Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799782
rs1799782
0.020 GeneticVariation BEFREE The aim of this study was to examine the associations between the combined effects of urinary 8-Hydroxydeoxyguanine (8-OHdG) level and polymorphisms of XRCC1 Arg194Trp and XRCC1 Arg399Gln on the risk of urothelial carcinoma (UC). 25938407

2015

dbSNP: rs25487
rs25487
0.020 GeneticVariation BEFREE Participants with the XRCC1 (Arg399Gln) Gln/Gln genotype or the G-C/A-C haplotype of XRCC1 and a high urinary 8-OHdG level had a significantly higher risk of UC than those with the Arg/Arg + Arg/Gln genotype or the G-T haplotype and a low urinary 8-OHdG level. 25938407

2015

dbSNP: rs1799782
rs1799782
0.020 GeneticVariation BEFREE The XRCC1 399 Gln/Gln and 194 Arg/Trp and Trp/Trp genotypes were significantly related to UC, and the odds ratio (OR) and 95% confidence interval (95%CI) were 1.68 (1.03-2.75) and 0.66 (0.48-0.90), respectively. 25018058

2014

dbSNP: rs25487
rs25487
0.020 GeneticVariation BEFREE XRCC1 Arg194Trp and Arg399Gln polymorphisms and arsenic methylation capacity are associated with urothelial carcinoma. 25018058

2014

dbSNP: rs967815855
rs967815855
0.010 GeneticVariation BEFREE We also determined the presence of a HER3-E332K mutation in an urothelial carcinoma sample, and two HER3-D297Y mutations, in both gastric adenocarcinoma and CRC specimens. 26287187

2015

dbSNP: rs13181
rs13181
0.010 GeneticVariation BEFREE The aim of this study was to examine the association between polymorphisms of the DNA repair genes, XRCC1 Arg194Trp, XRCC1 Arg399Gln, XRCC3 Thr241Met, and XPD Lys751Gln, with urinary arsenic profiles and UC. 25018058

2014

dbSNP: rs759412116
rs759412116
0.010 GeneticVariation BEFREE XRCC1 Arg194Trp and Arg399Gln polymorphisms and arsenic methylation capacity are associated with urothelial carcinoma. 25018058

2014

dbSNP: rs861539
rs861539
0.010 GeneticVariation BEFREE The aim of this study was to examine the association between polymorphisms of the DNA repair genes, XRCC1 Arg194Trp, XRCC1 Arg399Gln, XRCC3 Thr241Met, and XPD Lys751Gln, with urinary arsenic profiles and UC. 25018058

2014

dbSNP: rs9642880
rs9642880
0.010 GeneticVariation BEFREE Our results strongly suggest that the T/T rs9642880 genotype is a risk factor for upper urinary tract urothelial carcinoma, as previously shown for bladder tumors. 22177160

2012

dbSNP: rs201436651
rs201436651
0.010 GeneticVariation BEFREE Thrombomodulin, uroplakin III, p63, and S100P are useful markers for urothelial carcinoma. 21204715

2011

dbSNP: rs121434592
rs121434592
0.010 GeneticVariation BEFREE Using chip-based matrix-assisted laser desorption-time-of-flight (MALDI-TOF) mass spectrometer, AKT1 E17K mutation was searched in 26 total RNA samples obtained from 26 patients known to have urothelial carcinoma. 19389506

2009

dbSNP: rs577715207
rs577715207
0.010 GeneticVariation BEFREE Placental S100 (S100P) and GATA3: markers for transitional epithelium and urothelial carcinoma discovered by complementary DNA microarray. 17460449

2007

dbSNP: rs758272654
rs758272654
0.010 GeneticVariation BEFREE To assess the role of the GNAS1 locus encoding G(alpha)s as a genetic factor for disease progression of transitional cell carcinoma (TCC) of the bladder, we genotyped the synonymous T393C polymorphism in 254 patients with TCC (minor allele frequency: 0.43) to examine a potential association between genotypes and disease progression. 15824158

2005

dbSNP: rs4986984
rs4986984
0.010 GeneticVariation BEFREE A single transitional cell carcinoma (0.8%) without microsatellite instability had an hMLH1 missense mutation with a C-to-T transition, resulting in the substitution Arg217 --> Cys. 11342971

2001