rs193922747
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | susceptibility to malignant hyperthermia |
| (T;T) | 0 | common |
| Make rs193922747(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 38440802 |
| Gene | RYR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922747 |
| dbSNP (classic) | rs193922747 |
| ClinGen | rs193922747 |
| ebi | rs193922747 |
| HLI | rs193922747 |
| Exac | rs193922747 |
| Gnomad | rs193922747 |
| Varsome | rs193922747 |
| LitVar | rs193922747 |
| Map | rs193922747 |
| PheGenI | rs193922747 |
| Biobank | rs193922747 |
| 1000 genomes | rs193922747 |
| hgdp | rs193922747 |
| ensembl | rs193922747 |
| geneview | rs193922747 |
| scholar | rs193922747 |
| rs193922747 | |
| pharmgkb | rs193922747 |
| gwascentral | rs193922747 |
| openSNP | rs193922747 |
| 23andMe | rs193922747 |
| SNPshot | rs193922747 |
| SNPdbe | rs193922747 |
| MSV3d | rs193922747 |
| GWAS Ctlg | rs193922747 |
| Max Magnitude | 3 |
rs193922747, aka p.Cys35Arg or p.C35R, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.
23andMe name: i6017748
| ClinVar | |
|---|---|
| Risk | rs193922747(C;C) |
| Alt | rs193922747(C;C) |
| Reference | Rs193922747(T;T) |
| Significance | Untested |
| Disease | not provided |
| Variation | info |
| Gene | RYR1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.38931442T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000119411.1, |
