rs190140598
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs190140598(C;T) |
| Make rs190140598(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 237445488 |
| Gene | RYR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs190140598 |
| dbSNP (classic) | rs190140598 |
| ClinGen | rs190140598 |
| ebi | rs190140598 |
| HLI | rs190140598 |
| Exac | rs190140598 |
| Gnomad | rs190140598 |
| Varsome | rs190140598 |
| LitVar | rs190140598 |
| Map | rs190140598 |
| PheGenI | rs190140598 |
| Biobank | rs190140598 |
| 1000 genomes | rs190140598 |
| hgdp | rs190140598 |
| ensembl | rs190140598 |
| geneview | rs190140598 |
| scholar | rs190140598 |
| rs190140598 | |
| pharmgkb | rs190140598 |
| gwascentral | rs190140598 |
| openSNP | rs190140598 |
| 23andMe | rs190140598 |
| SNPshot | rs190140598 |
| SNPdbe | rs190140598 |
| MSV3d | rs190140598 |
| GWAS Ctlg | rs190140598 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs190140598(T;T) |
| Alt | rs190140598(T;T) |
| Reference | Rs190140598(C;C) |
| Significance | Pathogenic |
| Disease | not provided Ventricular fibrillation Catecholaminergic polymorphic ventricular tachycardia |
| Variation | info |
| Gene | RYR2 |
| CLNDBN | not provided Ventricular fibrillation Catecholaminergic polymorphic ventricular tachycardia |
| Reversed | 0 |
| HGVS | NC_000001.10:g.237608788C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000182680.3, RCV000202619.1, RCV000219729.1, |
