Annotation Detail

Information
Associated Genes
ESR1
Associated Variants
CCDC170 c.*68A>C ( ENST00000239374.8 )
rs9383938
CCDC170 c.*68A>C ( ENST00000239374.8 )
rs9383938
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
We also identified two variants (rs3734805 and rs9383938) mapping to 6q25.1 estrogen receptor 1 (ESR1), which were associated with breast cancer in subjects of northern European ancestry (rs3734805: OR = 1.19, 95% CI = 1.11 to 1.27, P = 1.35 × 10(-7); rs9383938: OR = 1.18, 95% CI = 1.11 to 1.26, P = 1.41 × 10(-7)).
Pubmed
21263130
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.24
Year of publication
2011
Drugs