rs600038

This is a upstream gene 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.

heart failure

Levin MG et al. “Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.” Nature Communications 13(1):6914 (2022)

Allele T

OR 0.05

p 1.0e-21

N 1,665,481

Large GWAS

multi-ancestry

Lee DSM et al. “Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum.” Nature Genetics 57(4):829-838 (2025)

Allele T

OR 0.05

p 8.0e-18

N 2,358,556

Large GWAS

multi-ancestry

Enzan N et al. “Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population.” Nature Communications 16(1):9680 (2025)

Allele T

OR 0.01

p 2.0e-13

N 1,366,492

Large GWAS

European

Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)

Allele T

OR 0.05

p 2.0e-12

N 1,354,739

Meta-analysisLarge GWAS

multi-ancestry

Rasooly D et al. “Genome-wide association analysis and Mendelian randomization proteomics identify drug targets for heart failure.” Nature Communications 14(1):3826 (2023)

Allele T

OR 0.05

p 9.0e-14

N 1,279,610

Large GWAS

European

Shah S et al. “Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure.” Nature Communications 11(1):163 (2020)

Allele T

OR 1.06

p 4.0e-9

N 977,323

Large GWAS

European

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 0.06

p 1.0e-8

N 664,886

Large GWAS

multi-ancestry

OX-2 membrane glycoprotein amount

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 C

OR 0.39

p 9.0e-21

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

level of membrane cofactor protein 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 C

OR 0.05

p 3.0e-15

N 47,745

Large GWAS

European

cholelithiasis

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele C

OR 0.06

p 2.0e-10

N 665,111

Large GWAS

multi-ancestry

clinical and behavioural ideal cardiovascular health

Huang RDL et al. “Genome-wide and phenome-wide analysis of ideal cardiovascular health in the VA Million Veteran Program.” Plos One 17(5):e0267900 (2022)

Allele T

OR —

β 0.050

p 3.0e-9

N 142,404

Major Consortium StudyLarge GWAS

multi-ancestry

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Research that mentions this SNP (1)

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A Genome‐Wide Association Study for Serum Bilirubin Levels and Gene‐Environment Interaction in a Chinese Population

AssociationN=3,294Xiayun Dai et al.(2013)· Genetic Epidemiology

GWAS study of 3,294 European ancestry individuals from the eMERGE Network examining serum bilirubin and other liver function tests. Strong association signal at UGT1A1 locus (rs887829, beta=0.15, p=1.30×10^-118) confirmed in both adult and pediatric populations. Additional associations identified in SLCO1B1, SLCO1B3, TDRP, ZMYND8, and ABO locus. Phenome-wide analysis revealed protective effect of TA7 repeat against cerebrovascular disease (OR=0.75, p=0.0008).

Traits studied:ALTASTAlkaline phosphataseCerebrovascular diseaseGGTLiver function testsSerum bilirubin levels

PubMed DOI Metascience Observatory

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]

rs600038

GWAS Catalog Trait Associations (5)

heart failure

OX-2 membrane glycoprotein amount

level of membrane cofactor protein in blood

cholelithiasis

clinical and behavioural ideal cardiovascular health

Research that mentions this SNP (1)

About ABO

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