Annotation Detail
Information
- Associated Genes
- XRCC1
- Associated Variants
-
XRCC1 MUTATION
XRCC1 MUTATION
ERCC4 p.Arg415Gln (p.R415Q) ( ENST00000311895.8, ENST00000682617.1 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
ERCC4 p.Arg415Gln (p.R415Q) ( ENST00000311895.8, ENST00000682617.1 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 ) - Associated Disease
- breast fibrocystic disease
- Source Database
- DisGeNET
- Description
- Variant alleles of XRCC1 Arg(194)Trp (rs1799782) and ERCC4 Arg(415)Gln (rs1800067) were significantly associated with BBD [HR, 1.36; 95% confidence interval (95% CI), 1.06-1.74 and HR, 1.39; 95% CI, 1.09-1.76, respectively].
- Pubmed
- 19124519
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2009
Drugs