Gene: VHL ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553619923
rs1553619923
VHL
TTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGA 0.700 GeneticVariation CLINVAR

dbSNP: rs869025645
rs869025645
VHL
TT 0.700 GeneticVariation CLINVAR

dbSNP: rs886041345
rs886041345
VHL
TGGAGGCCG 0.700 CausalMutation CLINVAR

dbSNP: rs1553619402
rs1553619402
VHL
TG 0.700 GeneticVariation CLINVAR

dbSNP: rs1559428232
rs1559428232
VHL
TG 0.700 CausalMutation CLINVAR

dbSNP: rs869025615
rs869025615
VHL
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1553620331
rs1553620331
VHL
TC 0.700 CausalMutation CLINVAR

dbSNP: rs869025624
rs869025624
VHL
TA 0.700 CausalMutation CLINVAR

dbSNP: rs28940298
rs28940298
VHL
T 0.820 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 0.820 CausalMutation CLINVAR Congenital polycythemia in Chuvashia. 9058738

1997
dbSNP: rs28940298
rs28940298
VHL
T 0.820 CausalMutation CLINVAR VHL type 2B mutations retain VBC complex form and function. 19030229

2008
dbSNP: rs28940298
rs28940298
VHL
T 0.820 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 0.820 CausalMutation CLINVAR In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations. 15574766

2004
dbSNP: rs28940298
rs28940298
VHL
T 0.820 CausalMutation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996
dbSNP: rs28940298
rs28940298
VHL
T 0.820 CausalMutation CLINVAR Endemic polycythemia in Russia: mutation in the VHL gene. 11987242

2003
dbSNP: rs28940298
rs28940298
VHL
T 0.820 CausalMutation CLINVAR Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster. 16210343

2006
dbSNP: rs28940298
rs28940298
VHL
T 0.820 CausalMutation CLINVAR The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia. 21606165

2011
dbSNP: rs28940298
rs28940298
VHL
T 0.820 CausalMutation CLINVAR Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis. 19494350

2009
dbSNP: rs28940298
rs28940298
VHL
T 0.820 CausalMutation CLINVAR The gene associated with von Hippel-Lindau syndrome, VHL, maps to this region, and homozygosity with respect to a C-->T missense mutation in VHL, causing an arginine-to-tryptophan change at amino-acid residue 200 (Arg200Trp), was identified in all individuals affected with Chuvash polycythemia. 12415268

2002
dbSNP: rs104893829
rs104893829
VHL
T 0.810 CausalMutation CLINVAR

dbSNP: rs5030802
rs5030802
VHL
T 0.810 CausalMutation CLINVAR

dbSNP: rs5030804
rs5030804
VHL
T 0.810 CausalMutation CLINVAR

dbSNP: rs5030804
rs5030804
VHL
T 0.810 GeneticVariation CLINVAR

dbSNP: rs5030805
rs5030805
VHL
T 0.810 CausalMutation CLINVAR

dbSNP: rs5030821
rs5030821
VHL
T 0.810 CausalMutation CLINVAR Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population. 21463266

2011