Annotation Detail
Information
- Associated Genes
- VDR
- Associated Variants
-
VDR MUTATION
VDR MUTATION
VDR p.Ile352= (p.I352=) ( ENST00000229022.9, ENST00000550325.5, ENST00000549336.6, ENST00000395324.6 )
VDR c.1025-49G>T ( ENST00000550325.5, ENST00000549336.6, ENST00000395324.6, ENST00000229022.9 )
VDR c.1024+283G>A ( ENST00000395324.6, ENST00000549336.6, ENST00000550325.5, ENST00000229022.9 )
rs11568820 ( ENST00000395324.6 )
VDR p.Ile352= (p.I352=) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
VDR c.1025-49G>T ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
VDR c.1024+283G>A ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
rs11568820 ( ENST00000395324.6 ) - Associated Disease
- Epithelial ovarian cancer
- Source Database
- DisGeNET
- Description
- The association of ovarian cancer risk with polymorphisms in the vitamin D receptor (VDR) gene, including rs10735810 (FokI), rs11568820 (Cdx-2), rs1544410 (BsmI), rs7975232 (ApaI), rs731236 (TaqI), and BsmI-ApaI-TaqI combined genotypes, was examined among 313 women with epithelial ovarian carcinoma and 574 controls.
- Pubmed
- 18086759
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00345279946692324
- Year of publication
- 2007
Drugs