Annotation Detail
Information
- Associated Genes
- GC
- Associated Variants
-
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+443G>A ( ENST00000550325.5, ENST00000395324.6, ENST00000549336.6, ENST00000229022.9 )
VDR c.277+3260C>T ( ENST00000395324.6, ENST00000549336.6, ENST00000550325.5, ENST00000229022.9 )
CYP27B1 c.1137-29T>C ( ENST00000228606.9, ENST00000713544.1, ENST00000713545.1, ENST00000546567.5 )
CYP24A1 c.*10+967A>G ( ENST00000216862.8, ENST00000395954.3, ENST00000395955.7 )
GC p.Asp451Glu (p.D451E) ( ENST00000273951.13, ENST00000504199.5, ENST00000513476.5 )
GC c.115+6190A>G ( ENST00000273951.13, ENST00000504199.5, ENST00000513476.5 )
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+443G>A ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
VDR c.277+3260C>T ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
CYP27B1 c.1137-29T>C ( ENST00000228606.9, ENST00000546567.5, ENST00000713544.1, ENST00000713545.1 )
CYP24A1 c.*10+967A>G ( ENST00000216862.8, ENST00000395954.3, ENST00000395955.7 )
GC p.Asp451Glu (p.D451E) ( ENST00000273951.13, ENST00000504199.5, ENST00000513476.5 )
GC c.115+6190A>G ( ENST00000273951.13, ENST00000504199.5, ENST00000513476.5 ) - Associated Disease
- melanoma
- Source Database
- DisGeNET
- Description
- In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis.
- Pubmed
- 22576141
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2012
Drugs