rs4926

This is a variant in the SERPING1 gene that changes a valine to an methionine.

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GWAS Catalog Trait Associations (2)

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

blood protein amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.08

p 3.0e-40

N 47,745

Large GWAS

European

level of visinin-like protein 1 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 A

OR 0.05

p 1.0e-20

N 47,745

Large GWAS

European

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ClinVar annotation

Benign★★★☆

12 submitters3 publications

Hereditary angioedema type 1 (HAE1); Inborn genetic diseases; 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]