Annotation Detail

Information
Associated Genes
ADH1B
Associated Variants
ALDH2 p.Glu504Lys (p.E504K) ( ENST00000261733.7, ENST00000416293.7 )
ADH1B p.His48Arg (p.H48R) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 )
rs1789924
HELQ p.Val306Ile (p.V306I) ( ENST00000295488.8, ENST00000510985.1 )
ALDH2 p.Glu504Lys (p.E504K) ( ENST00000261733.7, ENST00000416293.7 )
HELQ p.Val306Ile (p.V306I) ( ENST00000295488.8, ENST00000510985.1 )
ADH1B p.His48Arg (p.H48R) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 )
rs1789924
Associated Disease
Squamous cell carcinoma of esophagus
Source Database
DisGeNET
Description
We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4q21 [odds ratio (OR) = 1.15, 95 % confidence interval (CI) = 1.05-1.26], rs1229984 in ADH1B at 4q23 (OR = 1.24, 95 % CI = 1.13-1.36) and rs1789924 near ADH1C at 4q23 (OR = 1.20, 95 % CI = 1.03-1.39), and rs671 in ALDH2 at 12q24 (OR = 0.83, 95 % CI = 0.75-0.91).
Pubmed
23430454
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.124343069953285
Year of publication
2013
Drugs