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rs72552267 CYP2C19

CYP2C19*6 homozygous (R132Q). Loss of CYP2C19 function; poor metabolizer of clopidogrel, PPIs, and SSRIs.

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

What is rs72552267?

rs72552267 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 rs72552267 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
AAreducedCYP2C19*6 homozygous (R132Q). Loss of CYP2C19 function; poor metabolizer of clopidogrel, PPIs, and SSRIs.90%
GA / AGreducedCYP2C19*6 carrier. One non-functional allele.85%
GGtypicalNo CYP2C19*6 variant detected.90%

How common is the A allele of rs72552267?

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

European0.1%
East Asian0.1%
African0.1%
South Asian0.1%
Admixed American0.1%
Global0.1%

Is rs72552267 on 23andMe and AncestryDNA chips?

Chip coverage is not recorded for this variant. Orviva reports it when a raw-data file contains it directly or via a well-correlated proxy SNP, and says so when it does not.

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.