rs61742245
This is a missense variant in the VKORC1 gene.
Key Literature Trait Associations
Warfarin Resistance
VKORC1 Asp36Tyr is a rare missense variant that causes warfarin resistance by directly altering the drug binding site on vitamin K epoxide reductase. Carriers require dramatically higher warfarin doses, sometimes exceeding 10 mg/day, to achieve therapeutic anticoagulation. This variant should be suspected when patients show unexpectedly poor response to standard or even elevated warfarin doses.
▶ClinVar annotation
Warfarin response; Vitamin K-dependent clotting factors, combined deficiency of, type 2; not provided; Thrombus; not specified; warfarin response - Dosage; VKORC1-related disorder
View on ClinVar →▶Research that mentions this SNP (1)
▶VKORC1-1639G>A, CYP2C9, EPHX1691A>G genotype, body weight, and age are important predictors for warfarin maintenance doses in patients with mechanical heart valve prostheses in southwest ChinaAssociationN=260Qiang Gu et al.(2010)· European Journal of Clinical Pharmacology
Study of 127 southwest Chinese Han patients with mechanical heart valve prostheses examined genetic polymorphisms in VKORC1 -1639G>A (rs9923231), CYP2C9 (*3: rs1057910, IVS3-65G>C: rs9332127), and EPHX1 691A>G (rs4653436) as predictors of warfarin maintenance dosage. A multiple linear regression model incorporating these genetic variants plus age and body weight explained 74.3% of interindividual variability in warfarin dosing, with VKORC1 -1639G>A being the strongest predictor (r=0.769, p<0.001).
Gene information from NCBI Gene. Variant classifications from ClinVar.
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