Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs8176719
rs8176719
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C1861172
Disease:
Venous Thromboembolism
0.830 GeneticVariation BEFREE Our findings suggest that the risk of VTE by FHMI is not explained by rs8176719 (ABO), rs6025 (F5), rs1799963 (F2), rs2066865 (FGG), and rs2036914 (F11). 31124268 2019
dbSNP: rs8176719
rs8176719
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C1861172
Disease:
Venous Thromboembolism
0.830 GeneticVariation BEFREE Our data suggest that SNPs ABO rs8176719 and FGG rs2066865 may contribute individually to the VTE susceptibility in the Portuguese population. 29995659 2018
dbSNP: rs8176719
rs8176719
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C1861172
Disease:
Venous Thromboembolism
0.830 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
dbSNP: rs8176719
rs8176719
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C1861172
Disease:
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: rs8176719
rs8176719
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C1861172
Disease:
Venous Thromboembolism
G 0.830 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
dbSNP: rs2519093
rs2519093
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C1861172
Disease:
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
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C1861172
Disease:
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
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C1861172
Disease:
Venous Thromboembolism
A 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
dbSNP: rs2519093
rs2519093
Entrez Id: 28
Gene Symbol: ABO
ABO
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
dbSNP: rs2519093
rs2519093
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C1861172
Disease:
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
Entrez Id: 28
Gene Symbol: ABO
ABO
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
dbSNP: rs505922
rs505922
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C0013295
Disease:
Duodenal Ulcer
0.810 GeneticVariation BEFREE 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
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C0013295
Disease:
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
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C0013295
Disease:
Duodenal Ulcer
T 0.810 GeneticVariation GWASDB 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: rs507666
rs507666
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C1445957
Disease:
Serum total cholesterol measurement
0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs687289
rs687289
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C2239219
Disease:
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
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C1861172
Disease:
Venous Thromboembolism
A 0.800 GeneticVariation GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
dbSNP: rs507666
rs507666
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C1445957
Disease:
Serum total cholesterol measurement
G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs643434
rs643434
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C0201657
Disease:
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: rs8176749
rs8176749
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean
0.800 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs505922
rs505922
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C2239219
Disease:
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: rs612169
rs612169
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C2239219
Disease:
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: rs529565
rs529565
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C1861172
Disease:
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: rs507666
rs507666
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C1445957
Disease:
Serum total cholesterol measurement
A 0.800 GeneticVariation GWASCAT The impact of low-frequency and rare variants on lipid levels. 25961943 2015
dbSNP: rs529565
rs529565
Entrez Id: 28
Gene Symbol: ABO
ABO
CUI: C1861172
Disease:
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