rs10896631

This variant is located in the SERPING1 gene.

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GWAS Catalog Trait Associations (4)

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

plasma protease C1 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 C
OR 0.77
p 1.0e-132
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

platelet volume

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.03
p 3.0e-15
N 476,837
Major Consortium StudyLarge GWAS
multi-ancestry

complement C1r subcomponent-like protein measurement

Suhre K et al. “A genome-wide association study of mass spectrometry proteomics using a nanoparticle enrichment platform.” Nature Genetics 57(12):2987-2996 (2025)
Allele C
OR 0.32
p 1.0e-14
N 1,257
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★☆☆☆
1 submitter2 publications

Hereditary angioedema type 1

View on ClinVar →

About SERPING1

This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It is synthesized in the liver, and its deficiency is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, May 2020]

View all SERPING1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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