rs6234
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs6234(C;G) |
| Make rs6234(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 96393270 |
| Gene | LOC101929710, PCSK1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6234 |
| dbSNP (classic) | rs6234 |
| ClinGen | rs6234 |
| ebi | rs6234 |
| HLI | rs6234 |
| Exac | rs6234 |
| Gnomad | rs6234 |
| Varsome | rs6234 |
| LitVar | rs6234 |
| Map | rs6234 |
| PheGenI | rs6234 |
| Biobank | rs6234 |
| 1000 genomes | rs6234 |
| hgdp | rs6234 |
| ensembl | rs6234 |
| geneview | rs6234 |
| scholar | rs6234 |
| rs6234 | |
| pharmgkb | rs6234 |
| gwascentral | rs6234 |
| openSNP | rs6234 |
| 23andMe | rs6234 |
| SNPshot | rs6234 |
| SNPdbe | rs6234 |
| MSV3d | rs6234 |
| GWAS Ctlg | rs6234 |
| GMAF | 0.258 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 22307923
] Allelic clustering and ancestry-dependent frequencies of rs6232, rs6234, and rs6235 PCSK1 SNPs in a Northern Ontario population sample
[PMID 20498726] Association of PCSK1 rs6234 with obesity and related traits in a Chinese Han population.
[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 24489861] 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
[PMID 24964673] Effects of PCSK1 genetic variants on obesity among Thai children and their family members: in relation to health risk, and biochemical and anthropometric parameters
[PMID 26207343] Revisiting PC1/3 mutants: dominant-negative effect of endoplasmic reticulum-retained mutants
| ClinVar | |
|---|---|
| Risk | rs6234(G;G) |
| Alt | rs6234(G;G) |
| Reference | Rs6234(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Proprotein convertase 1/3 deficiency Monogenic Non-Syndromic Obesity |
| Variation | info |
| Gene | PCSK1 LOC101929710 |
| CLNDBN | Proprotein convertase 1/3 deficiency Monogenic Non-Syndromic Obesity |
| Reversed | 1 |
| HGVS | NC_000005.9:g.95728974G>C |
| CLNSRC | |
| CLNACC | RCV000342685.1, RCV000397598.1, |
