rs118192175
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (C;T) | 3 | susceptibility to malignant hyperthermia |
| Make rs118192175(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 38494564 |
| Gene | RYR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118192175 |
| dbSNP (classic) | rs118192175 |
| ClinGen | rs118192175 |
| ebi | rs118192175 |
| HLI | rs118192175 |
| Exac | rs118192175 |
| Gnomad | rs118192175 |
| Varsome | rs118192175 |
| LitVar | rs118192175 |
| Map | rs118192175 |
| PheGenI | rs118192175 |
| Biobank | rs118192175 |
| 1000 genomes | rs118192175 |
| hgdp | rs118192175 |
| ensembl | rs118192175 |
| geneview | rs118192175 |
| scholar | rs118192175 |
| rs118192175 | |
| pharmgkb | rs118192175 |
| gwascentral | rs118192175 |
| openSNP | rs118192175 |
| 23andMe | rs118192175 |
| SNPshot | rs118192175 |
| SNPdbe | rs118192175 |
| MSV3d | rs118192175 |
| GWAS Ctlg | rs118192175 |
| Merged from | Rs28933998 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs118192175(T;T) |
| Alt | rs118192175(T;T) |
| Reference | Rs118192175(C;C) |
| Significance | Other |
| Disease | Malignant hyperthermia Central core disease not provided |
| Variation | info |
| Gene | RYR1 |
| CLNDBN | Malignant hyperthermia, susceptibility to, 1 Central core disease not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.38985204C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013840.3, RCV000056223.1, RCV000119653.1, |
rs118192175, aka p.Arg2163Cys or p.R2163C, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.
[PMID 9497245
] Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.
[PMID 12124989] RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.
