rs28362944

This is a splice region variant variant in the SERPING1 gene.

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GWAS Catalog Trait Associations (3)

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

plasma protease C1 inhibitor measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.35
p 7.0e-182
N 47,745
Large GWAS
European

complement C1r subcomponent-like protein measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.11
p 2.0e-18
N 47,745
Large GWAS
European

level of Ras-related protein Rab-6A in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.11
p 8.0e-18
N 47,745
Large GWAS
European
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ClinVar annotation

Benign★★★☆
5 submitters1 publication

Hereditary angioedema type 1 (HAE1); not specified

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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