Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1416313401
rs1416313401
0.010 GeneticVariation BEFREE From analysis of naturally occurring pVHL mutants, it seems that only point mutations such as pVHL(Y98H) and pVHL(Y112H) (that predispose to haemangioblastoma and phaeochromocytoma, but not to renal cell carcinoma) disrupt pVHL's microtubule-stabilizing function. 12510195

2003

dbSNP: rs5030809
rs5030809
VHL
0.010 GeneticVariation BEFREE From analysis of naturally occurring pVHL mutants, it seems that only point mutations such as pVHL(Y98H) and pVHL(Y112H) (that predispose to haemangioblastoma and phaeochromocytoma, but not to renal cell carcinoma) disrupt pVHL's microtubule-stabilizing function. 12510195

2003

dbSNP: rs2231142
rs2231142
0.010 GeneticVariation BEFREE Carriers with the C/C genotype of the BCRP C421A polymorphism are at risk of developing nonpapillary RCC. 15906349

2005

dbSNP: rs141683432
rs141683432
0.010 GeneticVariation BEFREE Furthermore, methylation-specific PCR analysis revealed promoter region methylation in 30% (19 of 64) of clear cell RCC and 40% (15 of 38) of papillary RCC, whereas mutation analysis (in 39 RCC cell lines and primary tumors) revealed a missense substitution (P111S) in one RCC cell line. 15930277

2005

dbSNP: rs17576
rs17576
0.010 GeneticVariation BEFREE The present results suggest that MMP9 R279Q polymorphism has influence on the malignant potential of RCC. 16466849

2006

dbSNP: rs758272654
rs758272654
0.020 GeneticVariation BEFREE Our results show that besides tumor stage, lymph node status, and tumor grade, the GNAS1 T393C status is a novel independent host factor for disease progression in patients with clear cell renal cell carcinoma and provides further evidence for the T393C polymorphism as a general prognostic tumor marker. 16467086

2006

dbSNP: rs25487
rs25487
0.010 GeneticVariation BEFREE We found that the frequency of 399Gln variant at XRCC1 Arg399Gln was significantly higher in RCC cases than in controls (OR=2.83, 95%CI=1.24-6.49, P=0.01). 16510122

2006

dbSNP: rs937475913
rs937475913
0.010 GeneticVariation BEFREE We found that the frequency of 399Gln variant at XRCC1 Arg399Gln was significantly higher in RCC cases than in controls (OR=2.83, 95%CI=1.24-6.49, P=0.01). 16510122

2006

dbSNP: rs1064794272
rs1064794272
VHL
0.010 GeneticVariation BEFREE Previous patients with the N131K or N131T mutation in pVHL developed VHLD type 2B with RCC or VHLD type 1 without PHE, respectively. 17001110

2006

dbSNP: rs2273535
rs2273535
0.010 GeneticVariation BEFREE This first analysis of the STK15 T91A SNP in RCC patients revealed no correlation between a certain allelic variant and an increased risk for RCC. 17143471

2007

dbSNP: rs1222213359
rs1222213359
0.030 GeneticVariation BEFREE We investigated the associations of three polymorphisms (-2578C/A, -1154G/A, and -634C/G) in the VEGF gene with the clinicopathologic parameters and survival of 213 patients with RCC. 17287073

2007

dbSNP: rs1042522
rs1042522
0.020 GeneticVariation BEFREE Polymorphisms of p53 Arg(72)Pro and p21 Ser(31)Arg did not show significant association with RCC. 17634539

2007

dbSNP: rs1131691014
rs1131691014
0.020 GeneticVariation BEFREE Polymorphisms of p53 Arg(72)Pro and p21 Ser(31)Arg did not show significant association with RCC. 17634539

2007

dbSNP: rs1353702185
rs1353702185
0.020 GeneticVariation BEFREE Polymorphisms of p53 Arg(72)Pro and p21 Ser(31)Arg did not show significant association with RCC. 17634539

