rs2232698

This variant is located in the SERPINA10 gene.

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GWAS Catalog Trait Associations (2)

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

protein Z-dependent protease inhibitor 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 A

OR 1.45

p 3.0e-217

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

dual specificity mitogen-activated protein kinase kinase 2 measurement

Allele A

OR 1.30

p 1.0e-172

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

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ClinVar annotation

Likely Benign★★★☆

2 submitters5 publications

LAMB2-related infantile-onset nephrotic syndrome; not provided

View on ClinVar →

About SERPINA10

The protein encoded by this gene belongs to the serpin family. It is predominantly expressed in the liver and secreted in plasma. It inhibits the activity of coagulation factors Xa and XIa in the presence of protein Z, calcium and phospholipid. Mutations in this gene are associated with venous thrombosis. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2010]