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rs10741657

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 tend to have higher vitamin D levels
(G;G) 1.25 tend to have lower vitamin D levels
Make rs10741657(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position14893332
GeneCYP2R1, LOC107984314
is asnp
is mentioned by
dbSNPrs10741657
dbSNP (classic)rs10741657
ClinGenrs10741657
ebirs10741657
HLIrs10741657
Exacrs10741657
Gnomadrs10741657
Varsomers10741657
LitVarrs10741657
Maprs10741657
PheGenIrs10741657
Biobankrs10741657
1000 genomesrs10741657
hgdprs10741657
ensemblrs10741657
geneviewrs10741657
scholarrs10741657
googlers10741657
pharmgkbrs10741657
gwascentralrs10741657
openSNPrs10741657
23andMers10741657
SNPshotrs10741657
SNPdbers10741657
MSV3drs10741657
GWAS Ctlgrs10741657
GMAF0.3338
Max Magnitude1.25
? (A;A) (A;G) (G;G) 28


rs10741657, located near the cytochrome P450, family 2, subfamily R, polypeptide 1 CYP2R1 gene on chromosome 11p15, has been linked by several studies to vitamin D serum concentrations.

In both studies, the allele associated with lower vitamin D, and thus the potential for vitamin D insufficiency, is rs10741657(G). Carriers of two such alleles have lower vitamin D than carriers of one allele, who in turn on average have lower vitamin D levels than rs10741657(A;A) individuals.[PMID 20541252OA-icon.png]

[PMID 21431378OA-icon.png] The 'A' allele of CYP2R1 rs10741657 was associated with increased 25(OH)D levels in a study of vitamin D levels and MS risk in 1,655 cases and 6,349 controls.

GWAS snp
PMID [PMID 20541252OA-icon.png]
Trait Vitamin D insufficiency
Title Common genetic determinants of vitamin D insufficiency: a genome-wide association study.
Risk Allele
P-val 3E-20
Odds Ratio None None

[PMID 17607662] CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans.


[PMID 19783860] A rare haplotype of the vitamin D receptor gene is protective against diabetic nephropathy.


[PMID 22559001] Impaired Vitamin D activation and association with CYP24A1 haplotypes in differentiated thyroid carcinoma.


[PMID 22583563OA-icon.png] Genetic and environmental predictors of serum 25-hydroxyvitamin D concentrations among middle-aged and elderly Chinese in Singapore.


[PMID 22690899OA-icon.png] Impaired Vitamin D Activation and Association with CYP24A1 Haplotypes in Differentiated Thyroid Carcinoma.

[PMID 22701574OA-icon.png] Instrumental variable estimation of the causal effect of plasma 25-hydroxy-vitamin D on colorectal cancer risk: a mendelian randomization analysis

[PMID 23416105] Vitamin D status and gene transcription in immune cells

[PMID 23734184OA-icon.png] Genetic Analyses Reveal a Role for Vitamin D Insufficiency in HCV-Associated Hepatocellular Carcinoma Development

[PMID 23924835] Genetic variant in vitamin D binding protein is associated with serum 25-hydroxyvitamin D and vitamin D insufficiency in southern Chinese [PMID 22673963OA-icon.png] Genome-wide association analysis of circulating vitamin D levels in children with asthma.


[PMID 22740028OA-icon.png] An exploratory analysis of common genetic variants in the vitamin D pathway including genome-wide associated variants in relation to glioma risk and outcome.


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


[PMID 23319826] Vitamin D and mortality: a Mendelian randomization study.


[PMID 23730842] Association of vitamin D serum levels and its common genetic determinants, with severity of liver fibrosis in genotype 1 chronic hepatitis C patients.


[PMID 23793229] Association of common gene variants in vitamin D modulating genes and colon cancer recurrence.

[PMID 25003556] Triangular relationship between single nucleotide polymorphisms in the CYP2R1 gene (rs10741657 and rs12794714), 25-hydroxyvitamin d levels, and coronary artery disease incidence

[PMID 25527766] Common variants in CYP2R1 and GC genes are both determinants of serum 25-hydroxyvitamin D concentrations after UVB irradiation and after consumption of vitamin D₃-fortified bread and milk during winter in Denmark

[PMID 26383826] Association of rs7041 and rs4588 Polymorphisms of the Vitamin D Binding Protein and the rs10741657 Polymorphism of CYP2R1 with Vitamin D Status Among Jordanian Patients

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


[PMID 27570856OA-icon.png] Genetic influence on circulating vitamin D among Saudi Arabians.


[PMID 28253304OA-icon.png] Bone mineral density is associated with vitamin D related rs6013897 and estrogen receptor polymorphism rs4870044: The Tromsø study.


[PMID 29528271] Genetic polymorphisms of vitamin D3 metabolizing CYP24A1 and CYP2R1 enzymes in Turkish patients with ischemic stroke.


[PMID 30716477OA-icon.png] No Association Between Vitamin D Status and Risk of Barrett's Esophagus or Esophageal Adenocarcinoma-a Mendelian Randomization Study.


[PMID 31625015OA-icon.png] Genetic Polymorphisms in the Vitamin D Pathway and Non-small Cell Lung Cancer Survival.


[PMID 31959263] Vitamin D related genes and cardiometabolic markers in healthy children: a Mendelian randomization study.