rs28371685

This is a missense variant in the CYP2C9 gene.

Key Literature Trait Associations

Warfarin Sensitivity

CYP2C9*11 carries an R150H substitution that reduces enzymatic function. This variant contributes to warfarin dose variability especially in non-European populations where it is more commonly found. CPIC classifies *11 as a decreased-function allele, and carriers may require lower warfarin doses compared to those with normal CYP2C9 activity.

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

Allele T

OR —

β -0.500

p 1.0e-6

Preliminary work

“Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Pharmacogenetics-Guided Warfarin Dosing: 2017 Update”

Allele T

OR —

p —

Major Consortium Study

▶

ClinVar annotation

Drug Response★★★☆

4 submitters13 publications

Flurbiprofen response; Lesinurad response; not provided; Piroxicam response; not specified

View on ClinVar →

▶

Research that mentions this SNP (1)

▶

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

rs28371685

Key Literature Trait Associations

Warfarin Sensitivity

ClinVar annotation

Research that mentions this SNP (1)

Community Wiki

Comments