rs3118667

This is a synonymous variant in the ADAMTS13 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

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

ADAMTS13 activity measurement

de Vries PS et al. “Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity.” Blood 125(25):3949-55 (2015)

Allele C

OR 3.00

p 1.0e-20

N 3,423

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter1 publication

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]

View all ADAMTS13 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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