2007

dbSNP: rs878854066
rs878854066
0.020 GeneticVariation BEFREE Polymorphisms of p53 Arg(72)Pro and p21 Ser(31)Arg did not show significant association with RCC. 17634539

2007

dbSNP: rs1057520001
rs1057520001
0.010 GeneticVariation BEFREE Polymorphisms of p53 Arg(72)Pro and p21 Ser(31)Arg did not show significant association with RCC. 17634539

2007

dbSNP: rs886039484
rs886039484
0.010 GeneticVariation BEFREE Polymorphisms of p53 Arg(72)Pro and p21 Ser(31)Arg did not show significant association with RCC. 17634539

2007

dbSNP: rs1801133
rs1801133
0.030 GeneticVariation BEFREE Having at least 1 variant T allele of MTHFR A222V was associated with higher RCC risk compared to those with 2 common (CC) alleles (OR = 1.44; 95% CI: 1.17-1.77; p = 0.001). 18098291

2008

dbSNP: rs1799793
rs1799793
0.010 GeneticVariation BEFREE In individual single nucleotide polymorphism analysis, after adjustment for multiple comparisons, a significantly decreased RCC risk was observed for the heterozygous genotype of XPD Asp312Asn [odds ratio (OR) = 0.62; 95% confidence interval (CI): 0.43-0.90] and for the heterozygous and homozygous variant genotypes combined in a dominant model (OR = 0.64; 95% CI: 0.46-0.89). 18711149

2008

dbSNP: rs11549465
rs11549465
0.030 GeneticVariation BEFREE In previous studies, the C1772T (P582S) or the G1790A (A588T) polymorphisms of the HIF-1alpha gene have been identified in renal cell carcinoma, head and neck and esophageal squamous cell carcinomas as well as colorectal and prostate cancers. 18949419

2008

dbSNP: rs11549467
rs11549467
0.020 GeneticVariation BEFREE In previous studies, the C1772T (P582S) or the G1790A (A588T) polymorphisms of the HIF-1alpha gene have been identified in renal cell carcinoma, head and neck and esophageal squamous cell carcinomas as well as colorectal and prostate cancers. 18949419

2008

dbSNP: rs12553173
rs12553173
0.010 GeneticVariation BEFREE CA9 rs12553173 and CAIX are independent prognostic factors of overall survival and complementary for predicting the prognosis of metastatic clear cell renal cell carcinoma. 19539328

2009

dbSNP: rs1801275
rs1801275
0.010 GeneticVariation BEFREE The present study is aimed at analyzing the presence and significance of the interleukin-4-receptor alpha Ile50Val and Gln576Arg polymorphisms in a group of RCC patients from South India. 19548368

2009

dbSNP: rs12953717
rs12953717
0.010 GeneticVariation BEFREE We genotyped 14 single nucleotide polymorphisms (SNPs) in 6 genes. including Dickkopf 2 (DKK2) (reference SNP identification number 17037102 [rs17037102], rs419558, and rs447372), DKK3 (rs3206824, rs11022095, rs1472189, rs7396187, and rs2291599), DKK4 (rs2073664), secreted frizzled-related protein 4 (sFRP4) (rs1802073 and rs1802074), mothers against decapentaplegic homolog (SMAD) family member 7 or SMAD7 (rs12953717), and disheveled associated activator of morphogenesis 2 or DAAM2 (rs6937133 and rs2504106) using polymerase chain reaction-restriction fragment length polymorphism analysis and direct sequencing in the patients with RCC and in the healthy, age-matched control group. 19562778

2009

dbSNP: rs17037102
rs17037102
0.010 GeneticVariation BEFREE To the authors' knowledge, this is the first report documenting that DKK3 polymorphisms are associated with RCC and that the DKK2 rs17037102 polymorphism may be a predictor for survival in patients with RCC after radical nephrectomy. 19562778

2009