rs764603059
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs764603059(G;T) |
| Make rs764603059(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 55039940 |
| Gene | PCSK9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs764603059 |
| dbSNP (classic) | rs764603059 |
| ClinGen | rs764603059 |
| ebi | rs764603059 |
| HLI | rs764603059 |
| Exac | rs764603059 |
| Gnomad | rs764603059 |
| Varsome | rs764603059 |
| LitVar | rs764603059 |
| Map | rs764603059 |
| PheGenI | rs764603059 |
| Biobank | rs764603059 |
| 1000 genomes | rs764603059 |
| hgdp | rs764603059 |
| ensembl | rs764603059 |
| geneview | rs764603059 |
| scholar | rs764603059 |
| rs764603059 | |
| pharmgkb | rs764603059 |
| gwascentral | rs764603059 |
| openSNP | rs764603059 |
| 23andMe | rs764603059 |
| SNPshot | rs764603059 |
| SNPdbe | rs764603059 |
| MSV3d | rs764603059 |
| GWAS Ctlg | rs764603059 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs764603059(T;T) |
| Alt | rs764603059(T;T) |
| Reference | Rs764603059(G;G) |
| Significance | Pathogenic |
| Disease | Hypercholesterolemia |
| Variation | info |
| Gene | PCSK9 |
| CLNDBN | Hypercholesterolemia, autosomal dominant, 3 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.55505613G>T |
| CLNSRC | |
| CLNACC | RCV000417231.1, |
