Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs8176719
rs8176719
ABO
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
G 0.830 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: 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: rs505922
rs505922
ABO
CUI: C0013295
Disease: Duodenal Ulcer
Duodenal Ulcer
T 0.810 GeneticVariation GWASCAT The T allele of rs2294008 encodes a translation initiation codon upstream of the reported site and changes protein localization from the cytoplasm to the cell surface. rs505922 at ABO was also associated with duodenal ulcer in a recessive model (OR = 1.32; P = 1.15 × 10(-10)). 22387998

2012

dbSNP: rs505922
rs505922
ABO
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test)
C 0.800 GeneticVariation GWASCAT Genetic Drivers of von Willebrand Factor Levels in an Ischemic Stroke Population and Association With Risk for Recurrent Stroke. 28495826

2017

dbSNP: rs505922
rs505922
ABO
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.800 GeneticVariation GWASCAT Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis. 23612905

2013

dbSNP: rs505922
rs505922
ABO
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test)
T 0.800 GeneticVariation GWASCAT Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943

2013

dbSNP: rs505922
rs505922
ABO
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
C 0.800 GeneticVariation GWASCAT Genetics of venous thrombosis: insights from a new genome wide association study. 21980494

2011

dbSNP: rs505922
rs505922
ABO
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
C 0.800 GeneticVariation GWASCAT Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach. 19278955

2009

dbSNP: rs507666
rs507666
ABO
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584

2019

dbSNP: rs507666
rs507666
ABO
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422

2018

dbSNP: rs507666
rs507666
ABO
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
A 0.800 GeneticVariation GWASCAT The impact of low-frequency and rare variants on lipid levels. 25961943

2015

dbSNP: rs507666
rs507666
ABO
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
A 0.800 GeneticVariation GWASCAT A genome wide association study identifies common variants associated with lipid levels in the Chinese population. 24386095

2013

dbSNP: rs514659
rs514659
ABO
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
C 0.800 GeneticVariation GWASCAT Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. 21239051

2011

dbSNP: rs529565
rs529565
ABO
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
C 0.800 GeneticVariation GWASCAT Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis. 26908601

2016

dbSNP: rs529565
rs529565
ABO
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
C 0.800 GeneticVariation GWASCAT Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism. 25772935

2015

dbSNP: rs612169
rs612169
ABO
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test)
G 0.800 GeneticVariation GWASCAT Connecting genetic risk to disease end points through the human blood plasma proteome. 28240269

2017

dbSNP: rs643434
rs643434
ABO
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
A 0.800 GeneticVariation GWASCAT Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. 30388399

2018

dbSNP: rs643434
rs643434
ABO
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test)
G 0.800 GeneticVariation GWASCAT Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943

2013

dbSNP: rs644234
rs644234
ABO
CUI: C0202202
Disease: Protein measurement
Protein measurement
G 0.800 GeneticVariation GWASCAT A genome-wide association study of circulating galectin-3. 23056639

2012

dbSNP: rs657152
rs657152
ABO
Thyroid stimulating hormone measurement
A 0.800 GeneticVariation GWASCAT A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. 23408906

2013

dbSNP: rs687289
rs687289
ABO
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test)
A 0.800 GeneticVariation GWASCAT Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels. 30586737

2019

dbSNP: rs687289
rs687289
ABO
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
A 0.800 GeneticVariation GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334

2019

dbSNP: rs687621
rs687621
ABO
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
G 0.800 GeneticVariation GWASCAT A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. 23650146

2013