Annotation Detail

Information
Associated Genes
ESR2
Associated Variants
ESR2 c.535+520C>T ( ENST00000555278.5, ENST00000353772.7, ENST00000341099.6, ENST00000554572.5, ENST00000556275.5, ENST00000553796.5, ENST00000267525.10, ENST00000358599.9, ENST00000557772.5 )
ESR2 c.363-299T>C ( ENST00000557772.5, ENST00000267525.10, ENST00000358599.9, ENST00000553796.5, ENST00000556275.5, ENST00000555278.5, ENST00000341099.6, ENST00000554572.5, ENST00000353772.7 )
ESR2 c.-91+2334T>G ( ENST00000554572.5, ENST00000358599.9 )
ESR2 SNV ( ENST00000358599.9, ENST00000554572.5 )
rs3020450 ( ENST00000554572.5, ENST00000358599.9 )
ESR2 c.535+520C>T ( ENST00000267525.10, ENST00000341099.6, ENST00000353772.7, ENST00000358599.9, ENST00000553796.5, ENST00000554572.5, ENST00000555278.5, ENST00000556275.5, ENST00000557772.5 )
ESR2 c.363-299T>C ( ENST00000267525.10, ENST00000341099.6, ENST00000353772.7, ENST00000358599.9, ENST00000553796.5, ENST00000554572.5, ENST00000555278.5, ENST00000556275.5, ENST00000557772.5 )
ESR2 c.-91+2334T>G ( ENST00000358599.9, ENST00000554572.5 )
ESR2 SNV ( ENST00000358599.9, ENST00000554572.5 )
rs3020450 ( ENST00000358599.9, ENST00000554572.5 )
Associated Disease
ovarian carcinoma
Source Database
DisGeNET
Description
Unconditional logistic regression was used to test associations of rs1271572, rs1256030, rs1256031, and rs3020450 ESR2 genotypes with ovarian cancer risk.
Pubmed
18704709
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00325730246496364
Year of publication
2009
Drugs