Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation CLINVAR Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family. 27057652

2016
dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation CLINVAR Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center. 25562111

2015
dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation CLINVAR Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways. 23660872

2013
dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation 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
T 0.700 CausalMutation CLINVAR Dissecting fragment-based lead discovery at the von Hippel-Lindau protein:hypoxia inducible factor 1α protein-protein interface. 23102223

2012
dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation CLINVAR Genetic analysis of von Hippel-Lindau disease. 20151405

2010
dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau gene in Italian patients. 19464396

2009
dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation CLINVAR Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features. 18580449

2008
dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 17024664

2007
dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation CLINVAR Pancreatic involvement in von Hippel-Lindau disease: report of two cases and review of the literature. 16952288

2006
dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. 15300849

2004
dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation CLINVAR Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 12202531

2002
dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation CLINVAR "Is the P25L a ""real"" VHL mutation?" 11257211

2001
dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation CLINVAR Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein. 10823831

2000
dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation CLINVAR Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912

1998
dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation 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
T 0.700 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan. 8634692

1995
dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation CLINVAR Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations. 7553625

1995
dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation 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