Annotation Detail
Information
- Associated Genes
- ESR1
- Associated Variants
-
ESR1 c.453-351A>G
(
ENST00000206249.8,
ENST00000338799.9,
ENST00000406599.5,
ENST00000427531.6,
ENST00000440973.5,
ENST00000443427.5,
ENST00000456483.3 )
ESR1 c.453-351A>G ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 ) - Associated Disease
- endometriosis
- Source Database
- DisGeNET
- Description
- ESR1 rs9340799 is associated with endometriosis-related infertility and in vitro fertilization failure.
- Pubmed
- 24427778
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0638670872004259
- Year of publication
- 2014
Drugs