Annotation Detail

Information
Associated Genes
TOX3
Associated Variants
RAD51B c.1037-43041C>T ( ENST00000487270.5, ENST00000488612.5, ENST00000487861.5 )
rs3803662
BABAM1 p.Lys279= (p.K279=), ENSG00000269307 c.*400+1986G>A ( ENST00000359435.8, ENST00000447614.6, ENST00000595632.5, ENST00000598188.6, ENST00000601043.5 )
ANKLE1 p.Ala31Thr (p.A31T), ENSG00000269307 c.*424G>A ( ENST00000394458.7, ENST00000404085.7, ENST00000594072.6, ENST00000652132.1 )
CCDC170 c.1710+1144T>G ( ENST00000239374.8 )
NC_000006.12:g.151627231G>A
RAD51B c.1037-43041C>T ( ENST00000487270.5, ENST00000487861.5, ENST00000488612.5 )
rs3803662
BABAM1 p.Lys279= (p.K279=), ENSG00000269307 c.*400+1986G>A ( ENST00000359435.8, ENST00000447614.6, ENST00000595632.5, ENST00000598188.6, ENST00000601043.5 )
ANKLE1 p.Ala31Thr (p.A31T), ENSG00000269307 c.*424G>A ( ENST00000394458.7, ENST00000404085.7, ENST00000594072.6, ENST00000652132.1 )
CCDC170 c.1710+1144T>G ( ENST00000239374.8 )
NC_000006.12:g.151627231G>A
Associated Disease
Triple Negative Breast Neoplasms
Source Database
DisGeNET
Description
We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs3803662 (TOX3), rs999737 (RAD51L1), rs8170 (19p13.1), and rs8100241 (19p13.1), significantly associated with the risk of triple-negative breast cancer.
Pubmed
21844186
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2011
Drugs