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: 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: 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: 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: rs2014300
rs2014300
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus 		G 0.720 GeneticVariation GWASCAT Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. 25129146 2014
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: rs11088309
rs11088309
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0741260
Disease:
Adult onset asthma 		G 0.700 GeneticVariation GWASCAT Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies. 31036433 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: rs11088309
rs11088309
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0004096
Disease:
Asthma 		G 0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs117440128
rs117440128
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0948008
Disease:
Ischemic stroke 		A 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis of functional outcome after ischemic stroke. 30796134 2019
dbSNP: rs1555889984
rs1555889984
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		A 0.700 CausalMutation CLINVAR A novel germline RUNX1 mutation with co-occurrence of somatic alterations in a case of myeloid neoplasm with familial thrombocytopenia: first report from India. 30990344 2019
dbSNP: rs1569008655
rs1569008655
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0040034
Disease:
Thrombocytopenia 		A 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
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: 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: rs2834787
rs2834787
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0004096
Disease:
Asthma 		G 0.700 GeneticVariation GWASCAT Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis. 31619474 2019
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
dbSNP: rs8126516
rs8126516
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0035242
Disease:
Respiratory Tract Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs8133974
rs8133974
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: rs9979383
rs9979383
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0035242
Disease:
Respiratory Tract Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs9979383
rs9979383
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