rs193922748
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 3 | malignant hyperthermia |
| Make rs193922748(T;T) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 19 |
| Position | 38440829 |
| Gene | RYR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922748 |
| dbSNP (classic) | rs193922748 |
| ClinGen | rs193922748 |
| ebi | rs193922748 |
| HLI | rs193922748 |
| Exac | rs193922748 |
| Gnomad | rs193922748 |
| Varsome | rs193922748 |
| LitVar | rs193922748 |
| Map | rs193922748 |
| PheGenI | rs193922748 |
| Biobank | rs193922748 |
| 1000 genomes | rs193922748 |
| hgdp | rs193922748 |
| ensembl | rs193922748 |
| geneview | rs193922748 |
| scholar | rs193922748 |
| rs193922748 | |
| pharmgkb | rs193922748 |
| gwascentral | rs193922748 |
| openSNP | rs193922748 |
| 23andMe | rs193922748 |
| SNPshot | rs193922748 |
| SNPdbe | rs193922748 |
| MSV3d | rs193922748 |
| GWAS Ctlg | rs193922748 |
| Max Magnitude | 3 |
aka c.130C>T (p.Arg44Cys or R44C)
23andMe name: i6017660
