rs138733377

This variant is located in the CTSD 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 D 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 0.15
p 9.0e-13
N 47,745
Large GWAS
European
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ClinVar annotation

Benign★★★☆
11 submitters4 publications

not specified; Neuronal ceroid lipofuscinosis; not provided; Neuronal ceroid lipofuscinosis 10; Inborn genetic diseases

View on ClinVar →

About CTSD

This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]

View all CTSD variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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