Annotation Detail
Information
- Associated Genes
- XRCC1
- Associated Variants
-
XRCC3 p.Thr241Met (p.T241M), KLC1 c.1849-1239G>A
(
ENST00000555836.5,
ENST00000554280.5,
ENST00000557450.5,
ENST00000348520.10,
ENST00000554913.5,
ENST00000553264.5,
ENST00000555055.6,
ENST00000352127.11,
ENST00000334553.11,
ENST00000554974.5,
ENST00000452929.6 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
EGFR c.559+585A>C ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000420316.6, ENST00000450046.2, ENST00000455089.5 )
EGFR c.1631+781C>T ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 )
XRCC3 p.Thr241Met (p.T241M), KLC1 c.1849-1239G>A ( ENST00000334553.11, ENST00000348520.10, ENST00000452929.6, ENST00000554280.5, ENST00000555836.5, ENST00000557450.5, ENST00000352127.11, ENST00000553264.5, ENST00000554913.5, ENST00000554974.5, ENST00000555055.6 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
EGFR c.559+585A>C ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000420316.6, ENST00000450046.2, ENST00000455089.5 )
EGFR c.1631+781C>T ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- Glioma
- Source Database
- DisGeNET
- Description
- Our comprehensive analysis of nine SNPs in eight genes suggests that the rs730437 and rs1468727 in ERGF, rs1799782 in XRCC1 gene, and rs861539 in XRCC3 gene are associated with glioma risk.
- Pubmed
- 23244079
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0210741150654046
- Year of publication
- 2012
Drugs