Gene: VHL ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030824
rs5030824
VHL
G 0.800 CausalMutation CLINVAR Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia. 23772956

2013
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Clinical utility gene card for: familial erythrocytosis. 22274579

2012
dbSNP: rs104893831
rs104893831
VHL
0.800 GeneticVariation UNIPROT Clinical utility gene card for: familial erythrocytosis. 22274579

2012
dbSNP: rs28940301
rs28940301
VHL
0.800 GeneticVariation UNIPROT Clinical utility gene card for: familial erythrocytosis. 22274579

2012
dbSNP: rs28940298
rs28940298
VHL
T 0.800 CausalMutation CLINVAR The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia. 21606165

2011
dbSNP: rs28940298
rs28940298
VHL
T 0.800 CausalMutation CLINVAR Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis. 19494350

2009
dbSNP: rs5030824
rs5030824
VHL
G 0.800 CausalMutation CLINVAR VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL. 19228690

2009
dbSNP: rs28940298
rs28940298
VHL
T 0.800 CausalMutation CLINVAR VHL type 2B mutations retain VBC complex form and function. 19030229

2008
dbSNP: rs5030824
rs5030824
VHL
G 0.800 CausalMutation CLINVAR Inadequate activation of the GTPase RhoA contributes to the lack of fibronectin matrix assembly in von Hippel-Lindau protein-defective renal cancer cells. 18567581

2008
dbSNP: rs28940298
rs28940298
VHL
T 0.800 CausalMutation CLINVAR von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis. 17992257

2007
dbSNP: rs28940298
rs28940298
VHL
T 0.800 CausalMutation CLINVAR Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster. 16210343

2006
dbSNP: rs5030824
rs5030824
VHL
G 0.800 CausalMutation CLINVAR Characterization of a von Hippel Lindau pathway involved in extracellular matrix remodeling, cell invasion, and angiogenesis. 16452184

2006
dbSNP: rs5030824
rs5030824
VHL
G 0.800 CausalMutation CLINVAR Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients. 15642680

2005
dbSNP: rs28940298
rs28940298
VHL
T 0.800 CausalMutation CLINVAR Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors. 14726398

2004
dbSNP: rs28940298
rs28940298
VHL
T 0.800 CausalMutation CLINVAR In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations. 15574766

2004
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Mutations in the VHL gene in sporadic apparently congenital polycythemia. 12393546

2003
dbSNP: rs104893830
rs104893830
VHL
0.800 GeneticVariation UNIPROT Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. 12844285

2003
dbSNP: rs104893831
rs104893831
VHL
0.800 GeneticVariation UNIPROT Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. 12844285

2003
dbSNP: rs104893831
rs104893831
VHL
0.800 GeneticVariation UNIPROT Mutations in the VHL gene in sporadic apparently congenital polycythemia. 12393546

2003
dbSNP: rs28940298
rs28940298
VHL
0.800 GeneticVariation UNIPROT Mutations in the VHL gene in sporadic apparently congenital polycythemia. 12393546

2003
dbSNP: rs28940298
rs28940298
VHL
0.800 GeneticVariation UNIPROT Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. 12844285

2003
dbSNP: rs28940298
rs28940298
VHL
T 0.800 CausalMutation CLINVAR Endemic polycythemia in Russia: mutation in the VHL gene. 11987242

2003
dbSNP: rs28940301
rs28940301
VHL
0.800 GeneticVariation UNIPROT Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. 12844285

2003
dbSNP: rs28940301
rs28940301
VHL
0.800 GeneticVariation UNIPROT Mutations in the VHL gene in sporadic apparently congenital polycythemia. 12393546

2003
dbSNP: rs5030824
rs5030824
VHL
G 0.800 CausalMutation CLINVAR Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. 12844285

2003