rs2519093, ABO

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.820 GeneticVariation GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
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
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.820 GeneticVariation GWASDB 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
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.820 GeneticVariation BEFREE 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
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
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
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.820 GeneticVariation BEFREE Among 2927 individuals, one or more SNPs within ABO, F2, F5, F11, KLKB1, SELP and SCUBE1 were significantly associated with VTE, including factor (F) V Leiden, prothrombin G20210A, ABO non-O blood type, and a novel association with ABO rs2519093 (OR=1.68, P-value=8.08×10(-16) ) that was independent of blood type. 21463476 2011
E-selectin Measurement
CUI: C4722217
Disease: E-selectin Measurement
0.700 GeneticVariation GWASCAT Genome-wide association study identifies seven novel loci associating with circulating cytokines and cell adhesion molecules in Finns. 31217265 2019
White Blood Cell Count procedure
CUI: C0023508
Disease: White Blood Cell Count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Eosinophil count procedure
CUI: C0200638
Disease: Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Hemoglobin measurement
CUI: C0518015
Disease: Hemoglobin measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
Red Blood Cell Count measurement
CUI: C0014772
Disease: 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
Allergic rhinitis (disorder)
CUI: C2607914
Disease: Allergic rhinitis (disorder)
0.700 GeneticVariation GWASCAT Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis. 30013184 2018
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
Alkaline phosphatase measurement
CUI: C0201850
Disease: 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
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
Hematocrit procedure
CUI: C0018935
Disease: Hematocrit procedure
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
Allergic Reaction
CUI: C1527304
Disease: Allergic Reaction
0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.700 GeneticVariation GWASCAT A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. 26343387 2015
Venous Thrombosis
CUI: C0042487
Disease: Venous Thrombosis
0.700 GeneticVariation GWASDB Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis. 22675575 2012
Paroxysmal nocturnal hemoglobinuria
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
0.010 GeneticVariation BEFREE Multivariate regression analysis showed larger PNH clone and genotypes with rs495828/rs2519093 minor allele as independent risk factors for thrombosis in PNH. 29190926 2017