rs17825668

This variant is located in the ALG8 gene.

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GWAS Catalog Trait Associations (1)

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

level of Mth938 domain-containing 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 G

OR 0.10

p 7.0e-15

N 47,745

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

8 submitters2 publications

not specified; ALG8 congenital disorder of glycosylation; not provided

View on ClinVar →

About ALG8

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

View all ALG8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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