Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE Acute myeloid leukemia with MYC rearrangement and JAK2 V617F mutation. 26382622

2016

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE JAK2(V617F)-negative cases showed worsening of such score or evolution to acute myeloid leukemia. 26271725

2016

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation CLINVAR Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3 and mTOR/p70S6K/4EBP1 in PVTL-1 cell line newly established from acute myeloid leukemia transformed from polycythemia vera. 24404189

2014

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3 and mTOR/p70S6K/4EBP1 in PVTL-1 cell line newly established from acute myeloid leukemia transformed from polycythemia vera. 24404189

2014

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation CLINVAR Long term follow up of 93 families with myeloproliferative neoplasms: life expectancy and implications of JAK2V617F in the occurrence of complications. 22818858

2013

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation CLINVAR Secondary genetic lesions in acute myeloid leukemia with inv(16) or t(16;16): a study of the German-Austrian AML Study Group (AMLSG). 23115274

2013

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation CLINVAR A case of myeloid sarcoma with correlation to JAK2V617F mutation, complicated by myelofibrosis and secondary acute myeloid leukemia. 22041374

2012

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation CLINVAR Phase 2 study of the JAK kinase inhibitor ruxolitinib in patients with refractory leukemias, including postmyeloproliferative neoplasm acute myeloid leukemia. 22422826

2012

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation CLINVAR The oral HDAC inhibitor pracinostat (SB939) is efficacious and synergistic with the JAK2 inhibitor pacritinib (SB1518) in preclinical models of AML. 22829971

2012

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML). 22571758

2012

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE In the test of blind screening of 223 samples (111 Ph- MPNs, 60 Ph+ chronic myeloid leukemia, and 52 acute myeloid leukemia), JAK2 V617F mutations were found in 78 (70%) patients with MPNs, but in none with chronic and acute myeloid leukemia. 21786333

2012

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE As his complete blood count included a few myeloid blasts (1% of WBC) and a bone marrow biopsy detected fibrosis without evidence of acute myelogenous leukemia (AML), a diagnosis of extramedullary blastic transformation of PMF was made, which was confirmed later by V617F mutation in Janus kinase-2 in both initial bone marrow biopsy and axillary tumor biopsy specimens. 22612514

2012

dbSNP: rs77375493
rs77375493
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
0.900 GeneticVariation CLINVAR De novo childhood myelodysplastic/myeloproliferative disease with unique molecular characteristics. 22571758

2012

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation CLINVAR A patient with a 20-year lag phase between JAK2-V617F+ myeloproliferation and NPM1-mutated AML arguing against a common origin of disease. 21689158

2011

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE We found the patient to be JAK2-V617F mutation positive throughout the course of disease, while a mutation of the nucleophosmin (NPM1) gene emerged at AML diagnosis and relapse. 21689158

2011

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE They include the BCR/ABL in CML, the V617F JAK2 in Philadelphia chromosome-negative MPN, and the Flt3 ITD and TKD mutations in AML. 20809224

2011

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation CLINVAR JAK2 V617F mutation in myelodysplastic syndrome, myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable, refractory anemia with ring sideroblasts with thrombocytosis, and acute myeloid leukemia. 21120162

2010

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation CLINVAR AML1 is overexpressed in patients with myeloproliferative neoplasms and mediates JAK2V617F-independent overexpression of NF-E2. 20339092

2010

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation CLINVAR A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications. 20631743

2010

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE A JAK2 V617F mutation was identified in one patient who had acute myeloid leukemia with concurrent mast cell disease. 20153505

2010

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abnormalities in patients with atypical myeloproliferative syndromes (MPD), including myeloproliferative/myelodysplastic syndrome overlap both positive and negative for the JAK2 V617F mutation and secondary acute myeloid leukemia (AML). 18030353

2008

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE We conclude that JAK2-V617F-positive MPD frequently yields JAK2-V617F-negative AML, and transformation of a common JAK2-V617F-negative ancestor represents a possible mechanism. 17363731

2007

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE JAK2 V617F mutations clustered in AML samples with an aberrant karyotype (p<0.05). 17229652

2007

dbSNP: rs77375493
rs77375493
0.900 GeneticVariation BEFREE JAK2(V617F) was identified in patients previously diagnosed with a myeloproliferative disorder or acute myeloid leukemia transformed from myeloproliferative disorder, whereas a wild-type genotype was identified in patients with reactive conditions or de novo acute myeloid leukemia. 16831057

2006