rs200236750
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs200236750(C;T) |
| Make rs200236750(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 1 |
| Position | 237566672 |
| Gene | RYR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200236750 |
| dbSNP (classic) | rs200236750 |
| ClinGen | rs200236750 |
| ebi | rs200236750 |
| HLI | rs200236750 |
| Exac | rs200236750 |
| Gnomad | rs200236750 |
| Varsome | rs200236750 |
| LitVar | rs200236750 |
| Map | rs200236750 |
| PheGenI | rs200236750 |
| Biobank | rs200236750 |
| 1000 genomes | rs200236750 |
| hgdp | rs200236750 |
| ensembl | rs200236750 |
| geneview | rs200236750 |
| scholar | rs200236750 |
| rs200236750 | |
| pharmgkb | rs200236750 |
| gwascentral | rs200236750 |
| openSNP | rs200236750 |
| 23andMe | rs200236750 |
| SNPshot | rs200236750 |
| SNPdbe | rs200236750 |
| MSV3d | rs200236750 |
| GWAS Ctlg | rs200236750 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200236750(T;T) |
| Alt | rs200236750(T;T) |
| Reference | Rs200236750(C;C) |
| Significance | Pathogenic |
| Disease | not specified Ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia Death in infancy |
| Variation | info |
| Gene | RYR2 |
| CLNDBN | not specified Ventricular tachycardia, catecholaminergic polymorphic, 1 Catecholaminergic polymorphic ventricular tachycardia Death in infancy |
| Reversed | 0 |
| HGVS | NC_000001.10:g.237729972C>T |
| CLNSRC | |
| CLNACC | RCV000036728.5, RCV000171761.2, RCV000228614.1, RCV000234976.1, |
