rs7129781

This variant is located in the CYP2R1 gene.

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GWAS Catalog Trait Associations (3)

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

vitamin D level

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele C

OR 0.10

p 1.0e-104

N 339,705

Major Consortium StudyLarge GWAS

multi-ancestry

vitamin D deficiency

Amin HA et al. “No evidence that vitamin D is able to prevent or affect the severity of COVID-19 in individuals with European ancestry: a Mendelian randomisation study of open data.” Bmj Nutrition, Prevention & Health 4(1):42-48 (2021)

Allele C

OR 0.19

p 4.0e-33

N 175,977

Large GWAS

European

HbA1c measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele C

OR 0.03

p 2.0e-9

N 338,919

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Association

1 submitter

Pulmonary disease, chronic obstructive, susceptibility to

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]

rs7129781

GWAS Catalog Trait Associations (3)

vitamin D level

vitamin D deficiency

HbA1c measurement

ClinVar annotation

About CYP2R1

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