rs118192167
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (A;G) | 3 | susceptibility to malignant hyperthermia |
| Make rs118192167(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 38580004 |
| Gene | RYR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118192167 |
| dbSNP (classic) | rs118192167 |
| ClinGen | rs118192167 |
| ebi | rs118192167 |
| HLI | rs118192167 |
| Exac | rs118192167 |
| Gnomad | rs118192167 |
| Varsome | rs118192167 |
| LitVar | rs118192167 |
| Map | rs118192167 |
| PheGenI | rs118192167 |
| Biobank | rs118192167 |
| 1000 genomes | rs118192167 |
| hgdp | rs118192167 |
| ensembl | rs118192167 |
| geneview | rs118192167 |
| scholar | rs118192167 |
| rs118192167 | |
| pharmgkb | rs118192167 |
| gwascentral | rs118192167 |
| openSNP | rs118192167 |
| 23andMe | rs118192167 |
| SNPshot | rs118192167 |
| SNPdbe | rs118192167 |
| MSV3d | rs118192167 |
| GWAS Ctlg | rs118192167 |
| Max Magnitude | 3 |
aka c.14387A>G (p.Tyr4796Cys or Y4796C)
23andMe name: i5000022
| ClinVar | |
|---|---|
| Risk | rs118192167(G;G) |
| Alt | rs118192167(G;G) |
| Reference | Rs118192167(A;A) |
| Significance | Other |
| Disease | Central core disease Malignant hyperthermia not provided |
| Variation | info |
| Gene | RYR1 |
| CLNDBN | Central core disease Malignant hyperthermia, susceptibility to, 1 not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.39070644A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013848.18, RCV000013849.2, RCV000119509.1, |
[PMID 11063719] An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
[PMID 17204937] Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.
