rs4962153

This is a upstream gene variant variant in the ADAMTS13 gene.

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GWAS Catalog Trait Associations (3)

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

alkaline phosphatase measurement, enzyme/coenzyme activity trait

Yuan X et al. “Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.” American Journal of Human Genetics 83(4):520-8 (2008)
Allele A
OR 0.06
p 8.0e-21
N 7,751
Large GWAS
multi-ancestry

health trait

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele A
OR 0.01
p 1.0e-18
N 405,979
Large GWAS
European
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ClinVar annotation

Benign
1 submitter

Three Vessel Coronary Disease

View on ClinVar →
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Research that mentions this SNP (1)

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Association of IRF5 polymorphisms with systemic lupus erythematosus in a Japanese population: Support for a crucial role of intron 1 polymorphisms
AssociationN=362Aya Kawasaki et al.(2008)· Arthritis &amp; Rheumatism

This study examined the association between the ADAMTS13 SNP rs4962153 and reduced ADAMTS13 activity in 362 healthy Thai participants. The AA genotype was associated with significantly reduced ADAMTS13 antigen (p=0.014 vs AG; p<0.001 vs GG) and activity (p=0.036 vs AG; p=0.002 vs GG). In vitro experiments showed microparticles and febrile temperatures (38-39°C) both inhibited ADAMTS13 activity in a time and temperature-dependent manner.

Traits studied:Cerebral malariaSevere falciparum malariaThrombotic thrombocytopenic purpura
PubMedDOIMetascience Observatory

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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