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rs4244285 CYP2C19

CYP2C19*2 homozygous poor metabolizer. Clopidogrel may be ineffective; consider alternative antiplatelet.

Curated · human-reviewed Drug response · Risk / effect allele: A · dbSNP

What is rs4244285?

rs4244285 is a single-nucleotide polymorphism (SNP) in the CYP2C19 gene (Cytochrome P450 2C19). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as AA. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs4244285 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
AAreducedCYP2C19*2 homozygous poor metabolizer. Clopidogrel may be ineffective; consider alternative antiplatelet.93%
GA / AGreducedCYP2C19*2 intermediate metabolizer. Reduced clopidogrel activation.90%
GGtypicalNormal CYP2C19 function. Standard clopidogrel response.92%

How common is the A allele of rs4244285?

Minor-allele frequency by population (gnomAD / 1000 Genomes):

European15.0%
East Asian30.0%
African15.0%
South Asian35.0%
Admixed American12.0%
Global21.0%

Which drugs have annotations for rs4244285?

PharmGKB clinical annotations (level 1A is the strongest evidence, 4 the weakest):

DrugAnnotation typeEvidence level
prasugrelEfficacy, Toxicity, Metabolism/PK, Dosage, Other3
venlafaxineEfficacy, Toxicity, Metabolism/PK, Dosage, Other3

Is rs4244285 on 23andMe and AncestryDNA chips?

Yes — it is genotyped directly on 23andMe V3, 23andMe V4, 23andMe V5, AncestryDNA V1, AncestryDNA V2. Orviva reads it from a raw-data export without imputation.

Sources

Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.