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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 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: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement
0.700 GeneticVariation GWASCAT IDENTIFYING GENETIC ASSOCIATIONS WITH VARIABILITY IN METABOLIC HEALTH AND BLOOD COUNT LABORATORY VALUES: DIVING INTO THE QUANTITATIVE TRAITS BY LEVERAGING LONGITUDINAL DATA FROM AN EHR. 27897004

2017

dbSNP: rs505922
rs505922
ABO
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488

2018

dbSNP: rs505922
rs505922
ABO
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE Together, these data suggest that the minor allele of rs505922 and the resulting non-O blood types are not associated with increased risk or less favorable tumor characteristics or prognosis in breast cancer. 22642827

2012

dbSNP: rs505922
rs505922
ABO
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.700 GeneticVariation GWASDB 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: C1531624
Disease: Cardioembolic stroke
Cardioembolic stroke
0.010 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

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: 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

dbSNP: rs505922
rs505922
ABO
Diabetes Mellitus, Non-Insulin-Dependent
C 0.710 GeneticVariation GWASCAT Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes. 29358691

2018

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: 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: 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: C2242817
Disease: Homocysteine measurement
Homocysteine measurement
C 0.700 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
Infection caused by Helicobacter pylori
0.010 GeneticVariation BEFREE ABO (rs505922) and IL1B (rs1143627) may affect H pylori infection susceptibility, and IL1B (rs1143627) may also influence ID risk in infected children. 28727656

2018

dbSNP: rs505922
rs505922
ABO
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast
0.010 GeneticVariation BEFREE To evaluate the association between genetic variation in the ABO blood group and risk of breast cancer, rs505922 was genotyped in 629 Caucasian women with invasive breast cancer, representing a variety of clinical and pathological tumor types. 22642827

2012

dbSNP: rs505922
rs505922
ABO
CUI: C0240066
Disease: Iron deficiency
Iron deficiency
0.010 GeneticVariation BEFREE ABO (rs505922) and IL1B (rs1143627) may affect H pylori infection susceptibility, and IL1B (rs1143627) may also influence ID risk in infected children. 28727656

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: 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
C 0.720 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: C0024530
Disease: Malaria
Malaria
C 0.700 GeneticVariation GWASDB Imputation-based meta-analysis of severe malaria in three African populations. 23717212

2013

dbSNP: rs505922
rs505922
ABO
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Together, these data suggest that the minor allele of rs505922 and the resulting non-O blood types are not associated with increased risk or less favorable tumor characteristics or prognosis in breast cancer. 22642827

2012

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