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.453-397T>C ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 ) - Associated Disease
- Coronary heart disease
- Source Database
- DisGeNET
- Description
- Qualitative assessment of previous evidence and an updated meta-analysis confirms lack of association between the ESR1 rs2234693 (PvuII) variant and coronary heart disease in men and women.
- Pubmed
- 19608186
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0187070830868026
- Year of publication
- 2009
Drugs