Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE In all of them (in 3 with JAK2 V617F mutation and 1 with CALR mutation), thrombocytosis was present at the time when complete cytogenetic response was documented. 29508552

2018

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE However, when a patient presents with isolated thrombocytosis and a positive JAK2 V617F assay, particularly a young woman, the possibility of PV must always be considered because of plasma volume expansion. 29516275

2018

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE Thrombocytosis and STAT5 activation in CML-T are not consistently associated with CALR exon 9 or JAK2 V617F mutation. 26754830

2016

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE Time free from cytoreduction was significantly shorter in CALR-mutated patients with essential thrombocythemia than in JAK2(V617F)-mutated ones (median time 5 years and 9.8 years, respectively; P=0.0002) and cytoreduction was usually necessary to control extreme thrombocytosis. 27175028

2016

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 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
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. 23057517

2013

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. 23594705

2013

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE In light of the findings from previous reports, screening for the JAK2-V617F mutation should be considered for any Ph(+) CML patients with thrombocytosis, leukocytosis, or erythrocytosis at diagnosis and for patients who subsequently develop thrombocytosis, leukocytosis, or erythrocytosis during follow-up, even for CML patients in complete cytogenetic response and major molecular response. 23613267

2013

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE Refractory anemia with ringed sideroblasts and thrombocytosis without JAK2 V617F mutation: report of three cases. 24399021

2013

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE Further investigations for intracoronary thrombus with no underlying atherosclerotic disease revealed positive Janus kinase 2 (JAK2) V617F gene mutation, and this was consistent with a diagnosis of ET with elevated platelet count. 22686448

2012

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE The V617F JAK2 mutation was absent within the patients with secondary erythrocytosis or thrombocytosis. 19939582

2011

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE These data also support the hypothesis that level of JAK2(V617F) expression influences the MPN phenotype: higher levels favor erythrocytosis whereas lower levels favor thrombocytosis. 21242185

2011

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3)/μL (600 × 10(9)/L), and may represent an MDS or MPN with thrombocytosis of unknown mechanisms. 21350094

2011

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE In V617F-transgenic mice that closely mimic human primary myelofibrosis, R723 treatment improved survival, hepatosplenomegaly, leukocytosis, and thrombocytosis. 21531978

2011

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis. 20194893

2010

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE A 66-year-old man who presented with progressive and marked thrombocytosis but normal hemoglobin was diagnosed to have essential thrombocythemia upon the demonstration of JAK2 V617F mutation. 20633767

2010

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE No association to thrombocytosis, JAK2(V617F) mutations or cytoreductive treatment (bone marrow cells) were observed. 18773208

2009

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE Higher levels of JAK2-V617F in mouse bone marrow by retroviral transduction caused a PV-like phenotype without thrombocytosis. 18160670

2008

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE The recently discovered mutations in patients with CMD (V617F and exon 12 of JAK2 gene, MPL gene), and those identified in hereditary erythrocytosis and in hereditary thrombocytosis have improved our ability to discriminate these conditions. 18484677

2008

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE His postoperative management included the examination of his peripheral blood as well as bone marrow, which confirmed that the cause of his elevated platelet count was due to JAK2 V617F mutation that is treated by hydroxyurea and aspirin after being discharged from the hospital. 18534315

2008

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE The two patients who developed thrombocythemia during infancy were JAK2 V617F-negative. 18802948

2008

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE Ph+ chronic myelogenous leukemia (four cases), reactive (secondary) erythrocytosis (14 cases), and thrombocytosis (one case) as well as normal controls (19 cases) all lacked the V617F mutation. 16825501

2006

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE The observed biological difference in circulating granulocyte involvement by the JAK2 V617F clone necessitates a sensitive molecular assay for the diagnostic investigation of thrombocytosis. 16916724

2006

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE We show that transplantation of JAK2(V617F)-transduced bone marrow into BALB/c mice induces MPD reminiscent of human PV, characterized by erythrocytosis, granulocytosis, extramedullary hematopoiesis, and bone marrow fibrosis, but not thrombocytosis. 17145859

2006

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE The lack of thrombocytosis suggests that additional events may be required for JAK2 V617F to cause ET, but qualitative platelet abnormalities induced by JAK2 V617F may contribute to the hemostatic complications of PV. 17183644

2006