Gene: VHL ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940298
rs28940298
VHL
0.030 GeneticVariation BEFREE Mutations in exon 3 of the VHL gene lead to Chuvash (VHL(R200W)) and Croatian (VHL(H191D)) polycythemias. 24729484

2014
dbSNP: rs28940298
rs28940298
VHL
0.030 GeneticVariation BEFREE This observation contrasts with a report suggesting that polycythemia in VHL R200W and H191D homozygotes is due to the loss of JAK2 regulation from VHL R200W and H191D binding to SOCS1. 23403324

2013
dbSNP: rs28940298
rs28940298
VHL
0.030 GeneticVariation BEFREE We report on five Caucasian patients with congenital polycythemia and mutations of the von Hipple-Lindau (VHL) gene: a compound heterozygote for the novel exon 1 (VHL 235C->T) and previously reported VHL 562C->G mutations; three homozygotes for Chuvash VHL 598C->T mutation; and a heterozygote for VHL 523->G mutation who also has ataxia-telangiectasia; a rare autosomal disease of childhood onset. 15642680

2005
dbSNP: rs28940301
rs28940301
VHL
0.020 GeneticVariation BEFREE Mutations in exon 3 of the VHL gene lead to Chuvash (VHL(R200W)) and Croatian (VHL(H191D)) polycythemias. 24729484

2014
dbSNP: rs28940301
rs28940301
VHL
0.020 GeneticVariation BEFREE The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W). 23403324

2013
dbSNP: rs28940301
rs28940301
VHL
0.020 GeneticVariation BEFREE This observation contrasts with a report suggesting that polycythemia in VHL R200W and H191D homozygotes is due to the loss of JAK2 regulation from VHL R200W and H191D binding to SOCS1. 23403324

2013
dbSNP: rs104893831
rs104893831
VHL
0.010 GeneticVariation BEFREE Here, we describe an infant of Bangladesh ethnicity with a novel homozygous VHL(D126N) mutation with congenital polycythemia and dramatically elevated erythropoietin (EPO) levels, who developed severe fatal pulmonary hypertension. 24729484

2014
dbSNP: rs780178275
rs780178275
VHL
0.010 GeneticVariation BEFREE However, now we describe a new homozygous VHL exon 2 mutation of the VHL gene:(c.413C>T):P138L, which is associated in the affected homozygote with congenital polycythemia but not in her, or her-heterozygous relatives, with cancer or other VHL syndrome tumors. 23538339

2013
dbSNP: rs200885420
rs200885420
VHL
0.010 GeneticVariation BEFREE We report on five Caucasian patients with congenital polycythemia and mutations of the von Hipple-Lindau (VHL) gene: a compound heterozygote for the novel exon 1 (VHL 235C->T) and previously reported VHL 562C->G mutations; three homozygotes for Chuvash VHL 598C->T mutation; and a heterozygote for VHL 523->G mutation who also has ataxia-telangiectasia; a rare autosomal disease of childhood onset. 15642680

2005
dbSNP: rs5030824
rs5030824
VHL
0.010 GeneticVariation BEFREE We report on five Caucasian patients with congenital polycythemia and mutations of the von Hipple-Lindau (VHL) gene: a compound heterozygote for the novel exon 1 (VHL 235C->T) and previously reported VHL 562C->G mutations; three homozygotes for Chuvash VHL 598C->T mutation; and a heterozygote for VHL 523->G mutation who also has ataxia-telangiectasia; a rare autosomal disease of childhood onset. 15642680

2005
dbSNP: rs869025650
rs869025650
VHL
0.010 GeneticVariation BEFREE In one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G->A;Gly144Arg). 15921386

2005
dbSNP: rs869025650
rs869025650
VHL
0.010 GeneticVariation BEFREE In one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G->A;Gly144Arg). 15921386

2005