Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519753
rs1057519753
A 0.700 GeneticVariation CLINVAR JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor. 16239216

2005

dbSNP: rs10815148
rs10815148
0.010 GeneticVariation BEFREE Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF. 18006699

2008

dbSNP: rs10974947
rs10974947
0.010 GeneticVariation BEFREE Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF. 18006699

2008

dbSNP: rs1188383936
rs1188383936
F2
0.010 GeneticVariation BEFREE In conclusion, among the four mutations analyzed (factor V Leiden, prothrombin G20210A, and MTHFR 677 C > T and 1298 A > C), only factor V Leiden is a major contributor to thrombosis in polycythemia vera and essential thrombocythemia. 23828072

2014

dbSNP: rs11999802
rs11999802
0.010 GeneticVariation BEFREE Using whole-genome SNP arrays, we assayed 34 T-cells and 66 granulocytes (including 32 pairs from the same patients), and identified multiple SNPs around JAK2 that are associated with PV susceptibility (rs11999802, P=1.8E-8, OR=4.4). 21794206

2011

dbSNP: rs1200469268
rs1200469268
0.010 GeneticVariation BEFREE In the absence of BCR-ABL, the conventional diagnostic algorithm recommends JAK2 V617F mutation testing to support diagnosis of other MPN diseases such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis. 30772299

2019

dbSNP: rs1217691063
rs1217691063
0.010 GeneticVariation BEFREE In conclusion, among the four mutations analyzed (factor V Leiden, prothrombin G20210A, and MTHFR 677 C > T and 1298 A > C), only factor V Leiden is a major contributor to thrombosis in polycythemia vera and essential thrombocythemia. 23828072

2014

dbSNP: rs121912473
rs121912473
0.010 GeneticVariation BEFREE One harbored a 33 bp duplication in exon 12 along with an exon 14 p.V617F mutation, another had an exon 12 p.H538_K539delinsL, and a third carried a previously unreported mutation in PV, p.L611S, alone, and in cis with p.V617F. 22642932

2012

dbSNP: rs121913499
rs121913499
0.010 GeneticVariation BEFREE IDH1 mutations included R132C (n=4; two post-PMF AML, one post-PV AML and one PMF) and R132S (n=1; post-PMF AML). 20410924

2010

dbSNP: rs121913615
rs121913615
MPL
0.030 GeneticVariation BEFREE MPL W515L mutation was found to be harbored in only one of 102 patients, who had essential thrombocythemia (ET, 1.0%) and was not detected in patients with polycythemia vera (PV), idiopathic myelofibrosis (IMF), and chronic myelogenous leukemia (CML). 18464114

2008

dbSNP: rs121913615
rs121913615
MPL
0.030 GeneticVariation BEFREE In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. 19843380

2009

dbSNP: rs121913615
rs121913615
MPL
0.030 GeneticVariation BEFREE One ET patient and two PMF patients harboured the MPL W515L mutation and three PV patients harboured JAK2 exon 12 mutations. 20331763

2010

dbSNP: rs121913616
rs121913616
MPL
0.010 GeneticVariation BEFREE In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. 19843380

2009

dbSNP: rs12339666
rs12339666
0.010 GeneticVariation BEFREE When stratified by disease subtypes, the <i>JAK2</i> 46/1 haplotype and <i>JAK2</i> rs12339666 were significantly associated with all three MPN subtypes, but <i>TERT</i> rs2736100 was only associated with essential thrombocythemia and polycythemia vera. 29100304

2017

dbSNP: rs12342421
rs12342421
0.010 GeneticVariation BEFREE Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF. 18006699

2008

dbSNP: rs1253570532
rs1253570532
0.010 GeneticVariation BEFREE Interestingly, the level of RUNX1/AML1 and NF-E2 transcripts that are specifically upregulated in acquired polycythemia vera were also upregulated in VHL(P138L) granulocytes. 23538339

2013

dbSNP: rs12979860
rs12979860
0.010 GeneticVariation BEFREE The CC genotype of rs12979860 was found significantly associated with hematologic response in polycythemia vera (PV) with a complete response (CR) in 79% (CC) compared to 48% (non-CC), (P = .036). 29369421

2018

dbSNP: rs17576
rs17576
0.010 GeneticVariation BEFREE There was no statistically significant difference between the groups in terms of MMP2-735 C > T polymorphism rates.In conclusion, MMP9 gene Gln279Arg polymorphism was associated with ET, SP, and PV diseases. 25906101

2015

dbSNP: rs17849241
rs17849241
0.010 GeneticVariation BEFREE Here we report a PV patient heterozygous for the somatic JAK2(N542-E543del) mutation and a previously unreported germline mutation within the SH2 domain of SOCS3 (F136L). 19735488

2009

dbSNP: rs201478192
rs201478192
0.040 GeneticVariation BEFREE Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, polycythemia vera and primary myelofibrosis are associated with JAK2 (V617F) mutations. 24475114

2014

dbSNP: rs201478192
rs201478192
0.040 GeneticVariation BEFREE The median V617F allele burden in PV patients was 40 %, MF was 95 %, and ET was 25 %. 24362471

2014

dbSNP: rs201478192
rs201478192
0.040 GeneticVariation BEFREE The frequency of the V617F JAK2 mutation was highest in patients with PV where 56 out of 70 cases (80%) carried the mutation, followed by ET with 6 of 24 (25) and IMF with 2 of 16 (12.5%) . 26617890

2015

dbSNP: rs201478192
rs201478192
0.040 GeneticVariation BEFREE Recently, a point mutation in the JAK2 gene, JAK2 (V617F) , was discovered in several myeloid proliferative neoplasms including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). 23666689

2013

dbSNP: rs2201862
rs2201862
0.010 GeneticVariation BEFREE Furthermore, the risk alleles of <i>MECOM</i> rs2201862 and <i>HBS1L</i>-<i>MYB</i> rs9376092 were demonstrated to be negatively associated with the risk of developing polycythemia vera. 29100304

2017

dbSNP: rs267606870
rs267606870
0.010 GeneticVariation BEFREE IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n=1; mutation found in both chronic- and blast-phase samples). 20410924

2010