rs143275858
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs143275858(A;A) |
| Make rs143275858(A;C) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 55058106 |
| Gene | PCSK9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs143275858 |
| dbSNP (classic) | rs143275858 |
| ClinGen | rs143275858 |
| ebi | rs143275858 |
| HLI | rs143275858 |
| Exac | rs143275858 |
| Gnomad | rs143275858 |
| Varsome | rs143275858 |
| LitVar | rs143275858 |
| Map | rs143275858 |
| PheGenI | rs143275858 |
| Biobank | rs143275858 |
| 1000 genomes | rs143275858 |
| hgdp | rs143275858 |
| ensembl | rs143275858 |
| geneview | rs143275858 |
| scholar | rs143275858 |
| rs143275858 | |
| pharmgkb | rs143275858 |
| gwascentral | rs143275858 |
| openSNP | rs143275858 |
| 23andMe | rs143275858 |
| SNPshot | rs143275858 |
| SNPdbe | rs143275858 |
| MSV3d | rs143275858 |
| GWAS Ctlg | rs143275858 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs143275858(A;A) |
| Alt | rs143275858(A;A) |
| Reference | Rs143275858(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Familial hypercholesterolemia Hypercholesterolemia |
| Variation | info |
| Gene | PCSK9 |
| CLNDBN | Familial hypercholesterolemia Hypercholesterolemia, autosomal dominant, 3 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.55523779C>A |
| CLNSRC | The University of Western Ontario |
| CLNACC | RCV000408779.1, RCV000417285.1, |
