rs1257169

This variant is located in the MGAT5 gene.

GWAS Catalog Trait Associations (15)

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

vascular cell adhesion protein 1 amount

Allele A
OR 0.09
p 1.0e-70
N 47,745
Large GWAS
European
Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.14
p 2.0e-25
N 10,708
Large GWAS
European

level of adhesion G protein-coupled receptor E1 in blood

Allele A
OR 0.09
p 2.0e-68
N 47,745
Large GWAS
European

scavenger receptor cysteine-rich type 1 protein m130 measurement

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.22
p 1.0e-59
N 10,708
Large GWAS
European

level of complement receptor type 1 in blood

Allele A
OR 0.08
p 6.0e-51
N 47,745
Large GWAS
European

protein measurement

Allele A
OR
β 0.090
p 2.0e-24
N 21,758
Large GWAS
European

level of tyrosine-protein kinase receptor UFO in blood

Allele A
OR 0.04
p 3.0e-16
N 47,745
Large GWAS
European

About MGAT5

The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011]

View all MGAT5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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