Source: BEFREE

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
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
ABO
CUI: C1861172
Disease: Venous Thromboembolism
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
ABO
CUI: C1861172
Disease: Venous Thromboembolism
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: rs2519093
rs2519093
ABO
CUI: C1861172
Disease: Venous Thromboembolism
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
ABO
CUI: C1861172
Disease: Venous Thromboembolism
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
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: 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 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: 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

dbSNP: rs505922
rs505922
ABO
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.720 GeneticVariation BEFREE We found that rs579459 and rs505922 within ABO gene and their interaction were both associated with increased IS risk in Chinese population. 28984382

2018

dbSNP: rs505922
rs505922
ABO
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.720 GeneticVariation BEFREE SNP rs505922 was nominally associated with ischemic stroke (odds ratio = 0.94, 95% confidence interval = 0.88-0.99, p = 0.023). 23381943

2013

dbSNP: rs529565
rs529565
ABO
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.720 GeneticVariation BEFREE We did not find any relation of rs651007 and rs529565 with IS risk in both additive and dominant models. 28984382

2018

dbSNP: rs529565
rs529565
ABO
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.720 GeneticVariation BEFREE We selected four single nucleotide polymorphisms (rs579459, rs651007, rs514659 and rs529565) of the ABO gene and performed genotyping assays to assess the association with ischemic stroke and its subtypes. 27542834

2016

dbSNP: rs505922
rs505922
ABO
Diabetes Mellitus, Non-Insulin-Dependent
0.710 GeneticVariation BEFREE These data indicate that the previously identified elevated risk of type 2 diabetes for carriers of the <i>ABO</i> rs505922:C allele may be caused by decreased early-phase insulin secretion. 31537524

2019

dbSNP: rs505922
rs505922
ABO
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.020 GeneticVariation BEFREE Although rs505922 was not associated with LAA stroke (TT genotype, adjusted OR = 1.32; 95 % CI, 0.94 to 1.87), two novel SNPs, rs8176668 (AT genotype, adjusted OR = 0.71; 95 % CI, 0.55 to 0.92) and rs2073824 (AA genotype, adjusted OR = 0.72; 95 % CI, 0.57 to 0.92), were associated with LAA stroke. 26924317

2017

dbSNP: rs505922
rs505922
ABO
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 GeneticVariation BEFREE Carriers of the C allele of rs505922 had an increased cancer risk [adjusted odds ratio (OR) = 1.42, 95% confidence interval (CI): 1.02-1.98] compared to TT carriers. 23816557

2014

dbSNP: rs505922
rs505922
ABO
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 GeneticVariation BEFREE Carriers of the C allele of rs505922 had an increased cancer risk [adjusted odds ratio (OR) = 1.42, 95% confidence interval (CI): 1.02-1.98] compared to TT carriers. 23816557

2014

dbSNP: rs505922
rs505922
ABO
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.020 GeneticVariation BEFREE Independent replication in Meta-Stroke confirmed the rs505922 association with stroke, beta (standard error, SE) = 0.066 (0.02), p = 0.001, a finding specific to large-vessel and cardioembolic stroke (p = 0.001 and p = < 0.001, respectively) but not seen with small-vessel stroke (p = 0.811). 23381943

2013