rs7964859

This variant is located in the GNPTAB gene.

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GWAS Catalog Trait Associations (8)

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

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.37
p 4.0e-142
N 10,708
Large GWAS
European

acid sphingomyelinase-like phosphodiesterase 3a measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR —
β 0.400
p 1.0e-51
N 3,301
Large GWAS
European

aspartate measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele C
OR 0.15
p 8.0e-40
N 14,296
Large GWAS
European
Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele C
OR 11.91
p 1.0e-32
N 30,775
Large GWAS
European

bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.17
p 6.0e-32
N 10,708
Large GWAS
European

lysosomal protective protein measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR —
β 0.260
p 2.0e-21
N 3,301
Large GWAS
European

alpha-L-iduronidase measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR —
β 0.240
p 7.0e-19
N 3,301
Large GWAS
European

gamma-glutamyl hydrolase measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR —
β 0.210
p 9.0e-15
N 3,301
Large GWAS
European

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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