rs28371674

This is a missense variant in the CYP2C9 gene.

Key Literature Trait Associations

CYP2C9 Drug Metabolism

CYP2C9*12 carries a P489S substitution that reduces enzymatic function. Although rare, this variant contributes to residual dose variability for warfarin and phenytoin that is not explained by the more common *2 and *3 alleles. Including *12 in CYP2C9 genotyping panels improves the accuracy of metabolizer phenotype prediction.

Shams ME et al. “CYP2D6 polymorphism and clinical effect of the antidepressant venlafaxine.” Journal of Clinical Pharmacy and Therapeutics 31(5):493-502 (2006)

Allele T

OR —

p —

Candidate gene study

Gene information from NCBI Gene. Variant classifications from ClinVar.

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