Annotation Detail
Information
- Associated Genes
- ESR1
- Associated Variants
-
NC_000006.12:g.151627231G>A
ESR1 p.Pro325= (p.P325=) ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000456483.3, ENST00000440973.5, ENST00000443427.5 )
ESR1 c.1096+5029C>T ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
NC_000006.12:g.151627231G>A
ESR1 p.Pro325= (p.P325=) ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
ESR1 c.1096+5029C>T ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed stronger associations in ER-positive than in ER-negative breast cancer in only EA women.
- Pubmed
- 25228414
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.08
- Year of publication
- 2015
Drugs