rs2495477

This variant is located in the PCSK9 gene.

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GWAS Catalog Trait Associations (6)

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

PCSK9 protein measurement

Kheirkhah A et al. “Meta-GWAS on PCSK9 concentrations reveals associations of novel loci outside the PCSK9 locus in White populations.” Atherosclerosis 386:117384 (2023)
Allele A
OR 0.04
p 8.0e-38
N 20,579
Large GWAS
European

proprotein convertase subtilisin/kexin type 9 measurement

Pott J et al. “Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2.” Human Molecular Genetics 31(6):999-1011 (2022)
Allele G
OR 0.05
p 1.0e-23
N 12,721
Large GWAS
European

low density lipoprotein cholesterol measurement

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele A
OR —
β 0.057
p 2.0e-23
N 94,674
Large GWAS
multi-ancestry

total cholesterol measurement

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele A
OR —
β 0.052
p 3.0e-21
N 94,674
Large GWAS
multi-ancestry

Hypercholesterolemia

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.05
p 1.0e-12
N 394,626
Large GWAS
European
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ClinVar annotation

Benign★★★☆
17 submitters2 publications

not specified; Hypercholesterolemia, familial, 1; Hypobetalipoproteinemia; Hypercholesterolemia, autosomal dominant, 3; Familial hypercholesterolemia; Cardiovascular phenotype; not provided

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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