Annotation Detail

Information
Associated Genes
ESR1
Associated Variants
rs13281615 ( ENST00000645438.1 )
rs13281615 ( ENST00000645438.1 )
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
In addition to confirming the association of the GG genotype of rs13281615 with breast cancer risk, we found that germline GG genotype was significantly associated with estrogen receptor (ER) positivity, higher tumor grade and higher proliferation index.
Pubmed
24780616
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.08
Year of publication
2014
Drugs