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: rs9983044
rs9983044
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0202177
Disease:
Phospholipid measurement 		C 0.700 GeneticVariation GWASDB Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. 21829377 2011
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 		A 0.800 GeneticVariation GWASCAT High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci. 24532676 2015
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: 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
dbSNP: rs9979383
rs9979383
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0200638
Disease:
Eosinophil count procedure 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs9979383
rs9979383
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0007570
Disease:
Celiac Disease 		0.700 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: C0200641
Disease:
Blood basophil count (lab test) 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs9976876
rs9976876
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0005938
Disease:
Bone Density 		T 0.700 GeneticVariation GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378 2018
dbSNP: rs895580593
rs895580593
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		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: rs8133974
rs8133974
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0200641
Disease:
Blood basophil count (lab test) 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
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: rs8133974
rs8133974
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0200638
Disease:
Eosinophil count procedure 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs8133843
rs8133843
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		A 0.800 GeneticVariation GWASDB Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342 2014
dbSNP: rs8133843
rs8133843
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		A 0.800 GeneticVariation GWASCAT Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342 2014
dbSNP: rs8133843
rs8133843
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		A 0.800 GeneticVariation GWASCAT Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. 30423114 2019
dbSNP: rs8130963
rs8130963
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE RUNX1_rs8130963 (odds ratio (OR) = 2.25; 95 % CI 1.42-3.56; P = 0.0005; dominant model), TBX3_rs8853 (OR = 2.04; 95 % CI 1.38-3.01; P = 0.0003; dominant model), TBX3_rs1061651 (OR= 2.14; 95 % CI1.43-3.18; P = 0.0002; dominant model), TTN_rs12465459 (OR = 2.02; 95 % confidence interval 1.33-3.07; P = 0.0009; dominant model), were the most significantly associated SNPs with BC risk. 26920143 2016
dbSNP: rs8130963
rs8130963
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE RUNX1_rs8130963 (odds ratio (OR) = 2.25; 95 % CI 1.42-3.56; P = 0.0005; dominant model), TBX3_rs8853 (OR = 2.04; 95 % CI 1.38-3.01; P = 0.0003; dominant model), TBX3_rs1061651 (OR= 2.14; 95 % CI1.43-3.18; P = 0.0002; dominant model), TTN_rs12465459 (OR = 2.02; 95 % confidence interval 1.33-3.07; P = 0.0009; dominant model), were the most significantly associated SNPs with BC risk. 26920143 2016
dbSNP: rs8129030
rs8129030
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0200638
Disease:
Eosinophil count procedure 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs8129030
rs8129030
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0087031
Disease:
Juvenile-Onset Still Disease 		0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761 2013
dbSNP: rs8129030
rs8129030
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1384600
Disease:
Systemic onset juvenile chronic arthritis 		0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761 2013
dbSNP: rs8129030
rs8129030
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C2931171
Disease:
Juvenile pauciarticular chronic arthritis 		0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761 2013
dbSNP: rs8129030
rs8129030
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C3890205
Disease:
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative 		0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761 2013