Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		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
JAK2 ; INSL6
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		0.800 GeneticVariation BEFREE Identification of the Val617Phe JAK2 mutation lays the foundation for new approaches to the diagnosis, classification, and treatment of myeloproliferative disorders. 15781101

2005
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		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
JAK2 ; INSL6
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.900 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
JAK2 ; INSL6
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		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
JAK2 ; INSL6
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.100 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
JAK2 ; INSL6
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		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
JAK2 ; INSL6
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		0.800 GeneticVariation BEFREE The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes. 15860661

2005
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis 		0.100 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
JAK2 ; INSL6
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.100 GeneticVariation BEFREE Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), 101 with MDS, 11 with hypereosinophilic syndrome (HES), 8 with systemic mastocytosis (SM), and 6 with chronic neutrophilic leukemia (CNL)--was screened for the JAK2 V617F mutation. 15860661

2005
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.100 GeneticVariation BEFREE The current observation strengthens the specific association between JAK2 V617F and classic MPD, but also suggests an infrequent occurrence in other myeloid disorders. 15860661

2005
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		0.080 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
JAK2 ; INSL6
CUI: C0023481
Disease: Chronic Neutrophilic Leukemia
Chronic Neutrophilic Leukemia 		0.040 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
JAK2 ; INSL6
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.040 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
JAK2 ; INSL6
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		0.020 GeneticVariation BEFREE Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), 101 with MDS, 11 with hypereosinophilic syndrome (HES), 8 with systemic mastocytosis (SM), and 6 with chronic neutrophilic leukemia (CNL)--was screened for the JAK2 V617F mutation. 15860661

2005
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.010 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
JAK2 ; INSL6
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.010 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
JAK2 ; INSL6
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.010 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
JAK2 ; INSL6
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.900 GeneticVariation BEFREE V617F was not identified in patients with systemic mastocytosis (n = 28), chronic or acute myeloid leukemia (n = 35), secondary erythrocytosis (n = 4), or healthy controls (n = 160). 15920007

2005
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.100 GeneticVariation BEFREE We conclude that V617F is widespread in MPDs. 15920007

2005
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		0.060 GeneticVariation BEFREE V617F was not identified in patients with systemic mastocytosis (n = 28), chronic or acute myeloid leukemia (n = 35), secondary erythrocytosis (n = 4), or healthy controls (n = 160). 15920007

2005
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.040 GeneticVariation BEFREE V617F was not identified in patients with systemic mastocytosis (n = 28), chronic or acute myeloid leukemia (n = 35), secondary erythrocytosis (n = 4), or healthy controls (n = 160). 15920007

2005
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.100 GeneticVariation BEFREE We conclude that the JAK2 1849G>T mutation is common in Ph(-) MPD but not critical for transformation to the acute phase of these diseases and that it is generally rare in aggressive leukemias. 16037387

2005
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.030 GeneticVariation BEFREE JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. 16037387

2005
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		0.020 GeneticVariation BEFREE JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. 16037387

2005