rs121434529

This is a variant in the NAGA gene that changes a glutamate to an lysine.

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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 alpha-N-acetylgalactosaminidase 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 T

OR 1.12

p 3.0e-158

N 47,745

Large GWAS

European

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ClinVar annotation

Pathogenic★★★☆

27 submitters23 publications

Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 1; Alpha-N-acetylgalactosaminidase deficiency type 2; Inborn genetic diseases; NAGA-related disorder; See cases; not specified

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About NAGA

NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]

View all NAGA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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