Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200351681
rs200351681
TMEM127
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
EPAS1
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
EGLN1
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
RUNX1 ; LOC112267915
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
JAK2 ; INSL6
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
NFE2
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
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
dbSNP: rs142094773
rs142094773
EPOR
0.010 GeneticVariation BEFREE However, the Epo-R mutation (N487S) that we describe is located in the same tyrosine sequence beginning at AA 485 as the one previously observed (P488S) in as case of polycythemia (Sokol et al, Exp Hematol 22:447, 1994). 8608241

1996
dbSNP: rs62638745
rs62638745
EPOR
0.010 GeneticVariation BEFREE However, the Epo-R mutation (N487S) that we describe is located in the same tyrosine sequence beginning at AA 485 as the one previously observed (P488S) in as case of polycythemia (Sokol et al, Exp Hematol 22:447, 1994). 8608241

1996
dbSNP: rs33927093
rs33927093
HBB
0.010 GeneticVariation BEFREE Hb Puttelange [beta 140(H18)Ala-->Val] was found as a de novo mutation in two siblings of a French family suffering from polycythemia. 8522332

1995
dbSNP: rs35594230
rs35594230
HBB
0.010 GeneticVariation BEFREE Hb Puttelange [beta 140(H18)Ala-->Val] was found as a de novo mutation in two siblings of a French family suffering from polycythemia. 8522332

1995
dbSNP: rs754190776
rs754190776
HBG2
0.010 GeneticVariation BEFREE A new abnormal hemoglobin, Hb Villejuif [beta 123(H1) Thr----Ile] has been discovered during the exploration of a polycythemia in a 87-year-old patient of French origin. 2816924

1989
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: 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: rs1232880706
rs1232880706
FBN1
A 0.700 CausalMutation CLINVAR