rs117913124

This is a synonymous variant in the CYP2R1 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

vitamin D level

Manousaki D et al. “Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci.” American Journal of Human Genetics 106(3):327-337 (2020)

Allele A

OR 0.35

p —

N 443,734

Large GWAS

European

O'Brien KM et al. “Genome-Wide Association Study of Serum 25-Hydroxyvitamin D in US Women.” Frontiers in Genetics 9:67 (2018)

Allele A

OR 5.10

p 1.0e-10

N 1,829

Large GWAS

multi-ancestry

vitamin D deficiency

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.45

p 2.0e-139

N 584,251

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Likely Benign★★★☆

5 submitters4 publications

Vitamin D hydroxylation-deficient rickets, type 1B

View on ClinVar →

About CYP2R1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]