rs121918593
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | susceptibility to malignant hyperthermia |
| (G;G) | 0 | common |
| Make rs121918593(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 38499993 |
| Gene | RYR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918593 |
| dbSNP (classic) | rs121918593 |
| ClinGen | rs121918593 |
| ebi | rs121918593 |
| HLI | rs121918593 |
| Exac | rs121918593 |
| Gnomad | rs121918593 |
| Varsome | rs121918593 |
| LitVar | rs121918593 |
| Map | rs121918593 |
| PheGenI | rs121918593 |
| Biobank | rs121918593 |
| 1000 genomes | rs121918593 |
| hgdp | rs121918593 |
| ensembl | rs121918593 |
| geneview | rs121918593 |
| scholar | rs121918593 |
| rs121918593 | |
| pharmgkb | rs121918593 |
| gwascentral | rs121918593 |
| openSNP | rs121918593 |
| 23andMe | rs121918593 |
| SNPshot | rs121918593 |
| SNPdbe | rs121918593 |
| MSV3d | rs121918593 |
| GWAS Ctlg | rs121918593 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs121918593(A;A) |
| Alt | rs121918593(A;A) |
| Reference | Rs121918593(G;G) |
| 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.38990633G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013837.3, RCV000119698.1, |
rs121918593, aka p.Gly2434Arg or p.G2434R, is a SNP in the RYR1 gene leading to susceptibility to malignant hyperthermia when heterozygous.
[PMID 9030597] Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle.
