Annotation Detail
Information
- Associated Genes
- LRIG1
- Associated Variants
-
BIVM-ERCC5 p.Asp1558His (p.D1558H), ERCC5 p.Asp1104His (p.D1104H)
(
ENST00000652613.1,
ENST00000652225.2,
ENST00000639435.1,
ENST00000639132.1 )
LIG1 p.Asp802= (p.D802=) ( ENST00000263274.12, ENST00000427526.6, ENST00000596549.6, ENST00000699866.1, ENST00000699868.1, ENST00000699871.1, ENST00000699874.1, ENST00000699875.1, ENST00000699877.1 )
LIG1 c.1822-131G>A ( ENST00000263274.12, ENST00000427526.6, ENST00000596549.6, ENST00000699866.1, ENST00000699868.1, ENST00000699871.1, ENST00000699874.1, ENST00000699875.1, ENST00000699877.1 )
LIG1 c.777-21A>G ( ENST00000263274.12, ENST00000427526.6, ENST00000596549.6, ENST00000699866.1, ENST00000699868.1, ENST00000699871.1, ENST00000699874.1, ENST00000699875.1, ENST00000699877.1 )
LIG1 c.-7C>T ( ENST00000263274.12, ENST00000427526.6, ENST00000596549.6, ENST00000699866.1, ENST00000699868.1, ENST00000699871.1, ENST00000699874.1, ENST00000699875.1, ENST00000699877.1 )
LIG1 c.-7C>G ( ENST00000263274.12, ENST00000427526.6, ENST00000596549.6, ENST00000699866.1, ENST00000699868.1, ENST00000699871.1, ENST00000699874.1, ENST00000699875.1, ENST00000699877.1 )
LIG1 c.-57-34A>G ( ENST00000263274.12, ENST00000427526.6, ENST00000596549.6, ENST00000699866.1, ENST00000699868.1, ENST00000699871.1, ENST00000699874.1, ENST00000699875.1, ENST00000699877.1 )
BIVM-ERCC5 p.Asp1558His (p.D1558H), ERCC5 p.Asp1104His (p.D1104H) ( ENST00000652225.2, ENST00000652613.1, ENST00000639132.1, ENST00000639435.1 )
LIG1 p.Asp802= (p.D802=) ( ENST00000263274.12, ENST00000427526.6, ENST00000596549.6, ENST00000699866.1, ENST00000699868.1, ENST00000699871.1, ENST00000699874.1, ENST00000699875.1, ENST00000699877.1 )
LIG1 c.1822-131G>A ( ENST00000263274.12, ENST00000427526.6, ENST00000596549.6, ENST00000699866.1, ENST00000699868.1, ENST00000699871.1, ENST00000699874.1, ENST00000699875.1, ENST00000699877.1 )
LIG1 c.777-21A>G ( ENST00000263274.12, ENST00000427526.6, ENST00000596549.6, ENST00000699866.1, ENST00000699868.1, ENST00000699871.1, ENST00000699874.1, ENST00000699875.1, ENST00000699877.1 )
LIG1 c.-7C>T ( ENST00000263274.12, ENST00000427526.6, ENST00000596549.6, ENST00000699866.1, ENST00000699868.1, ENST00000699871.1, ENST00000699874.1, ENST00000699875.1, ENST00000699877.1 )
LIG1 c.-7C>G ( ENST00000263274.12, ENST00000427526.6, ENST00000596549.6, ENST00000699866.1, ENST00000699868.1, ENST00000699871.1, ENST00000699874.1, ENST00000699875.1, ENST00000699877.1 )
LIG1 c.-57-34A>G ( ENST00000263274.12, ENST00000427526.6, ENST00000596549.6, ENST00000699866.1, ENST00000699868.1, ENST00000699871.1, ENST00000699874.1, ENST00000699875.1, ENST00000699877.1 ) - Associated Disease
- Malignant neoplasm of lung
- Source Database
- DisGeNET
- Description
- Among African Americans, His/His genotype of ERCC5 His1104Asp (rs17655) was associated with increased lung cancer risk (OR = 1.78; 95% CI: 1.09-2.91), and LIG1 haplotype GGGAA (rs20581, rs156641, rs3730931, rs20579 and rs439132) was associated with reduced lung cancer risk (OR = 0.61; 95% CI: 0.42-0.88).
- Pubmed
- 18709642
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2008
Drugs