Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030826
rs5030826
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.800 CausalMutation CLINVAR Inactivation of VHL by tumorigenic mutations that disrupt dynamic coupling of the pVHL.hypoxia-inducible transcription factor-1alpha complex. 15611064

2005
dbSNP: rs5030826
rs5030826
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.800 CausalMutation CLINVAR [von Hippel-Lindau syndrome: molecular diagnosis of two Lebanese families and analysis of the genotype-phenotype correlation]. 15881703

2005
dbSNP: rs5030826
rs5030826
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.800 CausalMutation CLINVAR The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. 10567493

1999
dbSNP: rs5030826
rs5030826
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.800 CausalMutation CLINVAR Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911

1998
dbSNP: rs5030826
rs5030826
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.800 CausalMutation CLINVAR Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. 8730290

1996
dbSNP: rs5030826
rs5030826
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.800 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
dbSNP: rs5030826
rs5030826
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.800 CausalMutation CLINVAR Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306

1994
dbSNP: rs5030826
rs5030826
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		T 0.800 CausalMutation CLINVAR

dbSNP: rs5030826
rs5030826
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		A 0.800 CausalMutation CLINVAR