rs562556
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (G;G) | 0 | common in clinvar |
| Make rs562556(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 55058564 |
| Gene | PCSK9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs562556 |
| dbSNP (classic) | rs562556 |
| ClinGen | rs562556 |
| ebi | rs562556 |
| HLI | rs562556 |
| Exac | rs562556 |
| Gnomad | rs562556 |
| Varsome | rs562556 |
| LitVar | rs562556 |
| Map | rs562556 |
| PheGenI | rs562556 |
| Biobank | rs562556 |
| 1000 genomes | rs562556 |
| hgdp | rs562556 |
| ensembl | rs562556 |
| geneview | rs562556 |
| scholar | rs562556 |
| rs562556 | |
| pharmgkb | rs562556 |
| gwascentral | rs562556 |
| openSNP | rs562556 |
| 23andMe | rs562556 |
| SNPshot | rs562556 |
| SNPdbe | rs562556 |
| MSV3d | rs562556 |
| GWAS Ctlg | rs562556 |
| GMAF | 0.1474 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 18300938
] rs505151 rs562556 show evidence of 'gain-of-function' mutations that are associated with higher LDL cholesterol levels.
[PMID 18704161] Genetic variation in an individual human exome.
| ClinVar | |
|---|---|
| Risk | Rs562556(A;A) |
| Alt | Rs562556(A;A) |
| Reference | Rs562556(G;G) |
| Significance | Other |
| Disease | not specified Familial hypercholesterolemia Familial hypobetalipoproteinemia |
| Variation | info |
| Gene | PCSK9 |
| CLNDBN | not specified Familial hypercholesterolemia Familial hypobetalipoproteinemia |
| Reversed | 0 |
| HGVS | NC_000001.10:g.55524237G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000182572.3, RCV000256256.2, RCV000330942.1, |
[PMID 26820623] LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers.
[PMID 31036026] The association of the PCSK9 rs562556 polymorphism with serum lipids level: a meta-analysis.
