Annotation Detail
Information
- Associated Genes
- SRD5A2
- Associated Variants
-
SRD5A2 p.Ala88= (p.A88=)
(
ENST00000622030.2 )
SRD5A2 p.Leu89Val (p.L89V) ( ENST00000622030.2 ) - Associated Disease
- Ovarian Diseases
- Source Database
- DisGeNET
- Description
- The Leu allele of the Val89Leu variant in SRD5A2 was associated with protection against PCOS; this allele is known to modestly reduce 5alpha-reductase activity.
- Pubmed
- 16849416
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2006
Drugs