rs316341

This variant is located in the SERPINB1 gene.

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GWAS Catalog Trait Associations (1)

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

beta-amyloid 1-42 measurement

Deming Y et al. “Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers.” Acta Neuropathologica 133(5):839-856 (2017)

Allele G

OR 0.03

p 2.0e-8

N 3,146

Large GWAS

About SERPINB1

The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

View all SERPINB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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