Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE JAK2 V617F mutations clustered in AML samples with an aberrant karyotype (p<0.05). 17229652

2007

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE Janus kinase2 V617F</span> was present in 13/162 AML samples (8%): 10/13 transformed MPD, and three apparent de novo AML (one of 12 AML-M6, one of 24 AML-M7, and one AML-M2 - all mixed clonality). 16598306

2006

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
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

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation UNIPROT None of the AML patients with the JAK2 V617F mutation had a history of previous hematologic disorders. 16247455

2006

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE None of the AML patients with the JAK2 V617F mutation had a history of previous hematologic disorders. 16247455

2006

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE The V617F mutation is present in blood and marrow from a large proportion of patients with classic BCR/ABL-negative chronic myeloproliferative disorders and of a few patients with other clonal hematological diseases such as myelodysplastic syndrome, atypical myeloproliferative disorders, and acute myeloid leukemia. 16931578

2006

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE We screened 79 acute myeloid leukemia (AML) cell lines and found five positive for JAK2 V617F (HEL, MB-02, MUTZ-8, SET-2, UKE-1), 4/5 with histories of MPD/MDS. 16408098

2006

dbSNP: rs77375493
rs77375493
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.900 CausalMutation CLINVAR

dbSNP: rs121912472
rs121912472
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.810 GeneticVariation BEFREE Thus our studies provide clues in understanding the leukemogenesis of JAK2 K607N mutation in AML. 30521925

2019

dbSNP: rs121912472
rs121912472
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.810 GeneticVariation UNIPROT Acute myeloblastic leukaemias in adult patients: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. 23970018

2013

dbSNP: rs121912472
rs121912472
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.810 GeneticVariation UNIPROT NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. 22138009

2011

dbSNP: rs121912472
rs121912472
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.810 GeneticVariation UNIPROT The JAK2 V617F mutation in de novo acute myelogenous leukemias. 16247455

2006

dbSNP: rs121912472
rs121912472
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
C 0.810 CausalMutation CLINVAR

dbSNP: rs121913487
rs121913487
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913487
rs121913487
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
C 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913487
rs121913487
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.800 CausalMutation CLINVAR Prospective evaluation of gene mutations and minimal residual disease in patients with core binding factor acute myeloid leukemia. 23321257

2013

dbSNP: rs121913487
rs121913487
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.800 CausalMutation CLINVAR Activity of ponatinib against clinically-relevant AC220-resistant kinase domain mutants of FLT3-ITD. 23430109

2013

dbSNP: rs121913487
rs121913487
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
C 0.800 CausalMutation CLINVAR Mutational landscape of AML with normal cytogenetics: biological and clinical implications. 23261068

2013

dbSNP: rs121913487
rs121913487
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.800 CausalMutation CLINVAR Mutational landscape of AML with normal cytogenetics: biological and clinical implications. 23261068

2013

dbSNP: rs121913487
rs121913487
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
C 0.800 CausalMutation CLINVAR Activity of ponatinib against clinically-relevant AC220-resistant kinase domain mutants of FLT3-ITD. 23430109

2013

dbSNP: rs121913487
rs121913487
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
C 0.800 CausalMutation CLINVAR Prospective evaluation of gene mutations and minimal residual disease in patients with core binding factor acute myeloid leukemia. 23321257

2013

dbSNP: rs121913487
rs121913487
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
C 0.800 CausalMutation CLINVAR The role of kinase inhibitors in the treatment of patients with acute myeloid leukemia. 23714533

2013

dbSNP: rs121913487
rs121913487
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
C 0.800 CausalMutation CLINVAR The importance of relative mutant level for evaluating impact on outcome of KIT, FLT3 and CBL mutations in core-binding factor acute myeloid leukemia. 23783394

2013

dbSNP: rs121913487
rs121913487
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.800 CausalMutation CLINVAR The importance of relative mutant level for evaluating impact on outcome of KIT, FLT3 and CBL mutations in core-binding factor acute myeloid leukemia. 23783394

2013