Annotation Detail
Information
- Associated Genes
- SRD5A1
- Associated Variants
-
POMC c.132+329A>C
(
ENST00000264708.7,
ENST00000380794.5,
ENST00000395826.7,
ENST00000405623.5 )
ADIPOQ c.214+62G>T ( ENST00000320741.7, ENST00000444204.2 )
SRD5A1 c.714-1393G>A ( ENST00000274192.7 )
POMC c.132+329A>C ( ENST00000264708.7, ENST00000380794.5, ENST00000395826.7, ENST00000405623.5 )
ADIPOQ c.214+62G>T ( ENST00000320741.7, ENST00000444204.2 )
SRD5A1 c.714-1393G>A ( ENST00000274192.7 ) - Associated Disease
- Ovarian Diseases
- Source Database
- DisGeNET
- Description
- Three variants, rs3797179 (SRD5A1), rs12473543 (POMC), and rs1501299 (ADIPOQ), were nominally associated with PCOS.
- Pubmed
- 23375202
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2013
Drugs