Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs505922
rs505922
ABO
CUI: C0013295
Disease: Duodenal Ulcer
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
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: C0013295
Disease: Duodenal Ulcer
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: 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: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		T 0.800 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943

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

2013
dbSNP: rs505922
rs505922
ABO
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.800 GeneticVariation GWASDB A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q. 22672568

2012
dbSNP: rs505922
rs505922
ABO
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		C 0.800 GeneticVariation GWASDB 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 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: rs505922
rs505922
ABO
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		C 0.800 GeneticVariation GWASDB 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 Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer. 29422604

2018
dbSNP: rs505922
rs505922
ABO
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.740 GeneticVariation GWASCAT Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. 26098869

2015
dbSNP: rs505922
rs505922
ABO
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.740 GeneticVariation BEFREE This study provided evidence of SNP rs505922 C allele as a strong risk factor of cancer susceptibility, specifically for pancreatic cancer. 25656610

2015
dbSNP: rs505922
rs505922
ABO
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.740 GeneticVariation BEFREE This study provided evidence of SNP rs505922 C allele as a strong risk factor of cancer susceptibility, specifically for pancreatic cancer. 25656610

2015
dbSNP: rs505922
rs505922
ABO
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.740 GeneticVariation BEFREE SNP rs505922, located within the first intron of the ABO gene, has been associated with the adenocarcinoma subtype of pancreatic cancer. 22642827

2012
dbSNP: rs505922
rs505922
ABO
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.740 GeneticVariation BEFREE SNP rs505922, located within the first intron of the ABO gene, has been associated with the adenocarcinoma subtype of pancreatic cancer. 22642827

2012
dbSNP: rs505922
rs505922
ABO
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.740 GeneticVariation BEFREE Consistent with earlier reports showing a higher risk of PC for individuals with the non-O blood type, the previously reported protective allele (T) for rs505922 was found to be strongly correlated (r(2) = 0.96) with the O allele. 21306478

2011
dbSNP: rs505922
rs505922
ABO
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.740 GeneticVariation BEFREE Consistent with earlier reports showing a higher risk of PC for individuals with the non-O blood type, the previously reported protective allele (T) for rs505922 was found to be strongly correlated (r(2) = 0.96) with the O allele. 21306478

2011
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: rs505922
rs505922
ABO
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		C 0.740 GeneticVariation GWASDB 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: rs505922
rs505922
ABO
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.740 GeneticVariation BEFREE 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: rs505922
rs505922
ABO
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.740 GeneticVariation BEFREE 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