Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893830
rs104893830
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		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
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		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
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		T 0.800 CausalMutation CLINVAR Molecularly genetic analysis of von Hippel-Lindau associated central nervous system hemangioblastoma. 20518900

2010
dbSNP: rs104893830
rs104893830
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		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
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		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
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		C 0.800 CausalMutation CLINVAR