rs397516539
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs397516539(A;A) |
| Make rs397516539(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 237377365 |
| Gene | RYR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397516539 |
| dbSNP (classic) | rs397516539 |
| ClinGen | rs397516539 |
| ebi | rs397516539 |
| HLI | rs397516539 |
| Exac | rs397516539 |
| Gnomad | rs397516539 |
| Varsome | rs397516539 |
| LitVar | rs397516539 |
| Map | rs397516539 |
| PheGenI | rs397516539 |
| Biobank | rs397516539 |
| 1000 genomes | rs397516539 |
| hgdp | rs397516539 |
| ensembl | rs397516539 |
| geneview | rs397516539 |
| scholar | rs397516539 |
| rs397516539 | |
| pharmgkb | rs397516539 |
| gwascentral | rs397516539 |
| openSNP | rs397516539 |
| 23andMe | rs397516539 |
| SNPshot | rs397516539 |
| SNPdbe | rs397516539 |
| MSV3d | rs397516539 |
| GWAS Ctlg | rs397516539 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397516539(A;A) rs397516539(T;T) |
| Alt | rs397516539(A;A) rs397516539(T;T) |
| Reference | Rs397516539(G;G) |
| Significance | Pathogenic |
| Disease | Catecholaminergic polymorphic ventricular tachycardia not provided |
| Variation | info |
| Gene | RYR2 |
| CLNDBN | Catecholaminergic polymorphic ventricular tachycardia not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.237540665G>A; NC_000001.10:g.237540665G>T |
| CLNSRC | |
| CLNACC | RCV000036762.2, RCV000182658.2, RCV000413267.1, |
