Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1559426203
rs1559426203
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.700 CausalMutation CLINVAR Differences in genetic and epigenetic alterations between von Hippel-Lindau disease-related and sporadic hemangioblastomas of the central nervous system. 28379443

2017
dbSNP: rs1559426203
rs1559426203
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		T 0.700 CausalMutation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016
dbSNP: rs1559426203
rs1559426203
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		T 0.700 CausalMutation CLINVAR Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry. 25867206

2016
dbSNP: rs1559426203
rs1559426203
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		T 0.700 CausalMutation CLINVAR Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center. 25562111

2015
dbSNP: rs1559426203
rs1559426203
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.700 CausalMutation CLINVAR Effects of point mutations in pVHL on the binding of HIF-1α. 22105711

2012
dbSNP: rs1559426203
rs1559426203
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.700 CausalMutation CLINVAR Mutations of the von Hippel-Lindau gene confer increased susceptibility to natural killer cells of clear-cell renal cell carcinoma. 21258414

2011
dbSNP: rs1559426203
rs1559426203
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		T 0.700 CausalMutation CLINVAR Phosphorylation of von Hippel-Lindau protein by checkpoint kinase 2 regulates p53 transactivation. 22071692

2011
dbSNP: rs1559426203
rs1559426203
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.700 CausalMutation CLINVAR Hereditary renal cell carcinoma associated with von Hippel-Lindau disease: a description of a Nova Scotia cohort. 19293973

2009
dbSNP: rs1559426203
rs1559426203
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.700 CausalMutation CLINVAR Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma. 19996202

2009
dbSNP: rs1559426203
rs1559426203
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		T 0.700 CausalMutation CLINVAR Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations. 14722919

2004
dbSNP: rs1559426203
rs1559426203
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		T 0.700 CausalMutation CLINVAR Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes. 12807974

2003
dbSNP: rs1559426203
rs1559426203
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		T 0.700 CausalMutation CLINVAR Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 12202531

2002
dbSNP: rs1559426203
rs1559426203
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		T 0.700 CausalMutation CLINVAR Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families. 10761708

2000
dbSNP: rs1559426203
rs1559426203
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		T 0.700 CausalMutation CLINVAR Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911

1998
dbSNP: rs1559426203
rs1559426203
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.700 CausalMutation CLINVAR Establishment and characterization of a renal cell carcinoma line from a patient with von Hippel-Lindau syndrome. 9209471

1997
dbSNP: rs1559426203
rs1559426203
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		T 0.700 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
dbSNP: rs1559426203
rs1559426203
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		G 0.700 CausalMutation CLINVAR Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. 7977367

1994