rs564427867

This is a variant in the PCSK9 gene that changes a glutamate to an lysine.

▶

GWAS Catalog Trait Associations (2)

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

low density lipoprotein cholesterol measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele A

OR 0.43

p 4.0e-70

N 72,866

Large GWAS

East Asian

HMG CoA reductase inhibitor use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele A

OR 0.77

p 3.0e-51

N 178,726

Large GWAS

East Asian

▶

ClinVar annotation

Pathogenic★★★☆

16 submitters20 publications

Cardiovascular phenotype; Familial hypercholesterolemia; Homozygous familial hypercholesterolemia; Hypercholesterolemia, autosomal dominant, 3 (FHCL3); Hypercholesterolemia, familial, 1; PCSK9-related disorder

View on ClinVar →

About PCSK9

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]