rs505151
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (G;G) | 0 | common in clinvar |
| Make rs505151(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 55063514 |
| Gene | PCSK9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs505151 |
| dbSNP (classic) | rs505151 |
| ClinGen | rs505151 |
| ebi | rs505151 |
| HLI | rs505151 |
| Exac | rs505151 |
| Gnomad | rs505151 |
| Varsome | rs505151 |
| LitVar | rs505151 |
| Map | rs505151 |
| PheGenI | rs505151 |
| Biobank | rs505151 |
| 1000 genomes | rs505151 |
| hgdp | rs505151 |
| ensembl | rs505151 |
| geneview | rs505151 |
| scholar | rs505151 |
| rs505151 | |
| pharmgkb | rs505151 |
| gwascentral | rs505151 |
| openSNP | rs505151 |
| 23andMe | rs505151 |
| SNPshot | rs505151 |
| SNPdbe | rs505151 |
| MSV3d | rs505151 |
| GWAS Ctlg | rs505151 |
| GMAF | 0.09826 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs505151 is a SNP, also known as E670G or 23968A>G, in the proprotein convertase subtilisin/kexin type 9 PCSK9 gene. rs505151(G) encodes the Gly (G), and rs505151(A) encodes the Glutamic acid (E).
In a study of 506 European polygenic hypercholesterolemia patients, the rs505151(G) allele was found with increased frequency in men but not in women.[PMID 16875509
]
[PMID 18300938] rs505151 rs562556 show evidence of 'gain-of-function' mutations that are associated with higher LDL cholesterol levels.
| ClinVar | |
|---|---|
| Risk | Rs505151(A;A) |
| Alt | Rs505151(A;A) |
| Reference | Rs505151(G;G) |
| Significance | Other |
| Disease | Familial hypercholesterolemia not specified Familial hypobetalipoproteinemia |
| Variation | info |
| Gene | PCSK9 |
| CLNDBN | Familial hypercholesterolemia not specified Familial hypobetalipoproteinemia |
| Reversed | 0 |
| HGVS | NC_000001.10:g.55529187G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000030349.2, RCV000252382.2, RCV000364880.1, |
[PMID 20031607] Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study.
[PMID 21232153] The proprotein convertase subtilisin/kexin type 9 gene E670G polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations.
[PMID 21741043] Genetic variability within the cholesterol lowering pathway and the effectiveness of statins in reducing the risk of MI.
[PMID 19191301] Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.
[PMID 23355348] Interactions of several single nucleotide polymorphisms and high body mass index on serum lipid traits.
[PMID 31144980] INSIG2 gene polymorphism is associated with higher blood pressure and triglyceride levels in Brazilian obese subjects.
