rs11557488

This is a variant in the PRKCSH gene that changes a alanine to an threonine.

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GWAS Catalog Trait Associations (1)

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

glucosidase 2 subunit beta measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele A

OR 0.12

p 6.0e-13

N 10,708

Large GWAS

European

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ClinVar annotation

Benign★★★☆

7 submitters2 publications

Polycystic liver disease 1 (PCLD1); not specified

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About PRKCSH

This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

View all PRKCSH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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