Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864321679
rs864321679
0.700 CausalMutation CLINVAR A germline mutation in PBRM1 predisposes to renal cell carcinoma. 25911086

2016

dbSNP: rs78683075
rs78683075
0.700 GeneticVariation UNIPROT Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability. 21538689

2011

dbSNP: rs78683075
rs78683075
0.700 GeneticVariation UNIPROT Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN. 18794106

2008

dbSNP: rs147608663
rs147608663
0.700 GeneticVariation UNIPROT Patterns of somatic mutation in human cancer genomes. 17344846

2007

dbSNP: rs372947534
rs372947534
0.700 GeneticVariation UNIPROT Patterns of somatic mutation in human cancer genomes. 17344846

2007

dbSNP: rs587782274
rs587782274
0.700 GeneticVariation UNIPROT Patterns of somatic mutation in human cancer genomes. 17344846

2007

dbSNP: rs876658517
rs876658517
0.700 GeneticVariation UNIPROT Patterns of somatic mutation in human cancer genomes. 17344846

2007

dbSNP: rs28940297
rs28940297
VHL
0.700 GeneticVariation UNIPROT Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma. 11986208

2002

dbSNP: rs104893751
rs104893751
0.700 CausalMutation CLINVAR Alterations of the DNA repair gene OGG1 in human clear cell carcinomas of the kidney. 10987279

2000

dbSNP: rs28940297
rs28940297
VHL
0.700 GeneticVariation UNIPROT Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function. 10205047

1999

dbSNP: rs587776825
rs587776825
0.700 CausalMutation CLINVAR

dbSNP: rs397507444
rs397507444
0.020 GeneticVariation BEFREE Methylenetetrahydrofolate reductase (MTHFR) gene C677T, A1298C and G1793A polymorphisms: association with risk for clear cell renal cell carcinoma and tumour behaviour in men. 21489764

2012

dbSNP: rs397507444
rs397507444
0.020 GeneticVariation BEFREE The variant genotypes of MTHFR A1298C were significantly associated with some advanced characteristics of CCRCC in all patients, and these associations were stronger among men. 20039875

2010

dbSNP: rs3923594
rs3923594
0.010 GeneticVariation BEFREE CD146 Promoter Polymorphism (rs3923594) Is Associated with Recurrence of Clear Cell Renal Cell Carcinoma in Chinese Population. 28626293

2018

dbSNP: rs1049334
rs1049334
0.010 GeneticVariation BEFREE The functional SNP rs1049334 may affect the risk of ccRCC by altering the expression of Cav-1 and the relevance between the risk effects and the functional impact of this polymorphism needs further validation. 26066055

2016

dbSNP: rs11762213
rs11762213
MET
0.010 GeneticVariation BEFREE Validation and genomic interrogation of the MET variant rs11762213 as a predictor of adverse outcomes in clear cell renal cell carcinoma. 26505625

2016

dbSNP: rs35996865
rs35996865
0.010 GeneticVariation BEFREE Our results indicate that the two SNPs (Cav-1 rs1049334 and ROCK1 rs35996865) and genotypes with a combination of 2-4 risk alleles were associated with the risk of ccRCC. 26066055

2016

dbSNP: rs776399733
rs776399733
VHL
0.010 GeneticVariation BEFREE Targeted resequencing of CDKN2B in individuals (n = 82) with features of inherited RCC then revealed three candidate CDKN2B missense mutations (p.Pro40Thr, p.Ala23Glu, and p.Asp86Asn). 25873077

2016

dbSNP: rs182052
rs182052
0.010 GeneticVariation BEFREE ADIPOQ polymorphism rs182052 is associated with clear cell renal cell carcinoma. 25827778

2015

dbSNP: rs266729
rs266729
0.010 GeneticVariation BEFREE In this case-control study, we examined the frequency of single nucleotide polymorphisms (rs182052G>A, rs266729C>G, and rs3774262G>A) in the adiponectin gene (ADIPOQ) in 1004 patients with clear cell renal cell carcinoma (ccRCC) compared with a group of healthy subjects (n = 1108). 25827778

2015

dbSNP: rs34589476
rs34589476
MET
0.010 GeneticVariation BEFREE Subsequent sequence analysis revealed a heterozygous R988C mutation of the MET gene and a VHL deletion in both the primary tumor and the tumor-derived ccRCC cell line. 24929890

2015

dbSNP: rs3774262
rs3774262
0.010 GeneticVariation BEFREE In this case-control study, we examined the frequency of single nucleotide polymorphisms (rs182052G>A, rs266729C>G, and rs3774262G>A) in the adiponectin gene (ADIPOQ) in 1004 patients with clear cell renal cell carcinoma (ccRCC) compared with a group of healthy subjects (n = 1108). 25827778

2015

dbSNP: rs706209
rs706209
CBS
0.010 GeneticVariation BEFREE Strong associations with ccRCC risk were observed for rs706209 (P = 0.006) in CBS and rs9332 (P = 0.027) in MTRR. 24278388

2015

dbSNP: rs71428439
rs71428439
0.010 GeneticVariation BEFREE miR149 rs71428439 polymorphism and risk of clear cell renal cell carcinoma: a case-control study. 25213695

2015

dbSNP: rs9332
rs9332
0.010 GeneticVariation BEFREE Strong associations with ccRCC risk were observed for rs706209 (P = 0.006) in CBS and rs9332 (P = 0.027) in MTRR. 24278388

2015