Annotation Detail

Information
Associated Genes
XRCC6
Associated Variants
DESI1 c.88+4792T>C ( ENST00000263256.7 )
XRCC6 p.Gly593= (p.G593=) ( ENST00000359308.8, ENST00000360079.8, ENST00000402580.7, ENST00000405506.2, ENST00000405878.5, ENST00000428575.6 )
XRCC6 p.Gly593= (p.G593=) ( ENST00000359308.8, ENST00000360079.8, ENST00000402580.7, ENST00000405506.2, ENST00000405878.5, ENST00000428575.6 )
rs132793
XRCC5 c.-347+311G>T ( ENST00000392133.7 )
XRCC5 c.2110-2408G>A ( ENST00000392132.7, ENST00000392133.7 )
DESI1 c.88+4792T>C ( ENST00000263256.7 )
XRCC6 p.Gly593= (p.G593=) ( ENST00000359308.8, ENST00000360079.8, ENST00000402580.7, ENST00000405506.2, ENST00000405878.5, ENST00000428575.6 )
XRCC6 p.Gly593= (p.G593=) ( ENST00000359308.8, ENST00000360079.8, ENST00000402580.7, ENST00000405506.2, ENST00000405878.5, ENST00000428575.6 )
rs132793
XRCC5 c.-347+311G>T ( ENST00000392133.7 )
XRCC5 c.2110-2408G>A ( ENST00000392132.7, ENST00000392133.7 )
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 gene, rs6002421 (A>G), rs132788 (G>T) and rs132793 (G>A) in XRCC6 gene might be risk factors for breast cancer, while the rs132788 (G>T) and rs6002421 (A>G) in XRCC6 gene might be protective.
Pubmed
23098447
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00271441872080303
Year of publication
2012
Drugs