rs9411377

This variant is located in the ABO gene.

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GWAS Catalog Trait Associations (31)

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

protein 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 0.63
p —
N 10,708
Large GWAS
European

odorant-binding protein 2b measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.17
p 1.0e-265
N 47,745
Large GWAS
European

venous thromboembolism

Klarin D et al. “Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease.” Nature Genetics 51(11):1574-1579 (2019)
Allele A
OR 1.36
p 1.0e-224
N 650,119
Large GWAS
multi-ancestry

level of UL16-binding protein 2 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 A
OR 0.12
p 2.0e-107
N 47,745
Large GWAS
European

factor VIII measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR 0.51
p 3.0e-80
N 3,301
Large GWAS
European

scavenger receptor class A member 5 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.10
p 1.0e-76
N 47,745
Large GWAS
European

level of bone marrow stromal antigen 2 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 A
OR 0.10
p 3.0e-72
N 47,745
Large GWAS
European

von Willebrand factor quality

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.24
p 5.0e-58
N 10,708
Large GWAS
European

pulmonary embolism

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.35
p 1.0e-43
N 394,626
Large GWAS
European

glycine measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 8.0e-30
N 450,015
Large GWAS
multi-ancestry

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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