rs142572218

This is a variant in the ADAMTS13 gene that changes a arginine to an tryptophan.

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GWAS Catalog Trait Associations (2)

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

a disintegrin and metalloproteinase with thrombospondin motifs 13 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 2.02

p 2.0e-97

N 47,745

Large GWAS

European

glioma pathogenesis-related protein 1 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 1.26

p 2.0e-29

N 47,745

Large GWAS

European

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ClinVar annotation

Pathogenic★★★☆

23 submitters24 publications

ADAMTS13-related disorder; Thrombotic thrombocytopenic purpura; Upshaw-Schulman syndrome (TTP)

View on ClinVar →

About ADAMTS13

This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]