rs2442046

This variant is located in the MGAT5 gene.

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GWAS Catalog Trait Associations (5)

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

alkaline phosphatase measurement

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 0.03
p 2.0e-39
N 463,178
Large GWAS
multi-ancestry
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 0.03
p 5.0e-35
N 394,642
Large GWAS
European
Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)
Allele C
OR 12.90
p 2.0e-38
N 390,964
Large GWAS
multi-ancestry

transferrin glycosylation measurement

Landini A et al. “Genetic regulation of post-translational modification of two distinct proteins.” Nature Communications 13(1):1586 (2022)
Allele C
OR 0.44
p 1.0e-32
N 1,890
Large GWAS
European

N-glycan measurement

Sharapov S et al. “A genome-wide association study in 10,000 individuals links plasma N-glycome to liver disease and anti-inflammatory proteins.” Nature Communications 16(1):5525 (2025)
Allele C
OR 0.18
p 1.0e-25
N 10,172
Large GWAS
European

natural killer cell receptor 2B4 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 0.05
p 3.0e-14
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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