rs79457258
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs79457258(A;A) |
| Make rs79457258(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 237550629 |
| Gene | RYR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs79457258 |
| dbSNP (classic) | rs79457258 |
| ClinGen | rs79457258 |
| ebi | rs79457258 |
| HLI | rs79457258 |
| Exac | rs79457258 |
| Gnomad | rs79457258 |
| Varsome | rs79457258 |
| LitVar | rs79457258 |
| Map | rs79457258 |
| PheGenI | rs79457258 |
| Biobank | rs79457258 |
| 1000 genomes | rs79457258 |
| hgdp | rs79457258 |
| ensembl | rs79457258 |
| geneview | rs79457258 |
| scholar | rs79457258 |
| rs79457258 | |
| pharmgkb | rs79457258 |
| gwascentral | rs79457258 |
| openSNP | rs79457258 |
| 23andMe | rs79457258 |
| SNPshot | rs79457258 |
| SNPdbe | rs79457258 |
| MSV3d | rs79457258 |
| GWAS Ctlg | rs79457258 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs79457258(A;A) |
| Alt | rs79457258(A;A) |
| Reference | Rs79457258(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | RYR2 |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000001.10:g.237713929G>A |
| CLNSRC | |
| CLNACC | RCV000036724.3, |
