rs7503034

This is a variant in the SGSH gene that changes a arginine to an histidine.

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GWAS Catalog Trait Associations (1)

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

protein measurement

Hartley AE et al. “Deciphering tissue-specific protein regulation for insights into cardiometabolic disease.” Molecular Metabolism 104:102314 (2026)

Allele T

OR —

p 1.0e-11

N 272

Small GWAS

European

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ClinVar annotation

Benign★★★☆

13 submitters2 publications

Mucopolysaccharidosis, MPS-III-A (MPS3A); not specified

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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