Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Different involvement of the megakaryocytic lineage by the JAK2 V617F mutation in Polycythemia vera, essential thrombocythemia and chronic idiopathic myelofibrosis. 17262192

2007

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE A clinical laboratory providing the V617F test alone may risk missing a substantial number of patients with PV in areas with a high incidence of exon 12 mutation. 20660330

2010

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE JAK2 V617F mutation was found to be positive in 100% of polycythemia vera cases, 68.29% of essential thrombocythemia cases, and 55.28% of all MPD cases whereas negative in idiopathic erythrocytosis, reactive thrombocytosis, and other non-MPD cases such as acute chronic myeloid leukemias. 21198321

2011

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The detection rate of JAK2(V617F) was 76.2% for PV (homozygous in 14.3%), 46.9% for ET, 80% for myelofibrosis (homozygous in 20%), and 0% for the other conditions. 22333011

2012

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Because the erythropoietin, thrombopoietin, and granulocyte colony-stimulating factor receptors are all constitutively activated, polycythemia vera is the potential ultimate clinical phenotype of the JAK2 V617F mutation and, as a corollary, is the most common of the 3 disorders. 20194236

2010

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE JAK2(V617F) and FLT3(ITD)-positive polycythemia vera cells and acute myeloid leukemia cells also produce ROS via MRC-cIII. 22411871

2012

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The specificity of a JAK2 V617F PCR test for the diagnosis of MPD is high (near 100%), but only half of ET and MF (50%) and the majority of PV (up to 97%) are JAK2 V617F positive. 16919893

2007

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Altered signaling is a hallmark of myeloproliferative neoplasms, as demonstrated by the presence of activating JAK2 (V617F) mutation in about 70% of patients (95% of polycythemia vera, 50%-60% of essential thrombocythemia, and 50%-60% of primary myelofibrosis). 20528738

2010

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE In 2007, this 82-year-old man with essential thrombocythemia since 1994 developed primary polycythemia with the JAK2 mutation V617F. 30471421

2019

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE JUNB was one of the genes upregulated in PV, and we confirmed, by quantitative real-time PCR, an overexpression of JUNB in hematopoietic cells of other JAK2 V617F PV patients. 18843287

2009

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The median V617F allele burden in PV patients was 40 %, MF was 95 %, and ET was 25 %. 24362471

2014

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The most consistent relationship was that between PV and the JAK2 V617F mutation (p=0.08). 19843380

2009

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported in chronic myeloproliferative disorders, including polycythemia vera, essential thrombocythemia and myelofibrosis with myeloid metaplasia, strongly suggesting its role in the pathogenesis of myeloid disorders. 16247455

2006

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloproliferative disorders including polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis with an increased demand for testing using molecular techniques. 19877761

2010

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE However it is not so easy, because iPSCs from hematological malignancies have been established only from myeloproliferative neoplasms including chronic myelogenous leukemia (CML) and JAK2-V617F mutation-positive polycythemia vera (PV). iPSC technology has great potential to promote oncology research based on patient samples. 23807288

2013

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The JAK2 V617F mutation per se but not the mutational load in patients with ET is associated with a PV-like phenotype and a higher prevalence of previous arterial thrombosis. 18616871

2008

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE V617F-positive ET and P</span>V displayed significant differences in their serum protein profiles. 18838204

2008

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Polycythemia vera (PV) is characterized by erythrocytosis associated with the presence of the activating JAK2(V617F) mutation in a variable proportion of hematopoietic cells. 19815050

2009

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Treatment with atiprimod, a potent JAK2 inhibitor, caused marked growth inhibition and apoptosis of human (SET-2) and mouse (FDCP-EpoR) JAK2(V617F)-positive cells as well as primary blood or bone marrow mononuclear cells from patients with polycythemia vera; however, these effects were attenuated when any of these cell types were cocultured (cell-on-cell) with human marrow stromal cell lines (e.g., HS5, NK.tert, TM-R1). 21512135

2011

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE The V617F mutation in the JH2 domain of JAK2 is an oncogenic driver in several myeloproliferative neoplasms (MPNs), including essential thrombocythemia, myelofibrosis, and polycythemia vera (PV). 31697804

2019

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Therefore, although the presence of JAK2(V617F) in ET appears to promote a PV phenotype, it might not carry treatment-relevant information. 16197451

2005

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Decrease in JAK2 V617F allele burden is not a prerequisite to clinical response in patients with polycythemia vera. 22102708

2012

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE Since the demonstration that the V617F mutation in the exon 14 of the JAK2 gene is present in about 90% of patients with Polycythemia Vera (PV), the detection of this mutation has become a key tool for the diagnosis of these patients. 20126644

2010

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE It is hoped that the same will happen in other MPN with specific genetic alterations: polycythemia vera (JAK2 V617F and other JAK2 mutations), essential thrombocythemia (JAK2V617F and MPL515 mutations), primary myelofibrosis (JAK2 V617F and MPL515 mutations), systemic mastocytosis (KITD816V and other KIT mutations) and stem cell leukaemia/lymphoma (ZNF198-FGFR1 and other FGFR1 fusion genes). 19175693

2009

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE We set-up a multiplex real-time polymerase chain reaction assay followed by capillary electrophoresis, designed to simultaneously screen the two main genetic lesions associated with CMDs, i.e. the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that characterises polycythaemia vera and a proportion of cases of essential thrombocythemia and idiopathic myelofibrosis. 17285276

2007