Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2519093
rs2519093
ABO
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		T 0.820 GeneticVariation GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334

2019
dbSNP: rs2519093
rs2519093
ABO
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		T 0.820 GeneticVariation GWASCAT Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates Obesity as a Causal Risk Factor. 28373160

2017
dbSNP: rs2519093
rs2519093
ABO
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		A 0.820 GeneticVariation GWASCAT ABO re-sequencing identified 15 novel single nucleotide variations (SNV) in ABO intron 6 and the ABO 3' UTR that were strongly associated with VTE (P<10(-4)) and belonged to three distinct linkage disequilibrium (LD) blocks; none were in LD with ABO rs8176719 or rs2519093. 22672568

2012
dbSNP: rs2519093
rs2519093
ABO
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs2519093
rs2519093
ABO
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs2519093
rs2519093
ABO
CUI: C4722217
Disease: E-selectin Measurement
E-selectin Measurement 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies seven novel loci associating with circulating cytokines and cell adhesion molecules in Finns. 31217265

2019
dbSNP: rs2519093
rs2519093
ABO
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		T 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778

2018
dbSNP: rs2519093
rs2519093
ABO
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs2519093
rs2519093
ABO
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs2519093
rs2519093
ABO
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531

2018
dbSNP: rs2519093
rs2519093
ABO
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		T 0.700 GeneticVariation GWASCAT Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis. 30013184

2018
dbSNP: rs2519093
rs2519093
ABO
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs2519093
rs2519093
ABO
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		C 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422

2018
dbSNP: rs2519093
rs2519093
ABO
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs2519093
rs2519093
ABO
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488

2018
dbSNP: rs2519093
rs2519093
ABO
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		C 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422

2018
dbSNP: rs2519093
rs2519093
ABO
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965

2016
dbSNP: rs2519093
rs2519093
ABO
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		T 0.700 GeneticVariation GWASCAT A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. 26343387

2015