rs8176722

This is a upstream gene variant variant in the ABO gene.

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GWAS Catalog Trait Associations (26)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

cadherin-5 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele A
OR 1.01
p 3.0e-139
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
Suhre K et al. “A genome-wide association study of mass spectrometry proteomics using a nanoparticle enrichment platform.” Nature Genetics 57(12):2987-2996 (2025)
Allele A
OR 0.35
p 7.0e-11
N 1,253
Large GWAS
multi-ancestry
Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele A
OR 1.28
p 5.0e-68
N 466
Small GWAS
African American or Afro-Caribbean

level of roundabout homolog 4 in blood serum

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele A
OR 1.24
p 7.0e-63
N 466
Small GWAS
African American or Afro-Caribbean

tyrosine-protein kinase receptor Tie-1, soluble measurement

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele A
OR 1.13
p 4.0e-47
N 466
Small GWAS
African American or Afro-Caribbean

basal cell adhesion molecule amount

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele A
OR 0.57
p 6.0e-46
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele A
OR 0.71
p 9.0e-16
N 466
Small GWAS
African American or Afro-Caribbean

Thromboembolism

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.31
p 9.0e-42
N 118,315
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

deep vein thrombosis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.36
p 9.0e-36
N 119,901
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

angiopoietin-1 receptor, soluble measurement

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele A
OR 0.92
p 7.0e-28
N 466
Small GWAS
African American or Afro-Caribbean

interleukin-3 receptor subunit alpha measurement

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele A
OR 0.81
p 5.0e-21
N 466
Small GWAS
African American or Afro-Caribbean

erythrocyte volume

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.07
p 1.0e-20
N 114,848
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

encounter with health service

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.21
p 4.0e-19
N 119,585
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
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Research that mentions this SNP (1)

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Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B
AssociationN=6,033Jiang DK et al.(2015)· Hepatology

A genome-wide association study of 83 plasma proteins relevant to cardiovascular disease in 3,394 European subjects identified 79 genome-wide significant loci (p<5e-8), with 55 replicating in independent cohorts (n=2,639). Using eQTL analysis and network methods, the authors proposed plausible causal mechanisms for 25 trans-acting loci including post-translational regulation of KITLG by MMP9 and several receptor-ligand pairs. Multiple loci showed evidence of causal association with coronary artery disease risk.

Traits studied:AtherosclerosisCoronary artery diseasePlaque rupturePlasma protein levels (83 cardiovascular disease-related proteins)Thrombosis
PubMedDOIMetascience Observatory

About ABO

This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022]

View all ABO variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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