rs9332131

This is a frameshift variant in the CYP2C9 gene.

Key Literature Trait Associations

Warfarin Sensitivity

CYP2C9*6 is a frameshift deletion causing complete loss of CYP2C9 enzyme function. Although very rare globally, carriers who receive standard warfarin doses face serious bleeding risk due to inability to metabolize the drug. CPIC classifies *6 as a no-function allele requiring the same dose adjustments as other null CYP2C9 variants.

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

Allele del

OR —

β -1.000

p 1.0e-10

Large GWAS

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

Allele del

OR —

p —

Major Consortium Study

Gene information from NCBI Gene. Variant classifications from ClinVar.

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