Annotation Detail

Information
Associated Genes
ESR1
Associated Variants
NC_000006.12:g.151627231G>A
NC_000006.12:g.151627231G>A
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
SNP rs2046210 at 6q25.1, located upstream of the gene encoding estrogen receptor alpha (ESR1), showed strong and consistent association with breast cancer across all three stages.
Pubmed
19219042
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.24
Year of publication
2009
Drugs