{{Rsnum
|rsid=6235
|Gene=PCSK1
|Chromosome=5
|position=96393194
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.2461
|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 | 4.6 | 44.6 | 50.8
| HCB | 17.8 | 40.0 | 42.2
| JPT | 2.3 | 25.0 | 72.7
| YRI | 1.6 | 20.6 | 77.8
| ASW | 0.0 | 0.0 | 0.0
| CHB | 17.8 | 40.0 | 42.2
| 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=6235
|allele=G
|frequency=0.267
|uid=1103654167117
|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 = 6234
| distance = 76
}}
{{PMID Auto
|PMID=19528091
|Title=Association of variants in the PCSK1 gene with obesity in the EPIC-Norfolk Study
|OA=1
}}

{{omim
|desc=BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12
|id=612362
|rsnum=6235
}}

{{omim
|desc=PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1; PCSK1
|id=162150
|rsnum=6235
}}

{{PharmGKB
|RSID=rs6235
|Name_s=PCSK1: S690T
|Gene_s=PCSK1
|Feature=
|Evidence=PubMed ID:18604207
|Annotation=This variant (PCSK1: S690T) is highly correlated with the nonsynonymous SNP rs 6234 (PCSK1: Q665E). 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=PA162168963
}}

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

{{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 GWAS
|PMID=21873549
|Trait=None
|Title=Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
|RiskAllele=G
|Pval=1E-26
|OR=None
|ORtxt=None
|OA=1
}}

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

{{PMID Auto
|PMID=19164386
|Title=Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden.
|OA=1
}}

{{PMID Auto
|PMID=19526209
|Title=Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?
|OA=1
}}

{{PMID Auto
|PMID=19876004
|Title=Obesity-related polymorphisms and their associations with the ability to regulate fat oxidation in obese Europeans: the NUGENOB study.
}}

{{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=Ser690Thr
|aa_change_short=S690T
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6235
|overall_frequency_n=2530
|overall_frequency_d=10758
|overall_frequency=0.235174
|n_genomes=20
|n_genomes_annotated=0
|n_haplomes=24
|n_articles=1
|n_articles_annotated=1
|gene_in_genetests=Y
|in_pharmgkb=Y
|pph2_score=0.061
|genetests_testable=Y
|nblosum100=-2
|autoscore=3
|webscore=N
|n_web_uneval=10
}}

{{PMID Auto
|PMID=23098650
|Title=Impact of variants within seven candidate genes on statin treatment efficacy
}}

{{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
}}

{{PMID Auto
|PMID=23424664
|Title=Study of 11 BMI-associated loci identified in GWAS for associations with central obesity in the Chinese children
|OA=1
}}

{{PMID Auto
|PMID=24140494
|Title=Association of the rs6235 variant in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene with obesity and related traits in a Taiwanese population
}}

{{PMID Auto
|PMID=24269186
|Title=An obesity genetic risk score is associated with metabolic syndrome in Chinese children
}}

{{PMID Auto GWAS
  |PMID=23903356
  |Trait=Glycemic traits (pregnancy)
  |Title=Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
  |RiskAllele=G
  |Pval=5E-15
  |OR=.01
  |ORtxt=[NR] unit decrease
  }}

{{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}}