rs3847987
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs3847987(A;A) |
| Make rs3847987(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 47844285 |
| Gene | VDR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3847987 |
| dbSNP (classic) | rs3847987 |
| ClinGen | rs3847987 |
| ebi | rs3847987 |
| HLI | rs3847987 |
| Exac | rs3847987 |
| Gnomad | rs3847987 |
| Varsome | rs3847987 |
| LitVar | rs3847987 |
| Map | rs3847987 |
| PheGenI | rs3847987 |
| Biobank | rs3847987 |
| 1000 genomes | rs3847987 |
| hgdp | rs3847987 |
| ensembl | rs3847987 |
| geneview | rs3847987 |
| scholar | rs3847987 |
| rs3847987 | |
| pharmgkb | rs3847987 |
| gwascentral | rs3847987 |
| openSNP | rs3847987 |
| 23andMe | rs3847987 |
| SNPshot | rs3847987 |
| SNPdbe | rs3847987 |
| MSV3d | rs3847987 |
| GWAS Ctlg | rs3847987 |
| GMAF | 0.1478 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
rs3847987 in the vitamin D pathway was associated with the time to onset of COPD. The SNP is a cytosine-to-adenine switch, and men with two copies of the adenine variant were more likely to develop COPD. The hazard ratio was 1.60, with a 95% confidence interval from 1.26 to 2.05, which was significant at P=0.005. news
[PMID 17130574] Protection from type 1 diabetes by vitamin D receptor haplotypes.
[PMID 18593774
] Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans.
[PMID 27736940] Vitamin D Receptor Gene Polymorphism and the Risk of Colorectal Cancer: A Nested Case-Control Study.
| ClinVar | |
|---|---|
| Risk | rs3847987(A;A) |
| Alt | rs3847987(A;A) |
| Reference | Rs3847987(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Vitamin D-Dependent Rickets |
| Variation | info |
| Gene | VDR |
| CLNDBN | Vitamin D-Dependent Rickets |
| Reversed | 0 |
| HGVS | NC_000012.11:g.48238068C>A |
| CLNSRC | |
| CLNACC | RCV000325971.1, |
[PMID 30683435] Serum vitamin D deficiency and vitamin D receptor gene polymorphism are associated with increased risk of cardiovascular disease in a Chinese rural population.
