Annotation Detail
Information
- Associated Genes
- XRCC1
- Associated Variants
-
rs3213245
(
ENST00000543982.5 )
PARP1 p.Val762Ala (p.V762A) ( ENST00000366794.10, ENST00000677203.1 )
MBD4 p.Glu346Lys (p.E346K) ( ENST00000249910.5, ENST00000393278.6, ENST00000429544.7, ENST00000503197.5, ENST00000507208.1 )
rs3213245 ( ENST00000543982.5 )
PARP1 p.Val762Ala (p.V762A) ( ENST00000366794.10, ENST00000677203.1 )
MBD4 p.Glu346Lys (p.E346K) ( ENST00000249910.5, ENST00000393278.6, ENST00000429544.7, ENST00000503197.5, ENST00000507208.1 ) - Associated Disease
- Squamous cell carcinoma of esophagus
- Source Database
- DisGeNET
- Description
- In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) and others in noncoding regions (LIG3 A3704G and XRCC1 T-77C), remained as significant predictors for the risk of ESCC.
- Pubmed
- 15205355
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.122714418720803
- Year of publication
- 2004
Drugs