rs1799793, ERCC2

N. diseases: 72
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.080 GeneticVariation BEFREE Overall, the variant allele of Asp312Asn polymorphism was associated with an increased risk of bladder cancer (Asn/Asn vs. Asp/Asp: OR = 1.51, 95% CI = 1.19-1.91; Asp/Asn vs. Asp/Asp: OR = 1.23, 95% CI = 1.12-1.35; recessive model: OR = 1.33, 95% CI = 1.10-1.61; dominant model: OR = 1.32, 95% CI = 1.14-1.52; and allele comparing: OR = 1.26, 95% CI = 1.11-1.42). 24347488 2014
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.080 GeneticVariation BEFREE Among four DNA repair gene polymorphisms, the OGG1 326 Ser/Cys and XPD 312 Asp/Asn heterozygous genotypes might be recognized as potential genetic markers modifying susceptibility to bladder cancer in Belarus. 25089939 2014
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.080 GeneticVariation BEFREE For ERCC2 Asp312Asn, individuals with the Asn allele were associated with a 1.29-fold (95 % CI=1.13-1.48) increased risk of bladder cancer. 24504678 2014
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.080 GeneticVariation BEFREE These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive model) and rs1805794 in the NBN gene and bladder cancer (dominant model). 21864546 2012
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.080 GeneticVariation BEFREE Polymorphic variants of XPD, at codon 312 (rs1799793), 751 (rs13181) and promoter-114 (rs3810366), were chosen to be studied for their association with bladder cancer susceptibility in a central Taiwanese population. 19846926 2009
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.080 GeneticVariation BEFREE This meta-analysis suggested that the XPD Asp312Asn but not Lys751Gln polymorphism may be more genetically susceptible to bladder cancer development. 19492231 2009
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.080 GeneticVariation BEFREE Subtle but significant cancer risk was observed for the XPD Asp 312 Asn polymorphism in bladder cancer (for Asp/Asn versus Asp/Asp: OR, 1.24; 95% CI, 1.06-1.46). 18349268 2008
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.080 GeneticVariation BEFREE In multifactor dimensionality reduction (MDR) analysis, the five-factor model including smoking, CCNH V270A, ERCC6 M1097V, RAD23B A249V and XPD D312N had the best ability to predict bladder cancer risk. 17728339 2007