Gene: VHL ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940298
rs28940298
VHL
T 0.700 CausalMutation CLINVAR The worldwide distribution of the VHL 598C>T mutation indicates a single founding event. 14604959

2004
dbSNP: rs397516441
rs397516441
VHL
G 0.700 GeneticVariation CLINVAR The Warburg effect is genetically determined in inherited pheochromocytomas. 19763184

2009
dbSNP: rs5030827
rs5030827
VHL
C 0.700 CausalMutation CLINVAR The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma. 16502427

2006
dbSNP: rs5030622
rs5030622
VHL
G 0.700 CausalMutation CLINVAR The Roles of VHL-Dependent Ubiquitination in Signaling and Cancer. 22649785

2012
dbSNP: rs193922613
rs193922613
VHL
G 0.700 GeneticVariation CLINVAR The positive regulation of p53 by the tumor suppressor VHL. 16969113

2006
dbSNP: rs28940298
rs28940298
VHL
T 0.700 CausalMutation CLINVAR The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W). 23403324

2013
dbSNP: rs5030622
rs5030622
VHL
G 0.700 CausalMutation CLINVAR The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. 10567493

1999
dbSNP: rs5030821
rs5030821
VHL
A 0.700 CausalMutation CLINVAR The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. 10567493

1999
dbSNP: rs5030822
rs5030822
VHL
C 0.700 GeneticVariation CLINVAR The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. 10567493

1999
dbSNP: rs5030833
rs5030833
VHL
G 0.700 CausalMutation CLINVAR The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. 10567493

1999
dbSNP: rs869025622
rs869025622
VHL
T 0.700 GeneticVariation CLINVAR The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. 10567493

1999
dbSNP: rs869025655
rs869025655
VHL
C 0.700 GeneticVariation CLINVAR The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. 10567493

1999
dbSNP: rs104893831
rs104893831
VHL
A 0.700 CausalMutation CLINVAR The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension. 24729484

2014
dbSNP: rs28940298
rs28940298
VHL
T 0.700 CausalMutation CLINVAR The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia. 21606165

2011
dbSNP: rs5030833
rs5030833
VHL
G 0.700 CausalMutation CLINVAR Tat-binding protein-1, a component of the 26S proteasome, contributes to the E3 ubiquitin ligase function of the von Hippel-Lindau protein. 14556007

2003
dbSNP: rs397516441
rs397516441
VHL
G 0.700 GeneticVariation CLINVAR Systematic comparison of sporadic and syndromic pancreatic islet cell tumors. 20660572

2010
dbSNP: rs5030820
rs5030820
VHL
T 0.700 CausalMutation CLINVAR Systematic comparison of sporadic and syndromic pancreatic islet cell tumors. 20660572

2010
dbSNP: rs104893825
rs104893825
VHL
T 0.700 CausalMutation CLINVAR Synthetic peptides define critical contacts between elongin C, elongin B, and the von Hippel-Lindau protein. 10587522

1999
dbSNP: rs869025622
rs869025622
VHL
T 0.700 GeneticVariation CLINVAR Synergistic growth inhibition by Iressa and Rapamycin is modulated by VHL mutations in renal cell carcinoma. 15956968

2005
dbSNP: rs5030820
rs5030820
VHL
T 0.700 CausalMutation CLINVAR Sunitinib treatment for multifocal renal cell carcinoma (RCC) and pancreatic neuroendocrine tumor (NET) in patient with Von Hippel-Lindau disease. Case Report. 26812297

2015
dbSNP: rs1131690960
rs1131690960
VHL
TGGC 0.700 GeneticVariation CLINVAR Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling. 12004076

2002
dbSNP: rs1131690962
rs1131690962
VHL
C 0.700 GeneticVariation CLINVAR Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling. 12004076

2002
dbSNP: rs765978945
rs765978945
VHL
G 0.700 CausalMutation CLINVAR Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling. 12004076

2002
dbSNP: rs869025618
rs869025618
VHL
C 0.700 GeneticVariation CLINVAR Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis. 19408298

2009
dbSNP: rs765978945
rs765978945
VHL
G 0.700 CausalMutation CLINVAR Structural basis for the recognition of hydroxyproline in HIF-1 alpha by pVHL. 12050673

2002