Orviva

Learn · Variants · CYP2R1

rs2060793 CYP2R1

CYP2R1 variant. Reduced 25-hydroxylation of vitamin D; lower circulating 25(OH)D levels.

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

What is rs2060793?

rs2060793 is a single-nucleotide polymorphism (SNP) in the CYP2R1 gene (Cytochrome P450 2R1 (vitamin D 25-hydroxylase)). 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 rs2060793 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
AAincreasedCYP2R1 variant. Reduced 25-hydroxylation of vitamin D; lower circulating 25(OH)D levels.80%
GA / AGincreasedModerately reduced vitamin D activation.77%
GGtypicalNormal vitamin D metabolism.80%

How common is the A allele of rs2060793?

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

European35.0%
East Asian15.0%
African28.0%
South Asian30.0%
Admixed American30.0%
Global28.0%

Is rs2060793 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.