rs142557761

This variant is located in the SGSH 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 N-sulphoglucosamine sulphohydrolase 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 0.77

p 1.0e-56

N 47,745

Large GWAS

European

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ClinVar annotation

Conflicting Classifications

8 submitters2 publications

Mucopolysaccharidosis, MPS-III-A; SGSH-related disorder; not specified; not provided

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About SGSH

This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]

View all SGSH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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