Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893826
rs104893826
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease. 24555745

2014
dbSNP: rs104893826
rs104893826
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population. 21463266

2011
dbSNP: rs104893826
rs104893826
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome. 19808854

2009
dbSNP: rs104893826
rs104893826
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 19336503

2009
dbSNP: rs104893826
rs104893826
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 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: rs104893826
rs104893826
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. 11331612

2001
dbSNP: rs104893826
rs104893826
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Germline mutations in the vhl gene in patients presenting with phaeochromocytomas. 9663592

1998