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
- Carcinoma, Endometrioid
- Source Database
- DisGeNET
- Description
- [We found that intronic variation in ESR1 was associated with endometrial cancer risk.]
- Pubmed
- 18990228
- Original source reporting the Gene Disease association
- GAD
- DisGENET score for the Gene Disease association
- 0.00753435906979193
- Year of publication
- 2008
Drugs