rs7900194

This is a missense variant in the CYP2C9 gene.

Key Literature Trait Associations

Warfarin Sensitivity

CYP2C9*8 is a reduced-function variant found primarily in African Americans at 4-8% allele frequency. The amino acid substitution impairs CYP2C9 catalytic activity, reducing warfarin metabolism. This variant is clinically important for warfarin dosing in populations of African descent where the common *2 and *3 alleles are rare, and its inclusion significantly improves dose prediction algorithms for these populations.

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

Allele A

OR —

β -0.700

p 1.0e-12

Large GWAS

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ClinVar annotation

Drug Response★★★☆

3 submitters12 publications

Lesinurad response; Piroxicam response; Flurbiprofen response; not provided

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

rs7900194

Key Literature Trait Associations

Warfarin Sensitivity

ClinVar annotation

Research that mentions this SNP (1)

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