rs28647808

This is a variant in the ADAMTS13 gene that changes a proline to an alanine.

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GWAS Catalog Trait Associations (1)

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

a disintegrin and metalloproteinase with thrombospondin motifs 13 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele G
OR 1.04
p 7.0e-104
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
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ClinVar annotation

Likely Benign★★★☆
5 submitters2 publications

Upshaw-Schulman syndrome (TTP); not specified

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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]

View all ADAMTS13 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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