Gene: VHL ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913346
rs121913346
VHL
A 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs5030807
rs5030807
VHL
A 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs5030818
rs5030818
VHL
T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs5030820
rs5030820
VHL
T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913346
rs121913346
VHL
A 0.700 GeneticVariation CLINVAR Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters. 11921283

2002
dbSNP: rs5030807
rs5030807
VHL
A 0.700 GeneticVariation CLINVAR Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters. 11921283

2002
dbSNP: rs5030820
rs5030820
VHL
T 0.700 GeneticVariation CLINVAR Inhibition of transcription elongation by the VHL tumor suppressor protein. 7660122

1995
dbSNP: rs5030823
rs5030823
VHL
A 0.700 CausalMutation CLINVAR

dbSNP: rs104893824
rs104893824
VHL
0.020 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: rs104893824
rs104893824
VHL
0.020 GeneticVariation BEFREE Another mutation, T547C, which causes Tyr112 to His, has been seen at the same position and has been associated with VHL type 2A (pheochromocytoma, but no renal cell carcinoma) in two families with a total of 22 affected individuals [Chen F, Slife L, Kishida T, Mulvihill J, Tisherman SE, Zbar B, 1996: J Med Genet 33:716-717]. 10533030

1999
dbSNP: rs104893829
rs104893829
VHL
0.010 GeneticVariation BEFREE The VHL p.P81S mutation is most likely a low-penetrant pathogenic variant predisposing to RCC development. 28503092

2017
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

2015
dbSNP: rs779805
rs779805
VHL
0.010 GeneticVariation BEFREE The study was designed to explore the association of renal cell carcinoma (RCC) with VHL (rs779805), MTHFR (rs1801133) and APOE (rs8106822 and rs405509) polymorphisms, investigate the interactions among the single nucleotide polymorphisms (SNPs), and explore roles of the interactions in the pathogenesis of RCC in Chinese Han population. 26191297

2015
dbSNP: rs869025621
rs869025621
VHL
0.010 GeneticVariation BEFREE Molecular modeling of the VHL-ElonginC-HIF-1alpha complex predicted that the p.Asn78Tyr amino acid exchange remarkably alters the 77-83 loop structure of VHL protein and destabilizes the VHL-HIF-1alpha complex suggesting that the mutation causes type I phenotype and has high risk to associate to renal cell carcinoma. 23298237

2013
dbSNP: rs869025668
rs869025668
VHL
0.010 GeneticVariation BEFREE Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma. 20560986

2011
dbSNP: rs5030805
rs5030805
VHL
0.010 GeneticVariation BEFREE To our knowledge, the Ser80Ile mutation has not been previously described in VHL type 2 patients with high risk of pheochromocytoma and renal cell cancer. 18416845

2008
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: 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: rs5030824
rs5030824
VHL
0.010 GeneticVariation BEFREE Furthermore, pVHL L188V, a well studied type 2C mutant, retained the ability to suppress renal carcinoma growth in vivo. 11331612

2001