rs28933397
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (C;T) | 3 | susceptibility to malignant hyperthermia |
| Make rs28933397(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 38500654 |
| Gene | RYR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28933397 |
| dbSNP (classic) | rs28933397 |
| ClinGen | rs28933397 |
| ebi | rs28933397 |
| HLI | rs28933397 |
| Exac | rs28933397 |
| Gnomad | rs28933397 |
| Varsome | rs28933397 |
| LitVar | rs28933397 |
| Map | rs28933397 |
| PheGenI | rs28933397 |
| Biobank | rs28933397 |
| 1000 genomes | rs28933397 |
| hgdp | rs28933397 |
| ensembl | rs28933397 |
| geneview | rs28933397 |
| scholar | rs28933397 |
| rs28933397 | |
| pharmgkb | rs28933397 |
| gwascentral | rs28933397 |
| openSNP | rs28933397 |
| 23andMe | rs28933397 |
| SNPshot | rs28933397 |
| SNPdbe | rs28933397 |
| MSV3d | rs28933397 |
| GWAS Ctlg | rs28933397 |
| Max Magnitude | 3 |
23andMe name: i6017665
| ClinVar | |
|---|---|
| Risk | rs28933397(T;T) |
| Alt | rs28933397(T;T) |
| Reference | Rs28933397(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.38991294C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013838.3, RCV000119711.1, |
[PMID 16835904] Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
[PMID 16958617
] Malignant hyperthermia mutation sites in the Leu2442-Pro2477 (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable area.
