rs369512347
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs369512347(A;G) |
| Make rs369512347(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 237388129 |
| Gene | RYR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs369512347 |
| dbSNP (classic) | rs369512347 |
| ClinGen | rs369512347 |
| ebi | rs369512347 |
| HLI | rs369512347 |
| Exac | rs369512347 |
| Gnomad | rs369512347 |
| Varsome | rs369512347 |
| LitVar | rs369512347 |
| Map | rs369512347 |
| PheGenI | rs369512347 |
| Biobank | rs369512347 |
| 1000 genomes | rs369512347 |
| hgdp | rs369512347 |
| ensembl | rs369512347 |
| geneview | rs369512347 |
| scholar | rs369512347 |
| rs369512347 | |
| pharmgkb | rs369512347 |
| gwascentral | rs369512347 |
| openSNP | rs369512347 |
| 23andMe | rs369512347 |
| SNPshot | rs369512347 |
| SNPdbe | rs369512347 |
| MSV3d | rs369512347 |
| GWAS Ctlg | rs369512347 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs369512347(C;C) rs369512347(G;G) |
| Alt | rs369512347(C;C) rs369512347(G;G) |
| Reference | Rs369512347(A;A) |
| Significance | Probable-Pathogenic |
| Disease | not provided not specified |
| Variation | info |
| Gene | RYR2 |
| CLNDBN | not provided not specified |
| Reversed | 0 |
| HGVS | NC_000001.10:g.237551429A>C; NC_000001.10:g.237551429A>G |
| CLNSRC | |
| CLNACC | RCV000182664.1, RCV000036787.2, |
