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rs2060793

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2 Lower serum levels of vitamin D
(G;G) 1 Higher serum levels of vitamin D
Make rs2060793(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position14893764
GeneCYP2R1, LOC107984314
is asnp
is mentioned by
dbSNPrs2060793
dbSNP (classic)rs2060793
ClinGenrs2060793
ebirs2060793
HLIrs2060793
Exacrs2060793
Gnomadrs2060793
Varsomers2060793
LitVarrs2060793
Maprs2060793
PheGenIrs2060793
Biobankrs2060793
1000 genomesrs2060793
hgdprs2060793
ensemblrs2060793
geneviewrs2060793
scholarrs2060793
googlers2060793
pharmgkbrs2060793
gwascentralrs2060793
openSNPrs2060793
23andMers2060793
SNPshotrs2060793
SNPdbers2060793
MSV3drs2060793
GWAS Ctlgrs2060793
GMAF0.3613
Max Magnitude2
? (A;A) (A;G) (G;G) 28


GWAS snp
PMID [PMID 20418485OA-icon.png]
Trait Vitamin D levels
Title Genome-wide association study of circulating vitamin D levels
Risk Allele A
P-val 3E-17
Odds Ratio 0.25 [0.15-0.35] unit increase


[PMID 21972121] Associations between common variants in GC and DHCR7/NADSYN1 and vitamin D concentration in Chinese Hans.


[PMID 22613962OA-icon.png] Genetic Influences on Vitamin D Status and Forearm Fracture Risk in African American Children.

[PMID 23128285OA-icon.png] Levels of 25-hydroxyvitamin D in familial longevity: the Leiden Longevity Study. Concluded that familial longevity was associated with a lower vitamin D levels and a lower frequency of the allelic variation in the CYP2R1 gene.

[PMID 20418485OA-icon.png] Genome-wide association study of circulating vitamin D levels. This SNP is part of CYP2R1, which encodes a key C-25 hydroxylase that converts vitamin D3 to an active vitamin D receptor ligand. This SNP, along with rs2282679, rs3829251, and rs6599638 accounted for 2.8% of the variance in circulating vitamin D levels.


[PMID 23505139] An analysis of the association between the vitamin D pathway and serum 25-hydroxyvitamin D levels in a healthy Chinese population


[PMID 22801813] The GC, CYP2R1 and DHCR7 genes are associated with vitamin D levels in northeastern Han Chinese children.


[PMID 26448018OA-icon.png] Variants in Vitamin D Binding Protein Gene Are Associated With Gestational Diabetes Mellitus


[PMID 27813049] Genetic Expression Profile of Vitamin D Metabolizing Enzymes in the First Trimester.