Annotation Detail

Information
Associated Genes
ESR1
Associated Variants
CCDC170 c.1294-129G>A ( ENST00000239374.8 )
CCDC170 c.1294-129G>A ( ENST00000239374.8 )
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
For the first time, rs3757318 at 6q25.1, located next to the gene encoding estrogen receptor α (ESR1) was found to be strongly associated with breast cancer (OR=1.33, 95% CI=1.18-1.49, P=1.94 × 10(-6)) in the Chinese population.
Pubmed
23486537
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.08
Year of publication
2013
Drugs