rs2769071

This is a intron variant variant in the ABO gene.

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GWAS Catalog Trait Associations (5)

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

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)

Allele G

OR 0.34

p 9.0e-61

N 5,365

Large GWAS

European

level of Na(+)/H(+) exchange regulatory cofactor NHE-RF2 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 G

OR 0.06

p 1.0e-21

N 47,745

Large GWAS

European

protein measurement

Hartley AE et al. “Deciphering tissue-specific protein regulation for insights into cardiometabolic disease.” Molecular Metabolism 104:102314 (2026)

Allele A

OR —

p 3.0e-19

N 241

Small GWAS

European

Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)

Allele A

OR 0.17

p 6.0e-15

N 3,506

Large GWAS

European

fibroblast growth factor 23 level

Robinson-Cohen C et al. “Genetic Variants Associated with Circulating Fibroblast Growth Factor 23.” Journal of the American Society of Nephrology : Jasn 29(10):2583-2592 (2018)

Allele A

OR 0.04

p 6.0e-17

N 16,624

Large GWAS

multi-ancestry

migraine disorder, blood insulin amount

Islam MR et al. “Cross-trait analyses identify shared genetics between migraine, headache, and glycemic traits, and a causal relationship with fasting proinsulin.” Human Genetics 142(8):1149-1172 (2023)

Allele G

OR 1.03

p 2.0e-8

N 884,042

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]

rs2769071

GWAS Catalog Trait Associations (5)

blood protein amount

level of Na(+)/H(+) exchange regulatory cofactor NHE-RF2 in blood

protein measurement

fibroblast growth factor 23 level

migraine disorder, blood insulin amount

About ABO

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