Annotation Detail
Information
- Associated Genes
- CYP19A1
- Associated Variants
-
CYP19A1 p.Arg264Cys (p.R264C)
(
ENST00000396404.8,
ENST00000559878.5,
ENST00000396402.6 )
CYP19A1 p.Arg264Cys (p.R264C) ( ENST00000396402.6, ENST00000396404.8, ENST00000559878.5 ) - Associated Disease
- Ovarian Diseases
- Source Database
- DisGeNET
- Description
- The Arg(264)Cys variant of CYP19A1 (rs700519) is associated with PCOS (P= 0.004, corrected P = 0.02).
- Pubmed
- 21282199
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.123257302464964
- Year of publication
- 2011
Drugs