Warfarin response: genes and variants
Warfarin response is linked to 2 analyzed proteins (VKORC1 and CYP2C9). 4 DNA variants are known to cause it; 1 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Warfarin response
VKORC1: Vitamin K epoxide reductase complex subunit 1
It recycles vitamin K to support gamma-carboxylation of coagulation proteins and is the direct pharmacologic target of warfarin. Common variants strongly influence warfarin dose requirements, while rare variants can cause warfarin resistance or vitamin-K-dependent clotting-factor deficiency.
3 disease-causing and 1 uncertain variants in VKORC1 are linked to Warfarin response.
CYP2C9: Cytochrome P450 2C9
An endoplasmic-reticulum cytochrome P450 enzyme that oxidizes drugs and endogenous molecules such as fatty acids and steroids. Its activity varies between individuals, so CYP2C9 variation is important in pharmacogenetics and medication-response research.
1 disease-causing and 0 uncertain variants in CYP2C9 are linked to Warfarin response.
Weakly linked (only a few uncertain records): CYP2A6.
Known disease-causing variants in Warfarin response
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| VKORC1 V29L | 29 | Transmembrane | Disease-causing |
| VKORC1 V45A | 45 | Lumenal | Disease-causing |
| CYP2C9 L208V | 208 | Disease-causing | |
| VKORC1 R58G | 58 | Lumenal | Disease-causing |
Diseases related to Warfarin response
- Myocardial infarction, also linked to VKORC1
Frequently asked questions
Which genes are linked to Warfarin response?
In CATVariant, Warfarin response is linked to 2 analyzed proteins: VKORC1 (Vitamin K epoxide reductase complex subunit 1) and CYP2C9 (Cytochrome P450 2C9).
How many genetic variants are linked to Warfarin response?
12 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in Warfarin response look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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