Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030835
rs5030835
VHL
G 0.700 CausalMutation CLINVAR Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features. 18580449

2008
dbSNP: rs5030835
rs5030835
VHL
G 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. 15300849

2004
dbSNP: rs5030835
rs5030835
VHL
G 0.700 CausalMutation CLINVAR Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 12202531

2002
dbSNP: rs5030835
rs5030835
VHL
G 0.700 CausalMutation CLINVAR DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations. 11409863

2001
dbSNP: rs5030835
rs5030835
VHL
G 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: rs5030835
rs5030835
VHL
G 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