rs72558189

badMag 5.5

This is a protein-altering variant in the CYP2C9 gene.

Key Literature Trait Associations

Warfarin Sensitivity

The CYP2C9*14 allele (R125H) encodes a severely impaired enzyme with only 4-6% residual activity toward CYP2C9 substrates in vitro. A clinical case report demonstrated that a patient carrying CYP2C9*1/*14 required a substantially reduced warfarin maintenance dose of approximately 2.9 mg/day. This variant is most common in South Asian populations (frequency ~2% in South Indians).

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

Allele A

OR —

p —

Major Consortium Study

multi-ancestry

Sangkuhl K et al. “PharmVar GeneFocus: CYP2C9.” Clinical Pharmacology and Therapeutics 110(3):662-676 (2021)

Allele A

OR —

p —

Candidate gene study

Ranasinghe P et al. “Pharmacogenomic variants affecting efficacy and safety of medicines acting on central nervous system among Sri Lankans.” Pharmacogenomics (2025)

Allele A

OR —

p —

N 690

Preliminary work

South Asian (Sri Lankan)

Zhang J et al. “Cytochrome P450 2C9 gene polymorphism and warfarin maintenance dosage in pediatric patients: A systematic review and meta-analysis.” Cardiovascular Therapeutics (2017)

Allele A

OR —

p —

N 507

Meta-analysis

multi-ancestry

Ahmed S et al. “Genetic Polymorphisms and In Silico Mutagenesis Analyses of CYP2C9, CYP2D6, and CYPOR Genes in the Pakistani Population.” Genes (2018)

Allele A

OR —

p —

N 244

Candidate gene study

South Asian (Pakistani)

Hizbullah et al. “Genetic variations in drug-metabolizing enzyme CYP2C9 among major ethnic groups of Pakistani population.” Gene (2020)

Allele A

OR —

p —

N 159

Candidate gene study

South Asian (Pakistani)

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ClinVar annotation

Benign★★★☆

2 submitters2 publications

View on ClinVar →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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