Annotation Detail

Information
Associated Genes
ESR1
Associated Variants
rs11249433
rs11249433
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
A recent genome-wide association study (GWAS) has identified a single nucleotide polymorphism (SNP) rs11249433 in the 1p11.2 region as a novel genetic risk factor for breast cancer, and this association was stronger in patients with estrogen receptor (ER)+ versus ER- cancer.
Pubmed
20482849
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.08
Year of publication
2010
Drugs