rs138976576

This variant is located in the TPP1 gene.

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GWAS Catalog Trait Associations (1)

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

level of tripeptidyl-peptidase 1 in blood

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 0.99
p 3.0e-39
N 47,745
Large GWAS
European
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ClinVar annotation

Conflicting Classifications
14 submitters4 publications

not specified; Neuronal ceroid lipofuscinosis 2; not provided; Neuronal ceroid lipofuscinosis 2;Autosomal recessive spinocerebellar ataxia 7; Inborn genetic diseases

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About TPP1

This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008]

View all TPP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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