Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C0005695
Disease:
Bladder Neoplasm
0.080 GeneticVariation BEFREE We found the Lys751Gln was associated with increased bladder cancer risk only under the recessive model (OR = 1.14, 95% CI = 1.01-1.29). 24347488 2014
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C0005695
Disease:
Bladder Neoplasm
0.080 GeneticVariation BEFREE For ERCC2 Lys751Gln, individuals who carried the variant heterozygote Lys/Gln or homozygote Gln/Gln had a significantly increased bladder cancer risk, compared with the wild genotype Lys/Lys (OR=1.10, 95 % CI=1.03-1.18). 24504678 2014
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C0005695
Disease:
Bladder Neoplasm
0.080 GeneticVariation BEFREE The current meta-analysis indicated that the Lys751Gln polymorphism in the XPD gene might be a risk factor for bladder cancer. 24535265 2014
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0005695
Disease:
Bladder Neoplasm
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
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0005695
Disease:
Bladder Neoplasm
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
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0005695
Disease:
Bladder Neoplasm
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
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C0005695
Disease:
Bladder Neoplasm
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
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0005695
Disease:
Bladder Neoplasm
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
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C0005695
Disease:
Bladder Neoplasm
0.080 GeneticVariation BEFREE In this work, we have conducted a case-control study in order to assess the effect of tobacco and three genetic polymorphisms in XPC, ERCC2 and ERCC5 genes (rs2228001, rs13181 and rs17655) in bladder cancer development in Tunisia. 21426550 2011
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C0005695
Disease:
Bladder Neoplasm
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
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C0005695
Disease:
Bladder Neoplasm
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
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0005695
Disease:
Bladder Neoplasm
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
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0005695
Disease:
Bladder Neoplasm
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
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0005695
Disease:
Bladder Neoplasm
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
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C0005695
Disease:
Bladder Neoplasm
0.080 GeneticVariation BEFREE We found that the A allele of XPD Arg156Arg (C22541A) and the C allele of XPD Lys751Gln (A35931C) is associated with increased risk of bladder cancer (adjusted odds ratio = 1.54 and 95% confidence interval = 1.19-2.01, 1.65, and 1.12-2.73, respectively). 17693188 2007
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0005695
Disease:
Bladder Neoplasm
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
dbSNP: rs3810366
rs3810366
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0005695
Disease:
Bladder Neoplasm
0.010 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
dbSNP: rs776223836
rs776223836
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0005695
Disease:
Bladder Neoplasm
0.010 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