Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs657152
rs657152
ABO
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		T 0.700 GeneticVariation GWASCAT Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. 18940312

2008
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: rs505922
rs505922
ABO
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		C 0.740 GeneticVariation GWASCAT We identified an association between a locus on 9q34 and pancreatic cancer marked by the SNP rs505922 (combined P = 5.37 x 10(-8); multiplicative per-allele odds ratio 1.20; 95% confidence interval 1.12-1.28). 19648918

2009
dbSNP: rs8176746
rs8176746
ABO
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		T 0.800 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978

2010
dbSNP: rs8176746
rs8176746
ABO
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		T 0.700 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978

2010
dbSNP: rs687621
rs687621
ABO
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.800 GeneticVariation GWASCAT Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium. 20231535

2010
dbSNP: rs687289
rs687289
ABO
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		0.700 GeneticVariation GWASCAT Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium. 20231535

2010
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: rs514659
rs514659
ABO
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		C 0.700 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: rs657152
rs657152
ABO
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		G 0.700 GeneticVariation GWASCAT Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393

2011
dbSNP: rs657152
rs657152
ABO
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		G 0.700 GeneticVariation GWASCAT Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393

2011
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: rs643434
rs643434
ABO
CUI: C3897558
Disease: Soluble Interleukin 6 Receptor Measurement
Soluble Interleukin 6 Receptor Measurement 		A 0.700 GeneticVariation GWASCAT A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. 22291609

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: 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 		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: rs687621
rs687621
ABO
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		A 0.800 GeneticVariation GWASCAT Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. 22703881

2012
dbSNP: rs8176719
rs8176719
ABO
CUI: C0024530
Disease: Malaria
Malaria 		G 0.800 GeneticVariation GWASCAT Genome-wide association study indicates two novel resistance loci for severe malaria. 22895189

2012
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
CUI: C3897558
Disease: Soluble Interleukin 6 Receptor Measurement
Soluble Interleukin 6 Receptor Measurement 		A 0.700 GeneticVariation GWASCAT Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661

2012
dbSNP: rs8176749
rs8176749
ABO
CUI: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement 		C 0.700 GeneticVariation GWASCAT Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association. 23267103

2013
dbSNP: rs8176749
rs8176749
ABO
CUI: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement 		T 0.700 GeneticVariation GWASCAT Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association. 23267103

2013
dbSNP: rs8176704
rs8176704
ABO
CUI: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement 		G 0.700 GeneticVariation GWASCAT Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association. 23267103

2013
dbSNP: rs8176704
rs8176704
ABO
CUI: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement 		A 0.700 GeneticVariation GWASCAT Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association. 23267103

2013
dbSNP: rs687289
rs687289
ABO
CUI: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement 		G 0.700 GeneticVariation GWASCAT Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association. 23267103

2013