rs142068333

This variant is located in the CTSE gene.

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GWAS Catalog Trait Associations (1)

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

cathepsin E 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 0.59

p 1.0e-20

N 47,745

Large GWAS

European

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

not specified

View on ClinVar →

About CTSE

This gene encodes a member of the A1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme, an aspartic endopeptidase, may be involved in antigen processing and the maturation of secretory proteins. Elevated expression of this gene has been observed in neurodegeneration. [provided by RefSeq, Nov 2015]

View all CTSE variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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