Annotation Detail
Information
- Associated Genes
- ESR2
- Associated Variants
-
ESR2 c.*39G>A
(
ENST00000556275.5,
ENST00000553796.5,
ENST00000555278.5,
ENST00000353772.7,
ENST00000341099.6,
ENST00000554572.5,
ENST00000557772.5,
ENST00000267525.10,
ENST00000358599.9 )
ESR2 p.Val328= (p.V328=) ( ENST00000556275.5, ENST00000553796.5, ENST00000353772.7, ENST00000341099.6, ENST00000554572.5, ENST00000555278.5, ENST00000557772.5, ENST00000358599.9, ENST00000267525.10 )
ESR2 c.*39G>A ( ENST00000267525.10, ENST00000341099.6, ENST00000353772.7, ENST00000358599.9, ENST00000553796.5, ENST00000554572.5, ENST00000555278.5, ENST00000556275.5, ENST00000557772.5 )
ESR2 p.Val328= (p.V328=) ( ENST00000267525.10, ENST00000341099.6, ENST00000353772.7, ENST00000358599.9, ENST00000553796.5, ENST00000554572.5, ENST00000555278.5, ENST00000556275.5, ENST00000557772.5 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- The ESR2 rs4986938 and rs1256049 polymorphisms were described to present association with breast cancer, rheumatoid arthritis, and bone mineral density, however the association with IS has not been evaluated.
- Pubmed
- 25341980
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0682740013306265
- Year of publication
- 2015
Drugs