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 c.*39G>A ( ENST00000267525.10, ENST00000341099.6, ENST00000353772.7, ENST00000358599.9, ENST00000553796.5, ENST00000554572.5, ENST00000555278.5, ENST00000556275.5, ENST00000557772.5 )
Associated Disease
bile duct carcinoma
Source Database
DisGeNET
Description
Also, the ESR2 rs4986938 (38 bp 3' of STP) GG genotype was associated with a higher risk of bile duct cancer (OR = 3.3, 95% CI 1.3-8.7) compared with the AA genotype, although this estimate was based on a small number of subjects.
Pubmed
20172949
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2010
Drugs