Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
T 0.900 CausalMutation CLINVAR

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE Polycythemia vera is a clonal hematopoietic stem cell disorder in which the JAK2 V617F mutation is observed in >95% of patients, but an as yet unidentified process appears to initiate the clonal expansion of hematopoiesis. 18508790

2008

dbSNP: rs77375493
rs77375493
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
0.900 GeneticVariation BEFREE Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are myeloproliferative neoplasms (MPNs) characterized in most cases by a unique somatic mutation, JAK2 V617F. 22251709

2012

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE Polycythemia vera (PV) is a chronic myeloproliferative neoplasm associated with JAK2 mutations (V617F or exon 12) in almost all cases. 25278584

2014

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE Polycythemia Vera: An Appraisal of the Biology and Management 10 Years After the Discovery of JAK2 V617F. 26324368

2015

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE Polycythemia vera (PV) is a chronic myeloproliferative neoplasm (MPN) characterized by an overactive Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway through mutations in JAK2 exons 12 or 14 (JAK2 V617F). 26894383

2016

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE V617F JAK2 mutation is a reliable molecular marker of polycythemia vera (PV), potentially useful to monitor the effect of treatments in this disease. 16709929

2006

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE V617F-positive erythroid burst-forming units (BFU-Es) were more frequent in patients with PV compared with patients with ET (P = .022) and, strikingly, V617F-homozygous BFU-Es were detected in all 17 patients with PV, but in none of the patients with ET (P < .001). 16772604

2006

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

2008

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE V617F transgenic mice with thrombocytosis had higher serum levels of IFNγ than normal controls and patients with ET showed higher IFNγ serum levels than patients with PV. 24820309

2014

dbSNP: rs77375493
rs77375493
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
0.900 GeneticVariation BEFREE A further longitudinal study monitoring V617F positive-cells will clarify the process of progression from IE to PV in such a patient. 18528646

2008

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation UNIPROT A gain-of-function mutation of JAK2 in myeloproliferative disorders. 15858187

2005

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE A gradient was observed in laboratory values between patients with JAK2 wild-type ET, JAK2 V617F ET and PV (all of whom carried the JAK2 mutation). 17229651

2007

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE A JAK2 (V617F) gene dosage effect on both CD34(+) cell counts and granulocyte activation was clearly demonstrated in polycythemia vera, where abnormal patterns were mainly found in patients carrying more than 50% mutant alleles. 16373657

2006

dbSNP: rs77375493
rs77375493
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: rs4495487
rs4495487
0.010 GeneticVariation BEFREE A novel locus, rs4495487 (T/C), with a mutated T allele was significantly associated with PV. 22251709

2012

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE A novel zebrafish jak2a(V581F) model shared features of human JAK2(V617F) polycythemia vera. 19772888

2009

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE A point mutation in exon 14 of the JAK2 gene resulting in the formation of the JAK2 V617F transcript occurs in 95% of PV patients and around 50% of ET and PMF patients driving constitutive activation of the JAK/STAT pathway. 30558676

2018

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE A point mutation in the Janus kinase 2 exchanging a valine for a phenylalanine at position 617 (JAK2 V617F) was found in 65% to 97% of polycythemia vera (PV) patients, as well as in approximately 50% of essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) patients. 16210033

2005

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE A short TL correlated with JAK2-V617F allele burden greater than 50% (p = 0.0025), age (p = 0.0132) and diagnosis of PV (p = 0.0122). 23542632

2013

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis. 15781101

2005

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation UNIPROT A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis. 15781101

2005

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 patients with PV, 40 (58.8%) of 68 with ET, and eight (66.7%) of 12 with MMM. 17266061

2007