Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
0.750 GeneticVariation BEFREE These results demonstrate that STAT5a/b is essential for the induction of CML-like leukemia by BCR-ABL1 and of polycythemia by JAK2(V617F), and validate STAT5a/b and the genes they regulate as targets for therapy in these MPNs. 22234689

2012

dbSNP: rs77375493
rs77375493
0.750 GeneticVariation BEFREE The JAK2(V617F) mutation occurred in 27% of SP patients diagnosed according to the Polycythemia Vera Study Group or World Health Organization 2001 criteria. 22262773

2012

dbSNP: rs77375493
rs77375493
0.750 GeneticVariation BEFREE The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients with polycythemia and in a sizeable proportion of patients with other myeloproliferative disorders such as essential thrombocythemia and idiopathic myelofibrosis. 17317861

2007

dbSNP: rs77375493
rs77375493
0.750 GeneticVariation BEFREE This work demonstrates that JAK2(V617F) is sufficient for polycythemia and fibrosis development and offers an in vivo model to assess novel therapeutic approaches for JAK2(V617F)-positive pathologies. 16670266

2006

dbSNP: rs77375493
rs77375493
0.750 GeneticVariation BEFREE Molecular pathogenesis and therapy of polycythemia induced in mice by JAK2 V617F. 17183644

2006

dbSNP: rs77375493
rs77375493
T 0.750 CausalMutation CLINVAR

dbSNP: rs1232880706
rs1232880706
A 0.700 CausalMutation CLINVAR

dbSNP: rs1565295267
rs1565295267
A 0.700 GeneticVariation CLINVAR

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: rs200351681
rs200351681
0.010 GeneticVariation BEFREE Homozygous loss of function mutation of VHL (VHL 598C>T) gene can associate with polycythemia because of an altered hypoxia sensing. 31568062

2020

dbSNP: rs137853036
rs137853036
0.010 GeneticVariation BEFREE Firstly, we identified a rare but well studied germline mutation resulting in polycythemia in HIF2A (c.1609G>A, p.Gly537Arg) in the blood of the patient and his daughter. 29172931

2017

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: rs12097901
rs12097901
0.010 GeneticVariation BEFREE The c.[12C>G; 380G>C] mutation abrogates hypoxia-induced and HIF-mediated augmentation of erythropoiesis, which provides a molecular mechanism for the observed protection of Tibetans from polycythemia at high altitude. 25129147

2014

dbSNP: rs775206089
rs775206089
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: rs771912975
rs771912975
0.010 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: rs775387828
rs775387828
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: 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: rs201051019
rs201051019
EPO
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: 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