Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030808
rs5030808
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.800 CausalMutation CLINVAR Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification. 17661816

2007
dbSNP: rs5030808
rs5030808
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.800 CausalMutation CLINVAR A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C. 17922902

2007
dbSNP: rs5030808
rs5030808
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.800 CausalMutation CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816

2002
dbSNP: rs5030808
rs5030808
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.800 CausalMutation CLINVAR Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe. 8707293

1996
dbSNP: rs5030808
rs5030808
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.800 GeneticVariation CLINVAR

dbSNP: rs5030808
rs5030808
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		T 0.800 CausalMutation CLINVAR