rs77200626

This is a stop gained variant in the TMPRSS15 gene.

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GWAS Catalog Trait Associations (1)

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

enteropeptidase measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.67

p 3.0e-32

N 47,745

Large GWAS

European

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ClinVar annotation

Pathogenic★★★☆

9 submitters4 publications

Enterokinase deficiency

View on ClinVar →

About TMPRSS15

This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. This protein is a member of the trypsin family of peptidases. Mutations in this gene cause enterokinase deficiency, a malabsorption disorder characterized by diarrhea and failure to thrive. [provided by RefSeq, Jul 2008]

View all TMPRSS15 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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