rs199825459

This variant is located in the CTSZ gene.

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GWAS Catalog Trait Associations (2)

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

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)

Allele G

OR 1.92

p 7.0e-146

N 5,363

Large GWAS

European

cathepsin Z measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)

Allele G

OR —

β 2.200

p 3.0e-76

N 3,301

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

3 submitters2 publications

View on ClinVar →

About CTSZ

The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known as cathepsin X and cathepsin P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and, like other members of this family, may be involved in tumorigenesis. [provided by RefSeq, Oct 2008]

View all CTSZ variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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