rs2479409

This is a upstream gene variant variant in the PCSK9 gene.

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GWAS Catalog Trait Associations (4)

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

low density lipoprotein cholesterol measurement

Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele G
OR —
β 0.064
p 3.0e-50
N 94,595
Large GWAS
European
Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele G
OR 0.06
p 3.0e-42
N 205,367
Large GWAS
multi-ancestry
Bentley AR et al. “Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.” Nature Genetics 51(4):636-648 (2019)
Allele G
OR 1.45
p 6.0e-16
N 125,692
Large GWAS
multi-ancestry
Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele G
OR 2.01
p 2.0e-28
N 95,454
Large GWAS
European
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR —
β 0.053
p 3.0e-20
N 94,674
Large GWAS
multi-ancestry

total cholesterol measurement

Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele G
OR —
β 0.054
p 2.0e-39
N 94,595
Large GWAS
European
Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele G
OR 0.05
p 1.0e-32
N 219,941
Large GWAS
multi-ancestry
Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele G
OR 1.96
p 4.0e-24
N 100,184
Large GWAS
European
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR —
β 0.050
p 9.0e-19
N 94,674
Large GWAS
multi-ancestry

PCSK9 protein measurement

Pott J et al. “Genetic Regulation of PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) Plasma Levels and Its Impact on Atherosclerotic Vascular Disease Phenotypes.” Circulation. Genomic and Precision Medicine 11(5):e001992 (2018)
Allele A
OR 0.05
p 7.0e-9
N 3,290
Large GWAS
European
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ClinVar annotation

Uncertain Significance★☆☆☆
3 submitters1 publication

Hypercholesterolemia, autosomal dominant, 3 (FHCL3); Hypercholesterolemia, familial, 1

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]

View all PCSK9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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