Annotation Detail
Information
- Associated Genes
- ESR2
- Associated Variants
-
rs1255998
(
ENST00000554572.5,
ENST00000353772.7,
ENST00000556275.5 )
ESR2 SNV ( ENST00000556275.5, ENST00000554572.5, ENST00000353772.7 )
ESR2 c.1407-4A>G ( ENST00000553796.5, ENST00000556275.5, ENST00000555278.5, ENST00000341099.6, ENST00000554572.5, ENST00000353772.7, ENST00000557772.5, ENST00000267525.10, ENST00000358599.9 )
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 )
rs1255998 ( ENST00000353772.7, ENST00000554572.5, ENST00000556275.5 )
ESR2 SNV ( ENST00000353772.7, ENST00000554572.5, ENST00000556275.5 )
ESR2 c.1407-4A>G ( ENST00000267525.10, ENST00000341099.6, ENST00000353772.7, ENST00000358599.9, ENST00000553796.5, ENST00000554572.5, ENST00000555278.5, ENST00000556275.5, ENST00000557772.5 )
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
- endometrial carcinoma
- Source Database
- DisGeNET
- Description
- Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998 and rs944050) polymorphisms may be associated with an increased risk of developing endometrial cancer.
- Pubmed
- 19438492
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00217153497664243
- Year of publication
- 2009
Drugs