rs12785878
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | Common/normal |
| (G;T) | 1.5 | slightly increased (1.2x) risk for vitamin D insufficiency |
| (T;T) | 1.8 | slightly increased (1.4x) risk for vitamin D insufficiency |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 71456403 |
| Gene | NADSYN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12785878 |
| dbSNP (classic) | rs12785878 |
| ClinGen | rs12785878 |
| ebi | rs12785878 |
| HLI | rs12785878 |
| Exac | rs12785878 |
| Gnomad | rs12785878 |
| Varsome | rs12785878 |
| LitVar | rs12785878 |
| Map | rs12785878 |
| PheGenI | rs12785878 |
| Biobank | rs12785878 |
| 1000 genomes | rs12785878 |
| hgdp | rs12785878 |
| ensembl | rs12785878 |
| geneview | rs12785878 |
| scholar | rs12785878 |
| rs12785878 | |
| pharmgkb | rs12785878 |
| gwascentral | rs12785878 |
| openSNP | rs12785878 |
| 23andMe | rs12785878 |
| SNPshot | rs12785878 |
| SNPdbe | rs12785878 |
| MSV3d | rs12785878 |
| GWAS Ctlg | rs12785878 |
| GMAF | 0.4715 |
| Max Magnitude | 1.8 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
| This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
|
rs12785878, located near the 7-dehydrocholesterol reductase DHCR7 gene on chromosome 11q12, 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 rs12785878(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 rs12785878(T;T) individuals.10.1016/S0140-6736(10)60588-0
A near-perfect proxy (i.e. substitute) for rs12785878 appears to be rs7944926.
| 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 | 2E-27 |
| Odds Ratio | None None |
[PMID 22130326] ANKRD55 and DHCR7 are novel multiple sclerosis risk loci
[PMID 22613962] Genetic Influences on Vitamin D Status and Forearm Fracture Risk in African American Children.
[PMID 22701574] Instrumental variable estimation of the causal effect of plasma 25-hydroxy-vitamin D on colorectal cancer risk: a mendelian randomization analysis
[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 23979957] Association between vitamin D metabolism gene polymorphisms and risk of islet autoimmunity and progression to type 1 diabetes: the diabetes autoimmunity study in the young (DAISY)
[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 25906790] Determinants of serum 25(OH)D concentration in young and middle-aged adults. The Cardiovascular Risk in Young Finns Study
[PMID 26149120] Vitamin D Deficiency in Uygurs and Kazaks Is Associated with Polymorphisms in CYP2R1 and DHCR7/NADSYN1 Genes
[PMID 30716477] No Association Between Vitamin D Status and Risk of Barrett's Esophagus or Esophageal Adenocarcinoma-a Mendelian Randomization Study.
[PMID 31959263] Vitamin D related genes and cardiometabolic markers in healthy children: a Mendelian randomization study.
[PMID 33245439] A mendelian randomization study on causal effects of 25(OH)vitamin D levels on attention deficit/hyperactivity disorder.
