{{Rsnum
|rsid=28362286
|Gene=PCSK9
|Chromosome=1
|position=55063542
|Orientation=plus
|ReferenceAllele=C
|GMAF=0.003214
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=PCSK9
}}[[rs28362286]], also known as C679X, is a SNP in the [[PCSK9]] gene.

It has been reported in several studies (including {{PMID|15654334}}) to be both rare (2% frequency in Africans, 0.1% in Europeans) and as a dominant nonsense mutation a cause of plasma LDL-C levels being up to 40% lower than average. This lowered LDL-C level is thought to be directly associated with very significantly lowered risk for coronary events.

{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 0.0 | 0.0 | 0.0
| HCB | 0.0 | 0.0 | 0.0
| JPT | 0.0 | 0.0 | 0.0
| YRI | 0.0 | 4.1 | 95.9
| ASW | 0.0 | 1.8 | 98.2
| CHB | 0.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.9 | 99.1
| MEX | 0.0 | 1.7 | 98.3
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}
[http://blog.23andme.com/2009/07/27/genetic-research-could-lead-to-new-cholesterol-drugs/ 23andMe blog] The T version of [[rs11591147]] and the A version of [[rs28362286]] have both been associated with decreased LDL levels.  Each copy of these variants leads to lower [[LDL cholesterol]].

{{omim
|desc=LOW DENSITY LIPOPROTEIN CHOLESTEROL, LOW PLASMA LEVELS OF
|id=607786
|rsnum=28362286
|variant=0005
}}
{{ neighbor
| rsid = 505151
| distance = 28
}}
{{ClinVar
|rsid=28362286
|Reversed=0
|FwdREF=C
|FwdALT=A
|REF=C
|ALT=A
|RSPOS=55063542
|CHROM=1
|GMAF=0.0032
|dbSNPBuildID=125
|SSR=0
|SAO=1
|VP=0x050268000605040517130100
|GENEINFO=PCSK9:255738
|GENE_NAME=PCSK9
|GENE_ID=255738
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.55063542C>A
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;PMC;S3D;NSN;REF;ASP;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.9968; 0.003214
|CLNACC=RCV000003011.1
|CLNDBN=Low density lipoprotein cholesterol level quantitative trait locus 1
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_174936.3:c.2037C>A; NR_110451.1:n.1644C>A; 607786.0005
|COMMON=1
|Disease=Low density lipoprotein cholesterol level quantitative trait locus 1
}}
{{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.

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}