rs10741657
| Orientation | plus |
| Stabilized | plus |
| 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) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 14893332 |
| Gene | CYP2R1, LOC107984314 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10741657 |
| dbSNP (classic) | rs10741657 |
| ClinGen | rs10741657 |
| ebi | rs10741657 |
| HLI | rs10741657 |
| Exac | rs10741657 |
| Gnomad | rs10741657 |
| Varsome | rs10741657 |
| LitVar | rs10741657 |
| Map | rs10741657 |
| PheGenI | rs10741657 |
| Biobank | rs10741657 |
| 1000 genomes | rs10741657 |
| hgdp | rs10741657 |
| ensembl | rs10741657 |
| geneview | rs10741657 |
| scholar | rs10741657 |
| rs10741657 | |
| pharmgkb | rs10741657 |
| gwascentral | rs10741657 |
| openSNP | rs10741657 |
| 23andMe | rs10741657 |
| SNPshot | rs10741657 |
| SNPdbe | rs10741657 |
| MSV3d | rs10741657 |
| GWAS Ctlg | rs10741657 |
| GMAF | 0.3338 |
| Max Magnitude | 1.25 |
| ? | (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 20541252
]
[PMID 21431378] 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 20541252]
|
| 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 22583563] Genetic and environmental predictors of serum 25-hydroxyvitamin D concentrations among middle-aged and elderly Chinese in Singapore.
[PMID 22690899] Impaired Vitamin D Activation and Association with CYP24A1 Haplotypes in Differentiated Thyroid Carcinoma.
[PMID 22701574] 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 23734184] 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 22673963] Genome-wide association analysis of circulating vitamin D levels in children with asthma.
[PMID 22740028] 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 26448018] Variants in Vitamin D Binding Protein Gene Are Associated With Gestational Diabetes Mellitus
[PMID 27570856] Genetic influence on circulating vitamin D among Saudi Arabians.
[PMID 28253304] 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 30716477] No Association Between Vitamin D Status and Risk of Barrett's Esophagus or Esophageal Adenocarcinoma-a Mendelian Randomization Study.
[PMID 31625015] 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.
