rs193922781
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common |
| (C;T) | 4 | malignant hyperthermia |
| Make rs193922781(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 38485838 |
| Gene | RYR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922781 |
| dbSNP (classic) | rs193922781 |
| ClinGen | rs193922781 |
| ebi | rs193922781 |
| HLI | rs193922781 |
| Exac | rs193922781 |
| Gnomad | rs193922781 |
| Varsome | rs193922781 |
| LitVar | rs193922781 |
| Map | rs193922781 |
| PheGenI | rs193922781 |
| Biobank | rs193922781 |
| 1000 genomes | rs193922781 |
| hgdp | rs193922781 |
| ensembl | rs193922781 |
| geneview | rs193922781 |
| scholar | rs193922781 |
| rs193922781 | |
| pharmgkb | rs193922781 |
| gwascentral | rs193922781 |
| openSNP | rs193922781 |
| 23andMe | rs193922781 |
| SNPshot | rs193922781 |
| SNPdbe | rs193922781 |
| MSV3d | rs193922781 |
| GWAS Ctlg | rs193922781 |
| Max Magnitude | 4 |
rs193922781, aka p.Ser1728Phe or p.S1728F, is a SNP in the RYR1 gene deemed highly pathogenic for malignant hyperthermia.[PMID 24195946
]
| ClinVar | |
|---|---|
| Risk | rs193922781(T;T) |
| Alt | rs193922781(T;T) |
| Reference | Rs193922781(C;C) |
| Significance | Pathogenic |
| Disease | not provided Malignant hyperthermia |
| Variation | info |
| Gene | RYR1 |
| CLNDBN | not provided Malignant hyperthermia, susceptibility to, 1 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.38976478C>T |
| CLNSRC | ClinVar University of Washington |
| CLNACC | RCV000119633.1, RCV000148807.2, |
