Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

PCSK9

proprotein convertase subtilisin/kexin type 9

Chromosome
1
Cytoband
1p32.3
Variants (rsID)
45

PCSK9 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p32.3). Its official name is “proprotein convertase subtilisin/kexin type 9”. The reference table lists 45 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

29 reference-table entries with clinical significance.

  • rs2479409Benignsingle nucleotide variantHypercholesterolemia, familial, 1
  • rs540796Benignsingle nucleotide variantHypercholesterolemia, familial, 1|Hypobetalipoproteinemia|Hypercholesterolemia, autosomal dominant, 3
  • rs562556Benignmissense_variantLipoprotein Quantitative Trait Locus|Arteries, Anomalies of|Coronary Stenosis|Malaria|Coronary Heart Disease 1|Polycystic Ovary Syndrome|Lipid Metabolism Disorder|Hypercholesterolemia, Familial, 1|Thrombosis|Familial Hypercholesterolemia|Myocardial Infarction|Hypercholesterolemia, Familial, 3|Toxic Shock Syndrome
  • rs72646508Benignsingle nucleotide variantFamilial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, 3
  • rs1057519691Conflicting interpretationssingle nucleotide variantHypercholesterolemia, autosomal dominant, 3|Familial hypercholesterolemia
  • rs11800243Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Hypobetalipoproteinemia|Hypercholesterolemia, autosomal dominant, 3
  • rs139669564Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Hypercholesterolemia, autosomal dominant, 3|Familial hypercholesterolemia
  • rs143275858Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Hypercholesterolemia, autosomal dominant, 3|Familial hypercholesterolemia
  • rs28362201Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Hypobetalipoproteinemia|Hypercholesterolemia, autosomal dominant, 3
  • rs28362287Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Hypobetalipoproteinemia|Hypercholesterolemia, autosomal dominant, 3
  • rs28385701Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Hypobetalipoproteinemia|Hypercholesterolemia, autosomal dominant, 3
  • rs28385710Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Hypobetalipoproteinemia|Hypercholesterolemia, autosomal dominant, 3
  • rs374603772Conflicting interpretationssingle nucleotide variantHypercholesterolemia, autosomal dominant, 3|Hypercholesterolemia, familial, 1|Hypobetalipoproteinemia|Familial hypercholesterolemia|Hypercholesterolemia
  • rs41297883Conflicting interpretationssingle nucleotide variantHypercholesterolemia, autosomal dominant, 3|Hypercholesterolemia, familial, 1|Hypobetalipoproteinemia|Familial hypercholesterolemia
  • rs509504Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Hypobetalipoproteinemia|Hypercholesterolemia, autosomal dominant, 3
  • rs67608943Conflicting interpretationssingle nucleotide variantLow density lipoprotein cholesterol level quantitative trait locus 1|Hypercholesterolemia, autosomal dominant, 3|Familial hypercholesterolemia
  • rs7552471Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Hypobetalipoproteinemia|Hypercholesterolemia, autosomal dominant, 3
  • rs764603059Conflicting interpretationssingle nucleotide variantHypercholesterolemia, autosomal dominant, 3|Familial hypercholesterolemia
  • rs772677312Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Hypercholesterolemia, autosomal dominant, 3|Hypobetalipoproteinemia|Familial hypercholesterolemia
  • rs778849441Conflicting interpretationssingle nucleotide variantHypercholesterolemia, autosomal dominant, 3|Hypercholesterolemia, familial, 1|Familial hypercholesterolemia
  • rs793888521Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Hypercholesterolemia, autosomal dominant, 3|Familial hypercholesterolemia
  • rs886039839Likely pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
  • rs1254346075Pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
  • rs1272703401Pathogenicsingle nucleotide variantHypocholesterolemia
  • rs1372204035Pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
  • rs137852912Pathogenicsingle nucleotide variantHypercholesterolemia, autosomal dominant, 3|Hypercholesterolemia, familial, 1
  • rs28942112Pathogenicsingle nucleotide variantHypercholesterolemia, autosomal dominant, 3
  • rs1057516136Uncertain significancesingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
  • rs1278890129Uncertain significancesingle nucleotide variantHypercholesterolemia, familial, 1|Hypercholesterolemia, autosomal dominant, 3|Familial hypercholesterolemia

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.