1
Phasing Status:

Unphased

PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.

The TPMT *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
chr6:18130687 rs1142345 T/T T
  • *3A - No function
  • *3C - No function
  • *41 - No function
chr6:18130694 rs150900439 T/T T
  • *20 - Uncertain function
chr6:18130725 rs72552736 A/A A
  • *7 - Uncertain function
chr6:18130729 rs139392616 C/C C
  • *40 - Uncertain function
chr6:18130758 rs398122996 A/A A
  • *37 - Uncertain function
chr6:18130762 rs56161402 C/C C
  • *8 - Uncertain function
chr6:18130772 rs377085266 A/A A
  • *25 - Uncertain function
chr6:18130781 rs1800584 C/C C
  • *4 - No function
chr6:18132136 rs72556347 A/A A
  • *26 - Uncertain function
chr6:18132147 rs79901429 A/A A
  • *31 - Uncertain function
chr6:18132163 C/C C
  • *36 - Unknown function
chr6:18133845 rs75543815 T/T T
  • *6 - Uncertain function
chr6:18133847 rs6921269 C/C C
  • *24 - Uncertain function
chr6:18133870 rs772832951 A/A A
  • *38 - Unknown function
chr6:18133884 rs74423290 G/G G
  • *23 - No function
chr6:18133887 rs201695576 T/T T
  • *44 - Unassigned function
chr6:18133890 rs9333570 C/C C
  • *15 - No function
chr6:18138969 rs144041067 C/C C
  • *16 - Uncertain function
  • *22 - Uncertain function
chr6:18138970 rs112339338 G/G G
  • *33 - Uncertain function
chr6:18138997 rs1800460 C/C C
  • *3A - No function
  • *3B - No function
chr6:18139027 rs72552737 C/C C
  • *10 - Uncertain function
chr6:18139689 rs72552738 C/C C
  • *11 - No function
chr6:18139710 rs200220210 G/G G
  • *12 - Uncertain function
chr6:18143597 T/T T
  • *19 - Uncertain function
chr6:18143606 rs151149760 T/T T
  • *9 - Uncertain function
chr6:18143613 C/C C
  • *28 - Uncertain function
chr6:18143622 rs115106679 C/C C
  • *32 - Uncertain function
chr6:18143643 A/A A
  • *27 - Uncertain function
chr6:18143700 rs753545734 C/C C
  • *43 - Unassigned function
chr6:18143718 rs111901354 G/G G
  • *34 - Uncertain function
chr6:18143724 rs1800462 C/C C
  • *2 - No function
chr6:18143728 rs1256618794 C/C C
  • *43 - Unassigned function
chr6:18147838 rs281874771 G/G G
  • *39 - Uncertain function
chr6:18147845 rs777686348 C/C C
  • *18 - Uncertain function
chr6:18147851 rs200591577 G/G