Annotation Detail
Information
- Associated Genes
- CYP21A2
- Associated Variants
-
CYP21A2 p.Val282Met (p.V282M)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Met (p.V282M) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- polycystic ovary syndrome
- Source Database
- DisGeNET
- Description
- Lack of association between CYP21 V281L variant and polycystic ovary syndrome in Italian women.
- Pubmed
- 20201644
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00908706543215305
- Year of publication
- 2010
Drugs