Annotation Detail
Information
- Associated Genes
- PPP1R13L
- Associated Variants
-
ERCC2 c.1666-334G>C
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000684407.1 )
ERCC2 c.1666-643G>C ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
PPP1R13L c.-22+297T>C ( ENST00000360957.10, ENST00000418234.6 )
POLR1G c.170+179A>G ( ENST00000300853.8, ENST00000423698.6, ENST00000309424.8, ENST00000589804.1 )
POLR1G p.Lys261Thr (p.K261T) ( ENST00000300853.8, ENST00000423698.6, ENST00000309424.8, ENST00000589804.1 )
rs3212980 ( ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 )
ERCC1 c.526-641G>A ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 )
ERCC2 c.1666-334G>C ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 c.1666-643G>C ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
PPP1R13L c.-22+297T>C ( ENST00000360957.10, ENST00000418234.6 )
POLR1G c.170+179A>G ( ENST00000300853.8, ENST00000423698.6, ENST00000309424.8, ENST00000589804.1 )
POLR1G p.Lys261Thr (p.K261T) ( ENST00000300853.8, ENST00000423698.6, ENST00000309424.8, ENST00000589804.1 )
rs3212980 ( ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 )
ERCC1 c.526-641G>A ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 ) - Associated Disease
- Carcinoma of lung
- Source Database
- DisGeNET
- Description
- The haplotype ERCC2 rs3916874(G) and rs238415(C) [OR (95% CI)=1.26 (1.02-1.57), P=0.03] in block 1 and the haplotype PPP1R13L rs4803817(A), CD3EAP rs1046282(T), rs735482(C), ERCC1 rs3212980(A), rs3212964(G) [OR (95% CI)=3.56 (1.55-8.18), P=0.005] in block 3 were associated with lung cancer risk.
- Pubmed
- 24140460
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00244297684872273
- Year of publication
- 2013
Drugs