{{Rsnum
|rsid=6232
|Gene=PCSK1
|Chromosome=5
|position=96416081
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.01791
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CTD-2337A12.1,PCSK1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 91.2 | 8.8 | 0.0
| HCB | 99.3 | 0.7 | 0.0
| JPT | 99.1 | 0.9 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 99.3 | 0.7 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 92.1 | 7.9 | 0.0
| LWK | 99.1 | 0.9 | 0.0
| MEX | 98.3 | 1.7 | 0.0
| MKK | 98.1 | 1.9 | 0.0
| TSI | 94.1 | 5.9 | 0.0
| HapMapRevision=28
}}{{PMID|18604207}} 
*[[rs6232]] G allele (in dbSNP orientation) linked to 1.34x increased risk of [[obesity]]
*[[rs6234]]/[[rs6235]] (or [[rs10515237]])
see also: [http://blog.23andme.com/2008/07/06/snpwatch-researchers-find-genetic-variants-that-may-influence-the-risk-for-obesity/ spitoon]

{{PMID Auto
|PMID=19528091
|Title=Association of variants in the PCSK1 gene with obesity in the EPIC-Norfolk Study
|OA=1
}}

{{omim
|id=612362
|desc=BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12
|rsnum=6232
}}

{{omim
|id=162150
|desc=PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1; PCSK1
|rsnum=6232
}}

{{PharmGKB
|RSID=rs6232
|Name_s=PCSK1: N221D
|Gene_s=PCSK1
|Feature=
|Evidence=PubMed ID:18604207
|Annotation=In a study at 13,659 individuals of European ancestry the N221D variant was consistently associated with obesity in adults and children.
|Drugs=
|Drug Classes=
|Diseases=Obesity
|Curation Level=Curated
|PharmGKB Accession ID=PA162168961
}}

{{PMID Auto
|PMID=20534142
|Title=Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion
|OA=1
}}

{{omim
|id=162150
|rsnum=6232
|variant=0005
}}

{{PMID Auto
|PMID=21935364
|Title=The Effect of PCSK1 Variants on Waist, Waist-Hip Ratio and Glucose Metabolism Is Modified by Sex and Glucose Tolerance Status
|OA=1
}}

{{PMID Auto
|PMID=22307923
|Title=Allelic clustering and ancestry-dependent frequencies of rs6232, rs6234, and rs6235 PCSK1 SNPs in a Northern Ontario population sample
|OA=1
}}

{{PMID Auto
|PMID=22737226
|Title=PCSK1 rs6232 Is Associated with Childhood and Adult Class III Obesity in the Mexican Population
|OA=1
}}

{{ClinVar
|rsid=6232
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=95751785
|CHROM=5
|GMAF=0.0179
|dbSNPBuildID=52
|SSR=0
|SAO=1
|VP=0x050268000000150517110101
|GENEINFO=PCSK1:5122
|GENE_NAME=PCSK1
|GENE_ID=5122
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.95751785T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=162150.0005
|CLNSIG=255
|CLNCUI=C2676498
|CLNDBN=Body mass index quantitative trait locus 12
|Disease=Body mass index quantitative trait locus 12
|CLNACC=RCV000022673.1
|Tags=RV;PM;PMC;S3D;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9821; 0.01791
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C2676498:612362
|COMMON=1
}}

{{PMID Auto
|PMID=18698231
|Title=Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
|OA=1
}}

{{PMID Auto
|PMID=19079261
|Title=Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
|OA=1
}}

{{PMID Auto
|PMID=22000902
|Title=Effects of rs6234/rs6235 and rs6232/rs6234/rs6235 PCSK1 single-nucleotide polymorphism clusters on proprotein convertase 1/3 biosynthesis and activity.
}}

{{GET Evidence
|gene=PCSK1
|aa_change=Asn221Asp
|aa_change_short=N221D
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6232
|overall_frequency_n=384
|overall_frequency_d=10758
|overall_frequency=0.0356944
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=1
|n_articles_annotated=1
|gene_in_genetests=Y
|in_omim=Y
|in_pharmgkb=Y
|pph2_score=0.006
|genetests_testable=Y
|nblosum100=-1
|autoscore=3
|webscore=N
|n_web_uneval=9
}}

[[Obesity: Preliminary Research]]

{{PMID Auto
|PMID=23383060
|Title=Functional Consequences of a Novel Variant of PCSK1
|OA=1
}}

{{PMID Auto
|PMID=23451278
|Title=Contribution of Common PCSK1 Genetic Variants to Obesity in 8,359 Subjects from Multi-Ethnic American Population
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}