Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913483
rs121913483
0.820 GeneticVariation BEFREE PATIENT SUMMARY: We propose that APOBEC-mediated mutagenesis can generate clinically relevant driver mutations even within suboptimal motifs, such as in the case of FGFR3 S249C, one of the most common mutations in bladder cancer. 30975452

2019

dbSNP: rs121913483
rs121913483
0.820 GeneticVariation BEFREE Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer. 17384684

2007

dbSNP: rs121913483
rs121913483
0.820 GeneticVariation UNIPROT Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. 11314002

2001

dbSNP: rs121913483
rs121913483
0.820 GeneticVariation UNIPROT Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999

dbSNP: rs121913483
rs121913483
G 0.820 CausalMutation CLINVAR

dbSNP: rs2294008
rs2294008
PSCA ; JRK
0.800 GeneticVariation BEFREE Cumulative evidence of an association was graded as strong for rs2294008 [odds ratio (OR) = 1.32, P = 5.1 × 10-33], rs2976392 (OR = 1.29, P = 1.8 × 10-8), rs9297976 (OR = 0.75, P = 1.4 × 10-7), rs2976391 (OR = 1.38, P = 6.1 × 10-5) and rs138377917 (OR = 0.53, P = 0.008) with gastric cancer, rs2294008 with bladder cancer (OR = 1.15, P = 8.0 × 10-19), gastritis (OR = 1.35, P = 1.2 × 10-5), duodenal ulcer (OR = 0.68, P = 2.4 × 10-57) and gastric ulcer (OR = 0.88, P = 1.7 × 10-7). 30407486

2019

dbSNP: rs2294008
rs2294008
PSCA ; JRK
0.800 GeneticVariation BEFREE Our meta-analysis supports that the PSCA gene variant rs2294008 polymorphism might contribute to individual susceptibility to bladder cancer. 31008939

2019

dbSNP: rs2294008
rs2294008
PSCA ; JRK
0.800 GeneticVariation BEFREE For the PSCA rs2294008 polymorphism, when stratified by type of cancer, the results were significant especially in gastric cancer and bladder cancer. 28881685

2017

dbSNP: rs2294008
rs2294008
PSCA ; JRK
0.800 GeneticVariation BEFREE Based on the statistical evidence, we can draw a conclusion that the rs2294008 polymorphism of PSCA gene is likely to play a role in cancer carcinogenesis, especially in gastric cancer and bladder cancer. 26308216

2015

dbSNP: rs2294008
rs2294008
PSCA ; JRK
0.800 GeneticVariation BEFREE Overall, seven of the 14 variants were significantly associated with bladder cancer risk (p = 9.763 × 10(-3) for rs9642880 at 8q24.21, p = 3.004 × 10(-3) for rs2294008 at 8q24.3, p = 0.012 for rs798766 at 4p16.3, p = 0.034 for rs1495741 at 8p22, p = 2.306 × 10(-4) for GSTM1, p = 8.507 × 10(-8) for rs17674580 at 18q12.3, p = 7.179 × 10(-4) for rs10936599 at 3q26.2) and the odds ratios (ORs) ranged from 1.13 to 1.65. 24740636

2014

dbSNP: rs2294008
rs2294008
PSCA ; JRK
0.800 GeneticVariation BEFREE In conclusion, the results suggest that the PSCA rs2294008 (C>T) polymorphism is a risk factor for bladder cancer development. 25117309

2014

dbSNP: rs2294008
rs2294008
PSCA ; JRK
0.800 GeneticVariation BEFREE Our study showed that the rs2294008 polymorphism in the PSCA gene is associated with the risk of bladder cancer in a Korean population, providing evidence that it may contribute to bladder carcinogenesis regardless of ethnicity. 25374226

2014

dbSNP: rs2294008
rs2294008
PSCA ; JRK
0.800 GeneticVariation BEFREE The study suggests that anti-PSCA immunotherapy might be beneficial for bladder cancer patients with high tumor PSCA expression, which is statistically significantly associated with the presence of CT and TT genotypes of a common genetic variant, rs2294008. 23266392

2013

dbSNP: rs2294008
rs2294008
PSCA ; JRK
0.800 GeneticVariation BEFREE In conclusion, a joint effect of two PSCA SNPs, rs2294008 and rs2978974, suggests that both variants may be important for bladder cancer susceptibility, possibly through different mechanisms that influence the control of mRNA expression and interaction with regulatory factors. 22416122

2012

dbSNP: rs2294008
rs2294008
PSCA ; JRK
T 0.800 GeneticVariation GWASDB A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. 20972438

2010

dbSNP: rs2294008
rs2294008
PSCA ; JRK
0.800 GeneticVariation BEFREE These results indicated that the rs2294008 polymorphism of PSCA gene may play a role in bladder cancer carcinogenesis and it could be served as a biomarker for genetic susceptibility to bladder cancer in Chinese populations. 20083643

2010

dbSNP: rs2294008
rs2294008
PSCA ; JRK
T 0.800 GeneticVariation GWASDB Our data identify rs2294008 as a new bladder cancer susceptibility locus. 19648920

2009

dbSNP: rs2294008
rs2294008
PSCA ; JRK
0.800 GeneticVariation BEFREE Our data identify rs2294008 as a new bladder cancer susceptibility locus. 19648920

2009

dbSNP: rs121913482
rs121913482
0.800 GeneticVariation UNIPROT Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. 11314002

2001

dbSNP: rs78311289
rs78311289
0.800 GeneticVariation UNIPROT Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. 11314002

2001

dbSNP: rs121913482
rs121913482
0.800 GeneticVariation UNIPROT Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999

dbSNP: rs78311289
rs78311289
0.800 GeneticVariation UNIPROT Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999

dbSNP: rs121913482
rs121913482
T 0.800 CausalMutation CLINVAR

dbSNP: rs121913530
rs121913530
G 0.800 CausalMutation CLINVAR

dbSNP: rs121913530
rs121913530
0.800 GeneticVariation UNIPROT