rs28371686

This is a missense variant in the CYP2C9 gene.

Key Literature Trait Associations

Warfarin Sensitivity

CYP2C9*5 is a rare loss-of-function variant found primarily in African American populations (~3.5% allele frequency). The substitution reduces CYP2C9 enzymatic activity, leading to impaired metabolism of warfarin and other CYP2C9 substrates. This variant is important for accurate warfarin dose prediction in populations of African descent where *2 and *3 are less prevalent.

Peng Y et al. “Structural basis of substrate recognition in thiopurine s-methyltransferase.” Biochemistry 47(23):6216-6225 (2008)

Allele G

OR —

β -0.500

p 1.0e-8

Large GWAS

“Warfarin Dosing in Patients With CYP2C9*5 Variant Alleles”

Allele G

OR —

β -1.870

p 1.0e-3

Candidate gene study

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ClinVar annotation

Drug Response★★★☆

4 submitters12 publications

not provided; Lesinurad response; Flurbiprofen response; Piroxicam 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

rs28371686

Key Literature Trait Associations

Warfarin Sensitivity

ClinVar annotation

Research that mentions this SNP (1)

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