Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
0.800 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
0.800 GeneticVariation BEFREE The frequency of V617F was 65 percent among patients with polycythemia vera (83 of 128), 57 percent among patients with idiopathic myelofibrosis (13 of 23), and 23 percent among patients with essential thrombocythemia (21 of 93). 15858187

2005

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML. 15860661

2005

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE In order to explore the correlation between these two biological markers and compare their diagnostic utility, mutation analysis for JAK2(V617F) and quantitative measurement of granulocyte PRV-1 expression were performed on the same study sample from 100 participants: 38 with PV, 22 with essential thrombocythaemia (ET), 10 with agnogenic myeloid metaplasia (AMM), 19 with secondary polycythaemia (SP) and 11 healthy volunteers. 16197445

2005

dbSNP: rs77375493
rs77375493
0.800 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
0.800 GeneticVariation BEFREE However, it is very clear that some patients with classical PV lack the JAK2 V617F mutation, while some patients with other chronic myeloproliferative disorders such as idiopathic myelofibrosis (IMF) and essential thrombocytosis (ET) also express the JAK2 V617F mutation. 16210034

2005

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE The JAK2(V617F) tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates. 16225651

2005

dbSNP: rs77375493
rs77375493
0.800 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
0.800 GeneticVariation BEFREE V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis. 16293597

2006

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE An acquired V617F mutation in JAK2 occurs in most patients with polycythaemia vera, but is seen in only half those with essential thrombocythaemia and idiopathic myelofibrosis. 16325696

2005

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE In polycythemia vera, JAK2 (V617F) was detected in 23 of 25 subjects at diagnosis and in 16 of 16 patients whose disease had evolved into myelofibrosis; median percentages of mutant alleles in these subgroups were significantly different (32% versus 95%, P < .001). 16373657

2006

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE A longitudinal study of the JAK2(V617F) mutation in myelofibrosis with myeloid metaplasia: analysis at two time points. 16531268

2006

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE Respective clustering of unfavorable and favorable cytogenetic clones in myelofibrosis with myeloid metaplasia with homozygosity for JAK2(V617F) and response to erythropoietin therapy. 16532437

2006

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disorder (MPD) and its possible implication as a predisposing genetic factor, we analyzed 72 families including 174 patients (81 polycythemia vera [PV], 68 essential thrombocythemia [ET], 11 myelofibrosis with myeloid metaplasia [MMM], 12 chronic myeloid leukemia), 1 systemic mastocytosis, and 1 chronic myelomonocytic leukemia (CMML). 16537803

2006

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE JAK2(V617F) and leukemic transformation in myelofibrosis with myeloid metaplasia. 16563504

2006

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, including the JAK2 V617 PCR test, serum EPO, PRV-1, EEC, LAP score, peripheral blood parameters, and spleen size on echogram will detect the early stages of MPD and allows diagnostic differentiation of the three primary MPDs (ET, PV, and CIMF) in both JAK2 V617F-positive and JAK2 wild-type MPD patients. 16810609

2006

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE JAK2 V617F-positive ET/PV and CIMF should be distinguished from wild-type JAK2 ET, rare cases of PV, and CIMF, and should be evaluated during life-long follow-up. 16810614

2006

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE The V617F mutation was detected in 27 of 28 (96%) cases of polycythemia vera, 17 of 23 (74%) cases of essential thrombocythemia, 28 of 45 (62%) cases of chronic idiopathic myelofibrosis, six of eight (75%) cases of CMPD unclassified, and two of four (50%) cases of myelodysplastic/myeloproliferative syndrome. 16825501

2006

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE Janus kinase 2 (V617F) mutation status, signal transducer and activator of transcription-3 phosphorylation and impaired neutrophil apoptosis in myelofibrosis with myeloid metaplasia. 16871275

2006

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE Because the JAK-STAT signaling pathway is involved in the regulation of genes encoding matrix metalloproteinases (MMPs), we examined the expression of MMPs, their tissue inhibitors (TIMPs), and collagen types in relation to the JAK2 status (V617F mutation versus wild-type) in cIMF (n = 64). 16877349

2006

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE Follow-up of transgenic mice expressing V617F JAK2 showed that they develop typical features of myelofibrosis. 16901656

2007

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE An activating JAK2 mutation (JAK2 V617F) is present in the chronic myeloproliferative disorders (MPDs), polycythemia vera (PV), idiopathic myelofibrosis (IMF), and essential thrombocytosis (ET). 16912229

2006

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkaline phosphatase score and peripheral blood parameters combined with bone marrow histopathology has a high sensitivity and specificity (almost 100%) to diagnose the early and overt stages of ET, PV and CIMF in JAK2 V617F positive and negative MPDs. 16919893

2007

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE Overall, the incidence of the JAK2 V617F mutation was 87% in PV, 67% in ET, and 66% in CIM. 16949922

2006

dbSNP: rs77375493
rs77375493
0.800 GeneticVariation BEFREE We detected the JAK2 V617F mutation in B and NK cells in approximately half the patients with IMF and a minority of those with PV. 16954506

2007