rs397516510
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs397516510(A;A) |
| Make rs397516510(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 237791480 |
| Gene | RYR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397516510 |
| dbSNP (classic) | rs397516510 |
| ClinGen | rs397516510 |
| ebi | rs397516510 |
| HLI | rs397516510 |
| Exac | rs397516510 |
| Gnomad | rs397516510 |
| Varsome | rs397516510 |
| LitVar | rs397516510 |
| Map | rs397516510 |
| PheGenI | rs397516510 |
| Biobank | rs397516510 |
| 1000 genomes | rs397516510 |
| hgdp | rs397516510 |
| ensembl | rs397516510 |
| geneview | rs397516510 |
| scholar | rs397516510 |
| rs397516510 | |
| pharmgkb | rs397516510 |
| gwascentral | rs397516510 |
| openSNP | rs397516510 |
| 23andMe | rs397516510 |
| SNPshot | rs397516510 |
| SNPdbe | rs397516510 |
| MSV3d | rs397516510 |
| GWAS Ctlg | rs397516510 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397516510(A;A) rs397516510(T;T) |
| Alt | rs397516510(A;A) rs397516510(T;T) |
| Reference | Rs397516510(G;G) |
| Significance | Pathogenic |
| Disease | not specified Ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia not provided |
| Variation | info |
| Gene | RYR2 |
| CLNDBN | not specified Ventricular tachycardia, catecholaminergic polymorphic, 1 Catecholaminergic polymorphic ventricular tachycardia not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.237954780G>A; NC_000001.10:g.237954780G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000036678.3, RCV000208469.1, RCV000231726.1, RCV000182838.2, |
