Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123481
rs398123481
VHL
T 0.800 GeneticVariation CLINVAR Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients. 22357542

2012
dbSNP: rs398123481
rs398123481
VHL
G 0.800 GeneticVariation CLINVAR Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma. 22825683

2012
dbSNP: rs398123481
rs398123481
VHL
G 0.800 GeneticVariation CLINVAR Pilot trial of sunitinib therapy in patients with von Hippel-Lindau disease. 22105611

2011
dbSNP: rs398123481
rs398123481
VHL
T 0.800 CausalMutation CLINVAR Genetic analysis of von Hippel-Lindau disease. 20151405

2010
dbSNP: rs398123481
rs398123481
VHL
T 0.800 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau gene in Italian patients. 19464396

2009
dbSNP: rs398123481
rs398123481
VHL
G 0.800 GeneticVariation CLINVAR Zebrafish mutants in the von Hippel-Lindau tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia. 19304954

2009
dbSNP: rs398123481
rs398123481
VHL
G 0.800 GeneticVariation CLINVAR Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma. 19996202

2009
dbSNP: rs398123481
rs398123481
VHL
T 0.800 GeneticVariation CLINVAR Germline mutations in the von Hippel-Lindau gene in Italian patients. 19464396

2009
dbSNP: rs398123481
rs398123481
VHL
G 0.800 GeneticVariation CLINVAR Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene. 18836774

2008
dbSNP: rs398123481
rs398123481
VHL
T 0.800 GeneticVariation CLINVAR Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features. 18580449

2008
dbSNP: rs398123481
rs398123481
VHL
T 0.800 CausalMutation CLINVAR Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features. 18580449

2008
dbSNP: rs398123481
rs398123481
VHL
T 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 17024664

2007
dbSNP: rs398123481
rs398123481
VHL
T 0.800 GeneticVariation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 17024664

2007
dbSNP: rs398123481
rs398123481
VHL
T 0.800 GeneticVariation CLINVAR Pancreatic involvement in von Hippel-Lindau disease: report of two cases and review of the literature. 16952288

2006
dbSNP: rs398123481
rs398123481
VHL
G 0.800 GeneticVariation CLINVAR Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients. 17102082

2006
dbSNP: rs398123481
rs398123481
VHL
T 0.800 CausalMutation CLINVAR Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 12202531

2002
dbSNP: rs398123481
rs398123481
VHL
T 0.800 GeneticVariation CLINVAR Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 12202531

2002
dbSNP: rs398123481
rs398123481
VHL
G 0.800 GeneticVariation CLINVAR "Is the P25L a ""real"" VHL mutation?" 11257211

2001
dbSNP: rs398123481
rs398123481
VHL
G 0.800 GeneticVariation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 9681856

1998
dbSNP: rs398123481
rs398123481
VHL
T 0.800 GeneticVariation CLINVAR Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912

1998
dbSNP: rs398123481
rs398123481
VHL
T 0.800 CausalMutation CLINVAR Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912

1998
dbSNP: rs398123481
rs398123481
VHL
G 0.800 GeneticVariation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996
dbSNP: rs398123481
rs398123481
VHL
G 0.800 GeneticVariation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
dbSNP: rs398123481
rs398123481
VHL
T 0.800 GeneticVariation CLINVAR Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. 7977367

1994