Gene: VHL ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau gene in Italian patients. 19464396

2009
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience. 28469506

2017
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. 8730290

1996
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306

1994
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816

2002
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo. 19252526

2009
dbSNP: rs5030821
rs5030821
VHL
A 0.810 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 0.810 CausalMutation CLINVAR Molecularly genetic analysis of von Hippel-Lindau associated central nervous system hemangioblastoma. 20518900

2010
dbSNP: rs587780077
rs587780077
VHL
A 0.810 CausalMutation CLINVAR

dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 9681856

1998
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911

1998
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. 10567493

1999
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil. 12624160

2003
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma. 19996202

2009
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters. 11921283

2002
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Growth kinetics in von Hippel-Lindau-associated renal cell carcinoma. 22156657

2012
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. 21715564

2011
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer. 16488999

2006
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 17024664

2007
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease. 11114638

2000
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease. 17688370

2007
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Reconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous system. 11309459

2001
dbSNP: rs1553619440
rs1553619440
VHL
A 0.800 CausalMutation CLINVAR Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis. 19270817

2009