rs193922803
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | malignant hyperthermia |
| Make rs193922803(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 19 |
| Position | 38499670 |
| Gene | RYR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922803 |
| dbSNP (classic) | rs193922803 |
| ClinGen | rs193922803 |
| ebi | rs193922803 |
| HLI | rs193922803 |
| Exac | rs193922803 |
| Gnomad | rs193922803 |
| Varsome | rs193922803 |
| LitVar | rs193922803 |
| Map | rs193922803 |
| PheGenI | rs193922803 |
| Biobank | rs193922803 |
| 1000 genomes | rs193922803 |
| hgdp | rs193922803 |
| ensembl | rs193922803 |
| geneview | rs193922803 |
| scholar | rs193922803 |
| rs193922803 | |
| pharmgkb | rs193922803 |
| gwascentral | rs193922803 |
| openSNP | rs193922803 |
| 23andMe | rs193922803 |
| SNPshot | rs193922803 |
| SNPdbe | rs193922803 |
| MSV3d | rs193922803 |
| GWAS Ctlg | rs193922803 |
| Max Magnitude | 3 |
aka c.7063C>T (p.Arg2355Trp or R2355W)
| ClinVar | |
|---|---|
| Risk | rs193922803(T;T) |
| Alt | rs193922803(T;T) |
| Reference | Rs193922803(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | RYR1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.38990310C>T |
| CLNSRC | |
| CLNACC | RCV000119682.2, |
