rs679574

This is a intron variant variant in the FUT2 gene.

GWAS Catalog Trait Associations (19)

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

milk amount

Allele C
OR 28.72
p 2.0e-181
N 980
Small GWAS
multi-ancestry

HEPACAM family member 2 measurement

Allele G
OR 0.09
p 1.0e-86
N 47,745
Large GWAS
European

vitamin B deficiency

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.19
p 2.0e-84
N 437,580
Major Consortium StudyLarge GWAS
European

total blood protein measurement

Allele G
OR 0.03
p 1.0e-56
N 394,642
Large GWAS
European

total cholesterol measurement

Allele G
OR 0.03
p 9.0e-53
N 394,642
Large GWAS
European
Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.02
p 1.0e-18
N 570,819
Major Consortium StudyLarge GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Allele G
OR 0.03
p 1.0e-47
N 394,642
Large GWAS
European
Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.02
p 8.0e-13
N 404,745
Major Consortium StudyLarge GWAS
European
Allele G
OR 0.02
p 2.0e-21
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry

vitamin B12 deficiency

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.17
p 6.0e-45
N 620,960
Major Consortium StudyLarge GWAS
multi-ancestry

secretagogin 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 0.13
p 1.0e-20
N 10,708
Large GWAS
European

ephrin type-A receptor 2 amount

Allele G
OR 0.05
p 3.0e-20
N 47,745
Large GWAS
European

Research that mentions this SNP (1)

Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population
AssociationN=7,457Maarit Lappalainen et al.(2008)· Inflammatory Bowel Diseases

PhD thesis describing comprehensive genome-wide association studies of acute anterior uveitis (AAU) in European (2,752 cases, 3,836 controls) and East Asian (821 cases, 4,898 controls) populations. European descent GWAS identified HLA-B at genome-wide significance plus 11 suggestive loci (ERAP1, NOS2, MERTK). East Asian GWAS identified HLA-B and ERAP1 at genome-wide significance plus 12 suggestive loci (GPR68, RHBDD2). Mendelian randomization confirmed ERAP1 as functionally relevant and showed genetically predicted CRP levels positively associated with AAU risk.

Traits studied:Acute anterior uveitis (AAU)Ankylosing spondylitis (AS)Spondyloarthropathies

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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