rs117566084

This variant is located in the GNPTAB gene.

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GWAS Catalog Trait Associations (29)

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

lysosomal Pro-X carboxypeptidase measurement

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 0.62
p 4.0e-137
N 47,745
Large GWAS
European
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.89
p 4.0e-49
N 10,708
Large GWAS
European

level of sphingomyelin phosphodiesterase 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 0.46
p 2.0e-72
N 47,745
Large GWAS
European

cathepsin F measurement

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 0.47
p 7.0e-72
N 47,745
Large GWAS
European

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 0.37
p 2.0e-71
N 47,745
Large GWAS
European

protein CREG1 measurement

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 0.45
p 4.0e-62
N 47,745
Large GWAS
European

dipeptidyl peptidase 1 measurement

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 0.37
p 2.0e-59
N 47,745
Large GWAS
European

di-N-acetylchitobiase measurement

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 0.42
p 3.0e-58
N 47,745
Large GWAS
European

alpha-L-iduronidase measurement

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 0.38
p 5.0e-57
N 47,745
Large GWAS
European

cathepsin Z measurement

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 0.42
p 7.0e-55
N 47,745
Large GWAS
European

level of phospholipase A2 group XV 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 0.39
p 1.0e-54
N 47,745
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
10 submitters3 publications

not provided; Mucolipidosis type II;Pseudo-Hurler polydystrophy; Mucolipidosis type II; Pseudo-Hurler polydystrophy; not specified

View on ClinVar →

About GNPTAB

This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]

View all GNPTAB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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