Annotation Detail

Information
Associated Genes
ERBB2
Associated Variants
CYP19A1 c.*161T>G ( ENST00000396404.8, ENST00000396402.6, ENST00000559878.5 )
CYP19A1 c.*19C>T ( ENST00000396404.8, ENST00000396402.6, ENST00000559878.5 )
CYP19A1 c.*161T>G ( ENST00000396402.6, ENST00000396404.8, ENST00000559878.5 )
CYP19A1 c.*19C>T ( ENST00000396402.6, ENST00000396404.8, ENST00000559878.5 )
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
SNPs rs10046 and rs4646 may influence the HER2 status of breast cancer tumors, and rs10046 genotypes are associated with an altered DFS.
Pubmed
18049890
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.08
Year of publication
2008
Drugs