RUNX1, RUNX family transcription factor 1, 861

N. diseases: 412; N. variants: 75
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499616
rs1060499616
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		0.800 GeneticVariation UNIPROT
dbSNP: rs1060502579
rs1060502579
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555889984
rs1555889984
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1334068
Disease:
Hypercellular bone marrow 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555889984
rs1555889984
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0015672
Disease:
Fatigue 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555889984
rs1555889984
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0030312
Disease:
Pancytopenia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555889984
rs1555889984
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555889984
rs1555889984
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0015967
Disease:
Fever 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555899813
rs1555899813
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		TCC 0.700 CausalMutation CLINVAR
dbSNP: rs1569061762
rs1569061762
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0040034
Disease:
Thrombocytopenia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1569061768
rs1569061768
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0040034
Disease:
Thrombocytopenia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1569084116
rs1569084116
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1569084530
rs1569084530
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		GCGCCGGCGTCCGGGGCGCCCAGCGGCAA 0.700 CausalMutation CLINVAR
dbSNP: rs267607026
rs267607026
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587776809
rs587776809
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060499616
rs1060499616
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.800 CausalMutation CLINVAR Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512 1999
dbSNP: rs1060499616
rs1060499616
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.800 GeneticVariation CLINVAR Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512 1999
dbSNP: rs74315450
rs74315450
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		0.800 GeneticVariation UNIPROT Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512 1999
dbSNP: rs74315450
rs74315450
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.800 CausalMutation CLINVAR Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512 1999
dbSNP: rs1057519748
rs1057519748
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation CLINVAR Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512 1999
dbSNP: rs1057519748
rs1057519748
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		A 0.700 CausalMutation CLINVAR Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512 1999
dbSNP: rs1569061768
rs1569061768
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		A 0.700 CausalMutation CLINVAR Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512 1999
dbSNP: rs1060499616
rs1060499616
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		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
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		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: rs121912498
rs121912498
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		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: rs121912499
rs121912499
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 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