rs6232
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (A;G) | 2 | Higher risk of obesity and insulin sensitivity |
| (G;G) | 2.1 | Higher risk of obesity and insulin sensitivity |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 96416081 |
| Gene | LOC101929710, PCSK1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6232 |
| dbSNP (classic) | rs6232 |
| ClinGen | rs6232 |
| ebi | rs6232 |
| HLI | rs6232 |
| Exac | rs6232 |
| Gnomad | rs6232 |
| Varsome | rs6232 |
| LitVar | rs6232 |
| Map | rs6232 |
| PheGenI | rs6232 |
| Biobank | rs6232 |
| 1000 genomes | rs6232 |
| hgdp | rs6232 |
| ensembl | rs6232 |
| geneview | rs6232 |
| scholar | rs6232 |
| rs6232 | |
| pharmgkb | rs6232 |
| gwascentral | rs6232 |
| openSNP | rs6232 |
| 23andMe | rs6232 |
| SNPshot | rs6232 |
| SNPdbe | rs6232 |
| MSV3d | rs6232 |
| GWAS Ctlg | rs6232 |
| GMAF | 0.01791 |
| Max Magnitude | 2.1 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
- rs6232 G allele (in dbSNP orientation) linked to 1.34x increased risk of obesity
- rs6234/rs6235 (or rs10515237)
see also: spitoon
[PMID 19528091
] Association of variants in the PCSK1 gene with obesity in the EPIC-Norfolk Study
[PMID 20534142] Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion
[PMID 21935364] The Effect of PCSK1 Variants on Waist, Waist-Hip Ratio and Glucose Metabolism Is Modified by Sex and Glucose Tolerance Status
[PMID 22307923] Allelic clustering and ancestry-dependent frequencies of rs6232, rs6234, and rs6235 PCSK1 SNPs in a Northern Ontario population sample
[PMID 22737226] PCSK1 rs6232 Is Associated with Childhood and Adult Class III Obesity in the Mexican Population
| ClinVar | |
|---|---|
| Risk | Rs6232(G;G) |
| Alt | Rs6232(G;G) |
| Reference | Rs6232(A;A) |
| Significance | Other |
| Disease | Body mass index quantitative trait locus 12 |
| Variation | info |
| Gene | PCSK1 LOC101929710 |
| CLNDBN | Body mass index quantitative trait locus 12 |
| Reversed | 1 |
| HGVS | NC_000005.9:g.95751785T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000022673.3, |
[PMID 18698231] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
[PMID 19079261] Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
[PMID 22000902] Effects of rs6234/rs6235 and rs6232/rs6234/rs6235 PCSK1 single-nucleotide polymorphism clusters on proprotein convertase 1/3 biosynthesis and activity.
[PMID 23383060] Functional Consequences of a Novel Variant of PCSK1
[PMID 23451278] Contribution of Common PCSK1 Genetic Variants to Obesity in 8,359 Subjects from Multi-Ethnic American Population
[PMID 26207343] Revisiting PC1/3 mutants: dominant-negative effect of endoplasmic reticulum-retained mutants
[PMID 31504391] Reduced stability and pH-dependent activity of a common obesity-linked PCSK1 polymorphism, N221D.
