rs516316
This is a intron variant variant in the FUT2 gene.
▶GWAS Catalog Trait Associations (30)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (30)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
kallikrein-15 measurement
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 0.19
p 2.0e-252
N 47,745
Large GWAS
European
polypeptide N-acetylgalactosaminyltransferase 3 measurement
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 0.14
p 6.0e-205
N 47,745
Large GWAS
European
level of alkaline phosphatase, placental type 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 0.10
p 1.0e-122
N 47,745
Large GWAS
European
susceptibility to mumps measurement
Tian C et al. “Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections.” Nature Communications 8(1):599 (2017)
Allele C
OR 1.25
p 1.0e-71
N 85,380
Large GWAS
European
secreted and transmembrane protein 1 measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.23
p 6.0e-67
N 10,708
Large GWAS
European
Allele C
OR —
β 0.220
p 6.0e-20
N 3,301
Large GWAS
European
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 0.28
p 2.0e-25
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
apolipoprotein B measurement
Richardson TG et al. “Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis.” Plos Medicine 17(3):e1003062 (2020)
Allele G
OR 0.03
p 4.0e-49
N 439,214
Large GWAS
European
low density lipoprotein cholesterol measurement
Richardson TG et al. “Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis.” Plos Medicine 17(3):e1003062 (2020)
Allele G
OR 0.03
p 1.0e-46
N 440,546
Large GWAS
European
protein FAM177A1 measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.18
p 4.0e-44
N 10,708
Large GWAS
European
level of 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT3 in blood, level of 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT5 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 0.07
p 2.0e-42
N 47,745
Large GWAS
European
level of V-set domain-containing T-cell activation inhibitor 1 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 0.08
p 2.0e-36
N 47,745
Large GWAS
European
About FUT2
This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. The encoded protein is important for the final step in the soluble ABO blood group antigen synthesis pathway. It is also involved in cell-cell interaction, cell surface expression, and cell proliferation. Mutations in this gene are a cause of the H-Bombay blood group where red blood cells lack the H antigen. [provided by RefSeq, May 2022]
View all FUT2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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