rs687289

This variant is located in the ABO gene.

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GWAS Catalog Trait Associations (18)

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

venous thromboembolism

Thibord F et al. “Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors.” Circulation 146(16):1225-1242 (2022)
Allele A
OR 0.29
p —
N 1,066,917
Large GWAS
European
Lindström S et al. “Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.” Blood 134(19):1645-1657 (2019)
Allele A
OR 1.34
p 1.0e-174
N 202,356
Large GWAS
multi-ancestry
Herrera-Rivero M et al. “Single- and Multimarker Genome-Wide Scans Evidence Novel Genetic Risk Modifiers for Venous Thromboembolism.” Thrombosis and Haemostasis 121(9):1169-1180 (2021)
Allele A
OR 1.82
p 9.0e-16
N 1,863
Large GWAS
European

ectonucleoside triphosphate diphosphohydrolase 6 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 0.12
p 8.0e-133
N 47,745
Large GWAS
European

blood coagulation trait

Desch KC et al. “Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.” Proceedings of the National Academy of Sciences of the United States of America 110(2):588-93 (2013)
Allele T
OR 0.33
p 1.0e-128
N 3,462
Large GWAS
European

monocyte count

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 0.04
p 2.0e-86
N 394,642
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 8.0e-23
N 408,112
Large GWAS
European
Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele A
OR —
p 5.0e-37
N 234,690
Large GWAS
European
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele A
OR 0.04
p 8.0e-26
N 170,721
Large GWAS
European

deep vein thrombosis

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 0.30
p 4.0e-80
N 394,626
Large GWAS
European

fibroblast growth factor 23 level

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 0.07
p 2.0e-34
N 47,745
Large GWAS
European
Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele A
OR —
β 0.067
p 1.0e-12
N 21,758
Large GWAS
European

promotilin 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 0.06
p 2.0e-33
N 47,745
Large GWAS
European

level of T-cell-specific surface glycoprotein CD28 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 0.07
p 3.0e-30
N 47,745
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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