Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs895580593
rs895580593
RUNX1
0.010 GeneticVariation BEFREE We generated an iPSC line (GENYOi005-A) from a FPDMM patient with a non-previously reported variant p.Thr196Ala. 31698193

2019
dbSNP: rs1060499616
rs1060499616
RUNX1 ; LOC112267915
T 0.800 CausalMutation CLINVAR Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512

1999
dbSNP: rs1060499616
rs1060499616
RUNX1 ; LOC112267915
T 0.800 GeneticVariation CLINVAR Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512

1999
dbSNP: rs1060499616
rs1060499616
RUNX1 ; LOC112267915
T 0.800 CausalMutation CLINVAR RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins. 23848403

2013
dbSNP: rs1060499616
rs1060499616
RUNX1 ; LOC112267915
T 0.800 CausalMutation CLINVAR Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets. 26175287

2015
dbSNP: rs1060499616
rs1060499616
RUNX1 ; LOC112267915
T 0.800 CausalMutation CLINVAR In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. 11830488

2002
dbSNP: rs1060499616
rs1060499616
RUNX1 ; LOC112267915
T 0.800 CausalMutation CLINVAR Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders. 28960434

2018
dbSNP: rs1060499616
rs1060499616
RUNX1 ; LOC112267915
T 0.800 CausalMutation CLINVAR Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes. 25840971

2015
dbSNP: rs74315450
rs74315450
RUNX1
T 0.800 CausalMutation CLINVAR Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. 17290219

2007
dbSNP: rs74315450
rs74315450
RUNX1
T 0.800 CausalMutation CLINVAR Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia. 28748566

2017
dbSNP: rs74315450
rs74315450
RUNX1
T 0.800 CausalMutation CLINVAR Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders. 27112265

2016
dbSNP: rs74315450
rs74315450
RUNX1
T 0.800 CausalMutation CLINVAR RUNX1 meets MLL: epigenetic regulation of hematopoiesis by two leukemia genes. 23817177

2013
dbSNP: rs74315450
rs74315450
RUNX1
T 0.800 CausalMutation CLINVAR In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. 11830488

2002
dbSNP: rs74315450
rs74315450
RUNX1
T 0.800 CausalMutation CLINVAR Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes. 25840971

2015
dbSNP: rs74315450
rs74315450
RUNX1
T 0.800 CausalMutation CLINVAR Functional features of RUNX1 mutants in acute transformation of chronic myeloid leukemia and their contribution to inducing murine full-blown leukemia. 22318203

2012
dbSNP: rs74315450
rs74315450
RUNX1
T 0.800 CausalMutation CLINVAR RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins. 23848403

2013
dbSNP: rs74315450
rs74315450
RUNX1
T 0.800 CausalMutation CLINVAR Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512

1999
dbSNP: rs1057519748
rs1057519748
RUNX1
A 0.700 CausalMutation CLINVAR T cell acute lymphoblastic leukemia arising from familial platelet disorder. 20549580

2010
dbSNP: rs1057519748
rs1057519748
RUNX1
A 0.700 CausalMutation CLINVAR Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512

1999
dbSNP: rs1057519748
rs1057519748
RUNX1
A 0.700 CausalMutation CLINVAR A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: can these families serve as a multistep model for leukemic transformation? 19387465

2009
dbSNP: rs1057519748
rs1057519748
RUNX1
A 0.700 CausalMutation CLINVAR Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree. 28513614

2017
dbSNP: rs1060502579
rs1060502579
RUNX1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs121912498
rs121912498
RUNX1
C 0.700 CausalMutation CLINVAR In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. 11830488

2002
dbSNP: rs121912498
rs121912498
RUNX1
C 0.700 CausalMutation CLINVAR RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins. 23848403

2013
dbSNP: rs121912498
rs121912498
RUNX1
C 0.700 CausalMutation CLINVAR Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. 17290219

2007