rs72552267

badMag 6.5

This is a variant in the CYP2C19 gene that changes a arginine to an glutamine.

Key Literature Trait Associations

Drug Metabolism (CYP2C19)

CYP2C19*6 (R132Q) is a rare no-function allele caused by a missense mutation (c.395G>A) in exon 3 that substitutes arginine with glutamine at position 132. This substitution abolishes CYP2C19 enzymatic activity, resulting in no metabolism of prodrugs such as clopidogrel to their active metabolites. Carriers are classified as intermediate or poor metabolizers by CPIC guidelines.

Scott SA et al. “Clinical Pharmacogenetics Implementation Consortium guidelines for CYP2C19 genotype and clopidogrel therapy: 2013 update.” Clinical Pharmacology and Therapeutics 94(3):317-323 (2013)

Allele A

OR —

p —

Major Consortium Study

Lee CR et al. “Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2C19 Genotype and Clopidogrel Therapy: 2022 Update.” Clinical Pharmacology and Therapeutics (2022)

Allele A

OR —

p —

Major Consortium Study

multi-ancestry

Mega JL et al. “Reduced-function CYP2C19 genotype and risk of adverse clinical outcomes among patients treated with clopidogrel predominantly for PCI: a meta-analysis.” Jama (2010)

Allele A

OR 1.55

p 1.0e-2

N 9,685

Meta-analysis

multi-ancestry

Chuwongwattana S et al. “Impact of CYP2C19, CYP3A4, ABCB1, and FMO3 genotypes on plasma voriconazole in Thai patients with invasive fungal infections.” Pharmacology Research & Perspectives (2020)

Allele A

OR —

p —

N 177

Candidate gene study

East Asian

Moriyama B et al. “Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP2C19 and Voriconazole Therapy.” Clinical Pharmacology and Therapeutics (2017)

Allele A

OR —

p —

Major Consortium Study

multi-ancestry

Bousman CA et al. “Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants.” Clinical Pharmacology and Therapeutics (2023)

Allele A

OR —

p —

Major Consortium Study

multi-ancestry

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ClinVar annotation

Drug Response★★★★

1 submitter5 publications

CYP2C19: no function; Citalopram response; Clopidogrel response; Escitalopram response; Sertraline response; Voriconazole response

View on ClinVar →

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Research that mentions this SNP (1)

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Interindividual Variability in the Hepatic Expression of the Human Breast Cancer Resistance Protein (BCRP/ABCG2): Effect of Age, Sex, and Genotype

AssociationN=1,000Bhagwat Prasad et al.(2013)· Journal of Pharmaceutical Sciences

Case-control study of 1,000 Han Chinese individuals (450 epilepsy cases, 550 controls) examining associations between STX1B polymorphisms and epilepsy treatment response. The rs140820592 variant showed significant association with reduced epilepsy risk (OR=0.542, p=0.004) and drug-resistant epilepsy risk (OR=0.260, p=0.004), with eQTL analysis confirming rs140820592 regulates STX1B expression in brain tissues.

Traits studied:Drug-resistant epilepsyDrug-responsive epilepsyEpilepsyImatinib response in chronic myelogenous leukemiaPraziquantel responseTacrolimus metabolism

rs72552267

Key Literature Trait Associations

Drug Metabolism (CYP2C19)

ClinVar annotation

Research that mentions this SNP (1)

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