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rs117913124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 3 At least 2x higher risk for vitamin D insufficiency; also somewhat higher risk for MS
(A;G) 2.2 ~2x higher risk for vitamin D insufficiency; also 1.4x higher risk for MS
(G;G) 0 common/normal
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position14879385
GeneCYP2R1
is asnp
is mentioned by
dbSNPrs117913124
dbSNP (old)rs117913124
ClinGenrs117913124
ebirs117913124
HLIrs117913124
Exacrs117913124
Gnomadrs117913124
Varsomers117913124
Maprs117913124
PheGenIrs117913124
Biobankrs117913124
1000 genomesrs117913124
hgdprs117913124
ensemblrs117913124
gopubmedrs117913124
geneviewrs117913124
scholarrs117913124
googlers117913124
pharmgkbrs117913124
gwascentralrs117913124
openSNPrs117913124
23andMers117913124
23andMe allrs117913124
SNPshotrs117913124
SNPdbers117913124
MSV3drs117913124
GWAS Ctlgrs117913124
Max Magnitude3

rs117913124 represents a synonymous variant (p.Aps120Asp) in the CYP2R1 gene on chromosome 11.

Sequencing, imputation and meta-analysis led to the conclusion that the rs117913124(A) minor allele leads to ~2x the risk of Vitamin D insufficiency, defined as 25OHD levels < 50nmol/L (odds ratio 2.2, CI:1.8-2.8, p = 1.2x10e12). Individuals carrying a rs117913124(A) allele also had somewhat higher odds of developing multiple sclerosis (OR 1.4, CI: 1.19-1.64, p = 2.63x10e-5).[PMID 28757204OA-icon.png]