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, |