Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.740 GeneticVariation BEFREE The FLT3 receptor tyrosine kinase plays an integral role in hematopoiesis, and one third of AML diagnoses exhibit gain-of-function mutations in FLT3, with the juxtamembrane domain internal tandem duplication (ITD) and the kinase domain D835Y variants observed most frequently. 30541869

2019

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.740 GeneticVariation BEFREE Retroviral expression of FLT3-N676K in myeloid 32D cells induced AML in syngeneic C3H/HeJ mice (n = 11/13, median latency 58 days), with a transforming activity similar to FLT3-internal tandem duplication (ITD) (n = 8/8), FLT3-TKD D835Y (n = 8/9), and FLT3-ITD-N676K (n = 9/9) mutations. 26891877

2016

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
G 0.740 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
A 0.740 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
G 0.740 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: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
G 0.740 CausalMutation CLINVAR Activity of ponatinib against clinically-relevant AC220-resistant kinase domain mutants of FLT3-ITD. 23430109

2013

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.740 CausalMutation CLINVAR Mutational landscape of AML with normal cytogenetics: biological and clinical implications. 23261068

2013

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.740 CausalMutation CLINVAR Activity of ponatinib against clinically-relevant AC220-resistant kinase domain mutants of FLT3-ITD. 23430109

2013

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
A 0.740 CausalMutation CLINVAR Prospective evaluation of gene mutations and minimal residual disease in patients with core binding factor acute myeloid leukemia. 23321257

2013

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
G 0.740 CausalMutation CLINVAR In addition, crenolanib inhibited drug-resistant AML primary blasts with FLT3-ITD and D835H/Y mutations. 24046014

2013

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.740 GeneticVariation BEFREE In addition, crenolanib inhibited drug-resistant AML primary blasts with FLT3-ITD and D835H/Y mutations. 24046014

2013

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
A 0.740 CausalMutation CLINVAR Activity of ponatinib against clinically-relevant AC220-resistant kinase domain mutants of FLT3-ITD. 23430109

2013

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
A 0.740 CausalMutation CLINVAR The role of kinase inhibitors in the treatment of patients with acute myeloid leukemia. 23714533

2013

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
G 0.740 CausalMutation CLINVAR The role of kinase inhibitors in the treatment of patients with acute myeloid leukemia. 23714533

2013

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
A 0.740 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: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.740 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: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
G 0.740 CausalMutation CLINVAR Prospective evaluation of gene mutations and minimal residual disease in patients with core binding factor acute myeloid leukemia. 23321257

2013

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
A 0.740 CausalMutation CLINVAR Mutational landscape of AML with normal cytogenetics: biological and clinical implications. 23261068

2013

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
G 0.740 CausalMutation CLINVAR Mutational landscape of AML with normal cytogenetics: biological and clinical implications. 23261068

2013

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.740 CausalMutation CLINVAR The role of kinase inhibitors in the treatment of patients with acute myeloid leukemia. 23714533

2013

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.740 CausalMutation CLINVAR Prospective evaluation of gene mutations and minimal residual disease in patients with core binding factor acute myeloid leukemia. 23321257

2013

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
A 0.740 CausalMutation CLINVAR Crowding induces live cell extrusion to maintain homeostatic cell numbers in epithelia. 22504183

2012

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.740 CausalMutation CLINVAR Sorafenib treatment of FLT3-ITD(+) acute myeloid leukemia: favorable initial outcome and mechanisms of subsequent nonresponsiveness associated with the emergence of a D835 mutation. 22368270

2012

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
G 0.740 CausalMutation CLINVAR Validation of ITD mutations in FLT3 as a therapeutic target in human acute myeloid leukaemia. 22504184

2012

dbSNP: rs121913488
rs121913488
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
A 0.740 CausalMutation CLINVAR Sorafenib treatment of FLT3-ITD(+) acute myeloid leukemia: favorable initial outcome and mechanisms of subsequent nonresponsiveness associated with the emergence of a D835 mutation. 22368270

2012