{{Rsnum
|rsid=67608943
|Gene=PCSK9
|Chromosome=1
|position=55046549
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=PCSK9
}}{{omim
|id=607786
|rsnum=67608943
|variant=0004
}}
[[rs67608943]], also known as Y142X, 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.

{{omim
|id=607786
|rsnum=67608943
|variant=0007
}}

{{ClinVar
|rsid=67608943
|Reversed=0
|FwdREF=C
|FwdALT=G
|REF=C
|ALT=G
|RSPOS=55046549
|CHROM=1
|GMAF=0.0005
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x05026008060504011e110100
|GENEINFO=PCSK9:255738
|GENE_NAME=PCSK9
|GENE_ID=255738
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.55046549C>G
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;S3D;NSN;REF;INT;ASP;VLD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNACC=RCV000003010.1
|CLNDBN=Low density lipoprotein cholesterol level quantitative trait locus 1
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_174936.3:c.426C>G; NR_110451.1:n.183-5729C>G; 607786.0004; 607786.0007
|COMMON=0
|Disease=Low density lipoprotein cholesterol level quantitative trait locus 1
}}

{{GET Evidence
|gene=PCSK9
|aa_change=Tyr142Stop
|aa_change_short=Y142X
|impact=protective
|qualified_impact=Moderate clinical importance,  protective
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs67608943
|overall_frequency_n=14
|overall_frequency_d=10758
|overall_frequency=0.00130136
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_case_control=4
|qualitycomment_case_control=Y
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=4
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|nblosum100=10
|autoscore=5
|webscore=N
|n_web_uneval=10
|variant_evidence=1
|clinical_importance=2
|summary_short=This rare protective variant is found in African Americans and is associated with a greatly decreased risk of coronary heart disease (~80-90% lower risk than average) and with a 30-40% reduction in LDL levels.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}