{{Rsnum
|rsid=505151
|Gene=PCSK9
|Chromosome=1
|position=55063514
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.09826
|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 | 93.8 | 6.2 | 0.0
| HCB | 83.9 | 16.1 | 0.0
| JPT | 94.7 | 5.3 | 0.0
| YRI | 43.5 | 46.9 | 9.5
| ASW | 56.1 | 36.8 | 7.0
| CHB | 83.9 | 16.1 | 0.0
| CHD | 87.2 | 12.8 | 0.0
| GIH | 94.1 | 5.9 | 0.0
| LWK | 47.3 | 42.7 | 10.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 55.1 | 35.9 | 9.0
| TSI | 94.1 | 5.9 | 0.0
| HapMapRevision=28
}}[[rs505151]] is a SNP, also known as E670G or 23968A>G, in the proprotein convertase subtilisin/kexin type 9 [[PCSK9]] gene. [[rs505151]](G) encodes the Gly (G), and [[rs505151]](A) encodes the Glutamic acid (E).

In a study of 506 European polygenic [[hypercholesterolemia]] patients, the [[rs505151]](G) allele was found with increased frequency in men but not in women.{{PMID|16875509|OA=1
}}

{{PMID|18300938|OA=1
}} [[rs505151]] [[rs562556]] show evidence of 'gain-of-function' mutations that are associated with higher LDL cholesterol levels.

{{ neighbor
| rsid = 28362286
| distance = 28
}}

{{Venter SNP
|rsid=505151
|allele=A
|frequency=0.958
|uid=1103675097464
|type=homozygous_SNP
|hugo=PCSK9
|ensembl gene=ENSG00000169174
|ensembl transcript=ENST00000302118
|sift=TOLERATED
|disease=Defects in PCSK9 are the cause of familial hypercholesterolemia 3 (FH3) (MIM:603776). FH3 inheritance is autosomal dominant.
}}

{{ClinVar
|rsid=505151
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=55063514
|CHROM=1
|GMAF=0.098
|dbSNPBuildID=83
|SSR=0
|SAO=1
|VP=0x050368000a05150517100101
|GENEINFO=PCSK9:255738
|GENE_NAME=PCSK9
|GENE_ID=255738
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.55063514G>A
|CLNSRC=ClinVar; LabCorp
|CLNORIGIN=1
|CLNSIG=2
|CLNDBN=Familial hypercholesterolemia
|Disease=Familial hypercholesterolemia
|Tags=PM;PMC;S3D;SLO;NSM;REF;ASP;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD
|CAF=0.09826; 0.9017
|CLNACC=RCV000030349.1
|CLNDSDB=MedGen:OMIM:OMIM:SNOMED_CT:SNOMED_CT
|CLNDSDBID=C0020445:143890:144400:397915002:398036000
|COMMON=1
|CLNSRCID=NM_174936.3:c.2009G>A; NR_110451.1:n.1616G>A
}}

{{PMID|20031607|OA=1
}} Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study.

{{PMID|21232153|OA=1
}} The proprotein convertase subtilisin/kexin type 9 gene E670G polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations.

{{PMID|21741043|OA=1
}} Genetic variability within the cholesterol lowering pathway and the effectiveness of statins in reducing the risk of MI.

{{PMID|19191301}} Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.

{{GET Evidence
|gene=PCSK9
|aa_change=Gly670Glu
|aa_change_short=G670E
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs505151
|overall_frequency_n=9556
|overall_frequency_d=10758
|overall_frequency=0.888269
|n_genomes=36
|n_genomes_annotated=0
|n_haplomes=69
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=3
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=6
|autoscore=2
|n_web_uneval=1
|variant_evidence=0
|clinical_importance=0
|summary_short=This variant is likely benign. 
}}

{{PMID Auto
|PMID=23355348
|Title=Interactions of several single nucleotide polymorphisms and high body mass index on serum lipid traits.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}