rs794728683
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs794728683(A;A) |
| Make rs794728683(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 55052398 |
| Gene | PCSK9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794728683 |
| dbSNP (classic) | rs794728683 |
| ClinGen | rs794728683 |
| ebi | rs794728683 |
| HLI | rs794728683 |
| Exac | rs794728683 |
| Gnomad | rs794728683 |
| Varsome | rs794728683 |
| LitVar | rs794728683 |
| Map | rs794728683 |
| PheGenI | rs794728683 |
| Biobank | rs794728683 |
| 1000 genomes | rs794728683 |
| hgdp | rs794728683 |
| ensembl | rs794728683 |
| geneview | rs794728683 |
| scholar | rs794728683 |
| rs794728683 | |
| pharmgkb | rs794728683 |
| gwascentral | rs794728683 |
| openSNP | rs794728683 |
| 23andMe | rs794728683 |
| SNPshot | rs794728683 |
| SNPdbe | rs794728683 |
| MSV3d | rs794728683 |
| GWAS Ctlg | rs794728683 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs794728683(A;A) |
| Alt | rs794728683(A;A) |
| Reference | Rs794728683(G;G) |
| Significance | Pathogenic |
| Disease | not provided Hypercholesterolemia |
| Variation | info |
| Gene | PCSK9 |
| CLNDBN | not provided Hypercholesterolemia, autosomal dominant, 3 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.55518071G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000182575.2, RCV000412537.1, |
