rs118204422
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | susceptibility to malignant hyperthermia |
| (T;T) | 0 | common in clinvar |
| Make rs118204422(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 38543816 |
| Gene | RYR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118204422 |
| dbSNP (classic) | rs118204422 |
| ClinGen | rs118204422 |
| ebi | rs118204422 |
| HLI | rs118204422 |
| Exac | rs118204422 |
| Gnomad | rs118204422 |
| Varsome | rs118204422 |
| LitVar | rs118204422 |
| Map | rs118204422 |
| PheGenI | rs118204422 |
| Biobank | rs118204422 |
| 1000 genomes | rs118204422 |
| hgdp | rs118204422 |
| ensembl | rs118204422 |
| geneview | rs118204422 |
| scholar | rs118204422 |
| rs118204422 | |
| pharmgkb | rs118204422 |
| gwascentral | rs118204422 |
| openSNP | rs118204422 |
| 23andMe | rs118204422 |
| SNPshot | rs118204422 |
| SNPdbe | rs118204422 |
| MSV3d | rs118204422 |
| GWAS Ctlg | rs118204422 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs118204422(C;C) |
| Alt | rs118204422(C;C) |
| Reference | Rs118204422(T;T) |
| Significance | Untested |
| Disease | not provided |
| Variation | info |
| Gene | RYR1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.39034456T>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000119445.1, |
[PMID 18719443] Novel ryanodine receptor mutation that may cause malignant hyperthermia.
