VDR
From SNPedia
is a | gene |
is | mentioned by |
Full name | vitamin D (1,25- dihydroxyvitamin D3) receptor |
EntrezGene | 7421 |
PheGenI | 7421 |
VariationViewer | 7421 |
ClinVar | VDR |
GeneCards | VDR |
dbSNP | 7421 |
Diseases | VDR |
SADR | 7421 |
HugeNav | 7421 |
wikipedia | VDR |
VDR | |
gopubmed | VDR |
EVS | VDR |
HEFalMp | VDR |
MyGene2 | VDR |
23andMe | VDR |
UniProt | P11473 |
Ensembl | ENSG00000111424 |
OMIM | 601769 |
# SNPs | 64 |
VDR may also refer to CYP27B1.
The VDR gene encodes the vitamin D receptor, and variants have been reported to influence bone mineral density (and thus risk of fractures or osteoporosis), vitamin D-dependent rickets type II, and hyperparathyroidism, among other disorders (see OMIM for other rare variants). Several reported studies of VDR SNPs may be population specific since they have not been replicated.
SNPs in this gene include:
- rs2107301 and rs2238135, both associated with prostate cancer risk [PMID 17932346]
- rs1544410 associated with low bone mineral density and osteoporosis [PMID 8845602] & [PMID 23134477].