rs6070690

This is a downstream gene variant variant 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.

diastolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)

Allele C

OR 0.16

p 4.0e-16

N 1,028,980

Large GWAS

multi-ancestry

systolic blood pressure

Allele C

OR 0.21

p 8.0e-11

N 1,028,980

Large GWAS

multi-ancestry

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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