Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893830
rs104893830
VHL
C 0.800 CausalMutation CLINVAR

dbSNP: rs104893830
rs104893830
VHL
T 0.800 CausalMutation CLINVAR Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease. 25563310

2015
dbSNP: rs104893830
rs104893830
VHL
T 0.800 CausalMutation CLINVAR Molecularly genetic analysis of von Hippel-Lindau associated central nervous system hemangioblastoma. 20518900

2010
dbSNP: rs104893830
rs104893830
VHL
T 0.800 CausalMutation CLINVAR Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis. 19408298

2009
dbSNP: rs104893830
rs104893830
VHL
T 0.800 CausalMutation CLINVAR High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil. 12624160

2003
dbSNP: rs104893830
rs104893830
VHL
T 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: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC. 10408776

1999
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online. 10627136

1998
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911

1998
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912

1998
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306

1994
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. 8592333

1995
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. 8825918

1995
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC. 10635329

1999
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan. 8634692

1995
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. 8730290

1996
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma. 16502427

2006
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing. 9452032

1998
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Identification of the von Hippel-Lindau disease tumor suppressor gene. 8493574

1993
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014