{{Rsnum
|rsid=562556
|Gene=PCSK9
|Chromosome=1
|position=55058564
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.1474
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PCSK9
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 68.3 | 27.0 | 4.8
| HCB | 100.0 | 0.0 | 0.0
| JPT | 88.6 | 11.4 | 0.0
| YRI | 50.0 | 41.9 | 8.1
| ASW | 0.0 | 0.0 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{PMID|18300938|OA=1
}} [[rs505151]] [[rs562556]] show evidence of 'gain-of-function' mutations that are associated with higher LDL cholesterol levels.

{{Venter SNP
|rsid=562556
|allele=A
|frequency=
|uid=1103675097450
|type=homozygous_SNP
|hugo=PCSK9
|ensembl gene=ENSG00000169174
|ensembl transcript=ENST00000302118
|sift=AFFECT FUNCTION
|disease=Defects in PCSK9 are the cause of familial hypercholesterolemia 3 (FH3) (MIM:603776). FH3 inheritance is autosomal dominant.
}}

{{PMID Auto
|PMID=18704161
|Title=Genetic variation in an individual human exome.
|OA=1
}}

{{GET Evidence
|gene=PCSK9
|aa_change=Val474Ile
|aa_change_short=V474I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs562556
|overall_frequency_n=8793
|overall_frequency_d=10758
|overall_frequency=0.817345
|n_genomes=47
|n_genomes_annotated=0
|n_haplomes=81
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-4
|autoscore=2
|n_web_uneval=3
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}