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: 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: rs9979383
rs9979383
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.800 GeneticVariation GWASCAT Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis. 26546613 2016
dbSNP: rs9979383
rs9979383
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.800 GeneticVariation GWASCAT High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596 2012
dbSNP: rs9979383
rs9979383
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.800 GeneticVariation GWASDB High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596 2012
dbSNP: rs2014300
rs2014300
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus 		0.720 GeneticVariation BEFREE The RUNX1 variant rs2014300, which reduced risk in the Chinese population, was associated with an increased risk of OSCC in the Mixed Ancestry population [odds ratio (OR) = 1.33, 95% confidence interval (CI) = 1.09-1.63, P = 0.0055], and none of the five loci were associated in the Black population. 22865593 2012
dbSNP: rs2014300
rs2014300
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus 		0.720 GeneticVariation BEFREE RUNX1 rs2014300 was associated with risk of ESCC assuming codominant [AG/GG, 0.63(0.41-0.97), P:0.018], dominant [AG + AA/GG, 0.59 (0.39-0.89), P:0.010] and log-additive models [0.61 (0.42-0.87), P: 0.005]. 30666517 2019
dbSNP: rs11088309
rs11088309
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0741260
Disease:
Adult onset asthma 		0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs11701453
rs11701453
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		0.700 GeneticVariation GWASDB Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy. 20975947 2010
dbSNP: rs1883067
rs1883067
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2242886
rs2242886
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2834655
rs2834655
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2834655
rs2834655
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C2699541
Disease:
Cytokine Measurement 		0.700 GeneticVariation GWASDB Genome-wide association study of antibody response to smallpox vaccine. 22542470 2012
dbSNP: rs2834655
rs2834655
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2834684
rs2834684
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs68088846
rs68088846
Entrez Id: 861;102724584
Gene Symbol: RUNX1;LOC102724584
RUNX1;LOC102724584
CUI: C2678038
Disease:
Alopecia, Androgenetic, 2 		0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs68088846
rs68088846
Entrez Id: 861;102724584
Gene Symbol: RUNX1;LOC102724584
RUNX1;LOC102724584
CUI: C0029489
Disease:
Other alopecia 		0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs68088846
rs68088846
Entrez Id: 861;102724584
Gene Symbol: RUNX1;LOC102724584
RUNX1;LOC102724584
CUI: C4049090
Disease:
Alopecia, Androgenetic, 1 		0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs68088846
rs68088846
Entrez Id: 861;102724584
Gene Symbol: RUNX1;LOC102724584
RUNX1;LOC102724584
CUI: C2676272
Disease:
Alopecia, Androgenetic, 3 		0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs68088846
rs68088846
Entrez Id: 861;102724584
Gene Symbol: RUNX1;LOC102724584
RUNX1;LOC102724584
CUI: C0162311
Disease:
Androgenetic Alopecia 		0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs68088846
rs68088846
Entrez Id: 861;102724584
Gene Symbol: RUNX1;LOC102724584
RUNX1;LOC102724584
CUI: C4083212
Disease:
Alopecia, Male Pattern 		0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs73197346
rs73197346
Entrez Id: 861;100506403
Gene Symbol: RUNX1;LOC100506403
RUNX1;LOC100506403
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs73203093
rs73203093
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0013595
Disease:
Eczema 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs73900579
rs73900579
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs73900579
rs73900579
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019