rs532436

This is a intron variant variant in the ABO gene.

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GWAS Catalog Trait Associations (48)

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

polypeptide N-acetylgalactosaminyltransferase 10 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 0.22
p 1.0e-246
N 47,745
Large GWAS
European

insulin receptor 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 0.48
p 1.0e-210
N 10,708
Large GWAS
European

level of alpha-amylase 2A 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 0.15
p 1.0e-123
N 47,745
Large GWAS
European

cholesterol to total lipids in small LDL percentage

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 0.06
p 2.0e-104
N 450,015
Large GWAS
multi-ancestry

interleukin-3 receptor subunit alpha measurement

Png G et al. “Mapping the serum proteome to neurological diseases using whole genome sequencing.” Nature Communications 12(1):7042 (2021)
Allele A
OR 0.58
p 1.0e-98
N 2,917
Large GWAS
European

total cholesterol measurement

Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)
Allele A
OR 0.07
p 2.0e-87
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry

intercellular adhesion molecule 5 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 0.28
p 7.0e-65
N 10,708
Large GWAS
European
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ClinVar annotation

Association
1 submitter

ABO blood group system

View on ClinVar →

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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