Annotation Detail

Information
Associated Genes
MTR
Associated Variants
BIVM-ERCC5 p.Asp1558His (p.D1558H), ERCC5 p.Asp1104His (p.D1104H) ( ENST00000652613.1, ENST00000652225.2, ENST00000639435.1, ENST00000639132.1 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000681177.1, ENST00000681102.1, ENST00000679842.1, ENST00000674797.2 )
XPA c.-4A>G ( ENST00000375128.5 )
XPA c.-4A>C ( ENST00000375128.5 )
BIVM-ERCC5 p.Asp1558His (p.D1558H), ERCC5 p.Asp1104His (p.D1104H) ( ENST00000652225.2, ENST00000652613.1, ENST00000639132.1, ENST00000639435.1 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000681177.1 )
XPA c.-4A>G ( ENST00000375128.5 )
XPA c.-4A>C ( ENST00000375128.5 )
Associated Disease
lymphoma
Source Database
DisGeNET
Description
Herein we performed a case-control study evaluating the influence of three single nucleotide polymorphisms (SNPs) in XPA, ERCC5 and MTR [rs1800975 (G-4A), rs17655 (Asp1104His) and rs1805087 (A2756G), respectively] in lymphoma risk.
Pubmed
23818366
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.135559401232014
Year of publication
2013
Drugs