rs564427867
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs564427867(A;A) |
| Make rs564427867(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 55039931 |
| Gene | PCSK9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs564427867 |
| dbSNP (classic) | rs564427867 |
| ClinGen | rs564427867 |
| ebi | rs564427867 |
| HLI | rs564427867 |
| Exac | rs564427867 |
| Gnomad | rs564427867 |
| Varsome | rs564427867 |
| LitVar | rs564427867 |
| Map | rs564427867 |
| PheGenI | rs564427867 |
| Biobank | rs564427867 |
| 1000 genomes | rs564427867 |
| hgdp | rs564427867 |
| ensembl | rs564427867 |
| geneview | rs564427867 |
| scholar | rs564427867 |
| rs564427867 | |
| pharmgkb | rs564427867 |
| gwascentral | rs564427867 |
| openSNP | rs564427867 |
| 23andMe | rs564427867 |
| SNPshot | rs564427867 |
| SNPdbe | rs564427867 |
| MSV3d | rs564427867 |
| GWAS Ctlg | rs564427867 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs564427867(A;A) |
| Alt | rs564427867(A;A) |
| Reference | Rs564427867(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Familial hypercholesterolemia Familial hypobetalipoproteinemia |
| Variation | info |
| Gene | PCSK9 |
| CLNDBN | Familial hypercholesterolemia Familial hypobetalipoproteinemia |
| Reversed | 0 |
| HGVS | NC_000001.10:g.55505604G>A |
| CLNSRC | Illumina |
| CLNACC | RCV000331053.1, RCV000370400.1, |
