rs151193009

This variant is located in the PCSK9 gene.

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GWAS Catalog Trait Associations (9)

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

low density lipoprotein cholesterol measurement

Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele T
OR 0.54
p 5.0e-233
N 288,127
Large GWAS
East Asian
Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele T
OR 0.49
p 2.0e-44
N 146,492
Large GWAS
East Asian
Lee SB et al. “Dyslipidaemia-Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease.” Biomedicines 10(7) (2022)
Allele T
OR 14.49
p 2.0e-81
N 58,701
Large GWAS
East Asian
Cheng S et al. “The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.” Cell Discovery 9(1):75 (2023)
Allele T
OR 0.55
p 9.0e-18
N 10,241
Large GWAS
East Asian
Moon S et al. “The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.” Scientific Reports 9(1):1382 (2019)
Allele T
OR 0.18
p 6.0e-17
N 6,949
Large GWAS
East Asian

total cholesterol measurement

Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele T
OR 0.47
p 7.0e-182
N 288,127
Large GWAS
East Asian
Flanagan J et al. “Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population.” Communications Biology 7(1):1665 (2024)
Allele T
OR 0.37
p 1.0e-73
N 181,927
Large GWAS
East Asian
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.37
p 8.0e-90
N 135,808
Large GWAS
East Asian
Lee SB et al. “Dyslipidaemia-Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease.” Biomedicines 10(7) (2022)
Allele T
OR 14.50
p 2.0e-67
N 58,701
Large GWAS
East Asian
Tang CS et al. “Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.” Nature Communications 6:10206 (2015)
Allele T
OR 0.56
p 5.0e-25
N 12,685
Large GWAS
East Asian
Cheng S et al. “The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.” Cell Discovery 9(1):75 (2023)
Allele T
OR 0.50
p 5.0e-15
N 10,241
Large GWAS
East Asian
Moon S et al. “The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.” Scientific Reports 9(1):1382 (2019)
Allele T
OR 19.40
p 8.0e-14
N 6,949
Large GWAS
East Asian

non-high density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele T
OR 0.46
p 7.0e-39
N 146,492
Large GWAS
East Asian

LDL cholesterol change measurement

Tang CS et al. “Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.” Nature Communications 6:10206 (2015)
Allele T
OR 0.64
p 8.0e-32
N 12,685
Large GWAS
East Asian

Hypercholesterolemia

Kim YS et al. “Lifestage Sex-Specific Genetic Effects on Metabolic Disorders in an Adult Population in Korea: The Korean Genome and Epidemiology Study.” International Journal of Molecular Sciences 23(19) (2022)
Allele C
OR 0.40
p 1.0e-16
N 50,808
Large GWAS
East Asian

aspirin 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 T
OR 0.28
p 7.0e-11
N 178,726
Large GWAS
East Asian

myocardial infarction

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.43
p 9.0e-10
N 161,206
Large GWAS
East Asian

Vasodilators used in cardiac diseases 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 T
OR 0.37
p 4.0e-9
N 178,726
Large GWAS
East Asian

Antithrombotic agent 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 T
OR 0.23
p 2.0e-8
N 178,726
Large GWAS
East Asian
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ClinVar annotation

Conflicting Classifications
8 submitters8 publications

Hypercholesterolemia, autosomal dominant, 3; Hypercholesterolemia, familial, 1; not specified; 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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