Annotation Detail
Information
- Associated Genes
- ESR1
- Associated Variants
-
ESR1 c.453-397T>C
(
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 )
ESR1 c.453-397T>C ( 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
- Myocardial Ischemia
- Source Database
- DisGeNET
- Description
- Variations in the -397T>C (rs2234693) and -351A>G (rs9340799) single nucleotide polymorphisms of the estrogen alpha receptor (ESR1) gene were found to be strongly associated with risk of ischemic heart disease, although not all studies could replicate this finding.
- Pubmed
- 18309176
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00345279946692324
- Year of publication
- 2008
Drugs