rs36221911

This variant is located in the ADAMTS13 gene.

GWAS Catalog Trait Associations (7)

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

level of mucin-2 in blood

Allele C
OR 0.32
p 2.0e-55
N 47,745
Large GWAS
European

CD109 antigen measurement

Allele C
OR 0.15
p 4.0e-38
N 47,745
Large GWAS
European

tyrosine-protein kinase receptor TYRO3 measurement

Allele C
OR 0.10
p 6.0e-16
N 47,745
Large GWAS
European

vascular endothelial growth factor receptor 3 level

Allele C
OR 0.17
p 8.0e-15
N 47,745
Large GWAS
European

enteropeptidase measurement

Allele C
OR 0.22
p 2.0e-12
N 47,745
Large GWAS
European

C-type lectin domain family 14 member A measurement

Allele C
OR 0.20
p 1.0e-11
N 47,745
Large GWAS
European

ClinVar annotation

Benign☆☆☆
1 submitter
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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