rs10793962

This is a coding sequence variant variant in the ABO gene.

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GWAS Catalog Trait Associations (15)

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

adhesion G protein-coupled receptor F5 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.82
p 7.0e-216
N 10,708
Large GWAS
European

level of meprin A subunit alpha in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.32
p 3.0e-193
N 47,745
Large GWAS
European

Red cell distribution width

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR 0.09
p 1.0e-109
N 531,774
Large GWAS
European

erythrocyte volume

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.07
p 3.0e-104
N 480,305
Large GWAS
multi-ancestry

angiopoietin-1 receptor, soluble 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 T
OR 0.79
p 2.0e-85
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

interleukin-1 receptor type 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.18
p 3.0e-61
N 47,745
Large GWAS
European

platelet endothelial aggregation receptor 1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.43
p 1.0e-60
N 10,708
Large GWAS
European

mean corpuscular hemoglobin concentration

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.05
p 8.0e-46
N 485,950
Large GWAS
multi-ancestry

level of cadherin-17 in blood serum

Png G et al. “Mapping the serum proteome to neurological diseases using whole genome sequencing.” Nature Communications 12(1):7042 (2021)
Allele A
OR 0.65
p 2.0e-45
N 2,917
Large GWAS
European

immunoglobulin superfamily containing leucine-rich repeat protein 2 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.65
p 9.0e-41
N 3,301
Large GWAS
European

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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