rs117913124

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

14879385

Gene

CYP2R1

is a	snp
is	mentioned by
dbSNP	rs117913124
dbSNP (classic)	rs117913124
ClinGen	rs117913124
ebi	rs117913124
HLI	rs117913124
Exac	rs117913124
Gnomad	rs117913124
Varsome	rs117913124
LitVar	rs117913124
Map	rs117913124
PheGenI	rs117913124
Biobank	rs117913124
1000 genomes	rs117913124
hgdp	rs117913124
ensembl	rs117913124
geneview	rs117913124
scholar	rs117913124
google	rs117913124
pharmgkb	rs117913124
gwascentral	rs117913124
openSNP	rs117913124
23andMe	rs117913124
SNPshot	rs117913124
SNPdbe	rs117913124
MSV3d	rs117913124
GWAS Ctlg	rs117913124

Max Magnitude

3

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 28757204]