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rs16947 CYP2D6

CYP2D6 2850C>T (R296C) homozygous. Shared variant in *2, *8, *11, *12, *14, *17, *29, *41 haplotypes.

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

What is rs16947?

rs16947 is a single-nucleotide polymorphism (SNP) in the CYP2D6 gene (Cytochrome P450 2D6). 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 rs16947 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
AAtypicalCYP2D6 2850C>T (R296C) homozygous. Shared variant in *2, *8, *11, *12, *14, *17, *29, *41 haplotypes.75%
GA / AGtypicalCYP2D6 2850C>T heterozygous. Shared variant in multiple star alleles.70%
GGtypicalCYP2D6 reference at position 2850.75%

How common is the A allele of rs16947?

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

European33.0%
East Asian15.0%
African50.0%
South Asian30.0%
Admixed American30.0%
Global30.0%

Is rs16947 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.