Annotation Detail
Information
- Associated Genes
- BHLHE22
- Associated Variants
-
ITGB3 p.Leu59Pro (p.L59P)
(
ENST00000559488.7,
ENST00000571680.1,
ENST00000696963.1 )
ITGB3 p.Leu59Pro (p.L59P) ( ENST00000559488.7, ENST00000571680.1, ENST00000696963.1 ) - Associated Disease
- ovarian carcinoma
- Source Database
- DisGeNET
- Description
- A functional Leu33Pro polymorphism (rs5918) in the beta(3) subunit of the integrin gene (ITGB3) has previously been suggested to act as a modifier of ovarian cancer risk in Polish BRCA1 mutation carriers.
- Pubmed
- 19876733
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
- Year of publication
- 2010
Drugs