rs121918595
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common |
| (C;T) | 3 | susceptibility to malignant hyperthermia |
| Make rs121918595(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 38580094 |
| Gene | RYR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918595 |
| dbSNP (classic) | rs121918595 |
| ClinGen | rs121918595 |
| ebi | rs121918595 |
| HLI | rs121918595 |
| Exac | rs121918595 |
| Gnomad | rs121918595 |
| Varsome | rs121918595 |
| LitVar | rs121918595 |
| Map | rs121918595 |
| PheGenI | rs121918595 |
| Biobank | rs121918595 |
| 1000 genomes | rs121918595 |
| hgdp | rs121918595 |
| ensembl | rs121918595 |
| geneview | rs121918595 |
| scholar | rs121918595 |
| rs121918595 | |
| pharmgkb | rs121918595 |
| gwascentral | rs121918595 |
| openSNP | rs121918595 |
| 23andMe | rs121918595 |
| SNPshot | rs121918595 |
| SNPdbe | rs121918595 |
| MSV3d | rs121918595 |
| GWAS Ctlg | rs121918595 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs121918595(T;T) |
| Alt | rs121918595(T;T) |
| Reference | Rs121918595(C;C) |
| Significance | Other |
| Disease | Malignant hyperthermia not provided |
| Variation | info |
| Gene | RYR1 |
| CLNDBN | Malignant hyperthermia, susceptibility to, 1 not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.39070734C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013847.3, RCV000119520.1, |
rs121918595, aka p.Thr4826Ile or p.T4826I, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.
23andMe name: i6017603
[PMID 16917943] Mutations in RYR1 in malignant hyperthermia and central core disease.
[PMID 18564801] Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots.
