{{Rsnum
|rsid=6234
|Gene=PCSK1
|Chromosome=5
|position=96393270
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.258
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=CTD-2337A12.1,PCSK1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 50.0 | 45.3 | 4.7
| HCB | 42.2 | 40.0 | 17.8
| JPT | 72.7 | 25.0 | 2.3
| YRI | 65.1 | 33.3 | 1.6
| ASW | 0.0 | 0.0 | 0.0
| CHB | 42.2 | 40.0 | 17.8
| 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
}}{{Venter SNP
|rsid=6234
|allele=C
|frequency=0.271
|uid=1103654167116
|type=heterozygous_SNP
|hugo=PCSK1
|ensembl gene=ENSG00000175426
|ensembl transcript=ENST00000311106
|sift=TOLERATED
|disease=Defects in PCSK1 are the cause of proprotein convertase 1 deficiency (PC1 deficiency) (MIM:600955). This disease is characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones.
}}

{{ neighbor
| rsid = 6235
| distance = 76
}}

{{omim
|desc=BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12
|id=612362
|rsnum=6234
}}

{{omim
|desc=PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1; PCSK1
|id=162150
|rsnum=6234
}}

{{PharmGKB
|RSID=rs6234
|Name_s=PCSK1: Q665E
|Gene_s=PCSK1
|Feature=
|Evidence=PubMed ID:18604207
|Annotation=This variant (PCSK1: Q665E) is highly correlated with the nonsynonymous SNP rs 6235 (PCSK1: S690T). In a study at 13,659 individuals of European ancestry the Q665E-S690T pair was consistently associated with obesity in adults and children.
|Drugs=
|Drug Classes=
|Diseases=Obesity
|Curation Level=Curated
|PharmGKB Accession ID=PA162168962
}}

{{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=20498726
|Title=Association of PCSK1 rs6234 with obesity and related traits in a Chinese Han population.
|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=Gln665Glu
|aa_change_short=Q665E
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6234
|overall_frequency_n=2659
|overall_frequency_d=10758
|overall_frequency=0.247165
|n_genomes=21
|n_genomes_annotated=0
|n_haplomes=25
|n_articles=1
|n_articles_annotated=1
|gene_in_genetests=Y
|in_pharmgkb=Y
|genetests_testable=Y
|nblosum100=-2
|autoscore=3
|webscore=N
|n_web_uneval=10
}}

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

{{PMID Auto
|PMID=24489861
|Title=Genetic Variants in PCSK1 Gene Are Associated with the Risk of Coronary Artery Disease in Type 2 Diabetes in a Chinese Han Population: A Case Control Study
|OA=1
}}

{{PMID Auto
|PMID=24964673
|Title=Effects of PCSK1 genetic variants on obesity among Thai children and their family members: in relation to health risk, and biochemical and anthropometric parameters
}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}