Annotation Detail
Information
- Associated Genes
- CYP2E1
- Associated Variants
-
CYP2E1 MUTATION
CYP2E1 MUTATION
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 ) - Associated Disease
- Leukemia, Lymphocytic, Acute, L1
- Source Database
- DisGeNET
- Description
- DNA repair XRCC1 Arg399Gln polymorphism alone, and in combination with CYP2E1 polymorphisms significantly contribute to the risk of development of childhood acute lymphoblastic leukemia.
- Pubmed
- 20394984
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00554838957344497
- Year of publication
- 2010
Drugs