Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1169288572
rs1169288572
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation UNIPROT

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 The JAK2 V617F mutation in de novo acute myelogenous leukemias. 16247455

2006

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: rs121913487
rs121913487
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation UNIPROT

dbSNP: rs1466524306
rs1466524306
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation UNIPROT

dbSNP: rs267607040
rs267607040
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation UNIPROT SETBP1 mutation analysis in 944 patients with MDS and AML. 23648668

2013

dbSNP: rs267607040
rs267607040
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation UNIPROT Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. 23889083

2013

dbSNP: rs28931590
rs28931590
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation UNIPROT Mutations of CEBPA in acute myeloid leukemia FAB types M1 and M2. 12661007

2003

dbSNP: rs28931590
rs28931590
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation UNIPROT Acute myeloblastic leukaemias in adult patients: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. 23970018

2013

dbSNP: rs28931590
rs28931590
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation UNIPROT NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. 22138009

2011

dbSNP: rs28931590
rs28931590
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation UNIPROT Mutation of CEBPA in familial acute myeloid leukemia. 15575056

2004

dbSNP: rs28931590
rs28931590
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.800 GeneticVariation UNIPROT Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBPalpha), in acute myeloid leukemia. 11242107

2001

dbSNP: rs569067880
rs569067880
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation UNIPROT

dbSNP: rs754921650
rs754921650
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation UNIPROT Solution structure of the Set2-Rpb1 interacting domain of human Set2 and its interaction with the hyperphosphorylated C-terminal domain of Rpb1. 16314571

2005

dbSNP: rs754921650
rs754921650
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation UNIPROT Identification of functional cooperative mutations of SETD2 in human acute leukemia. 24509477

2014

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