rs80338782
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80338782(A;A) |
| Make rs80338782(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 201060816 |
| Gene | CACNA1S |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338782 |
| dbSNP (classic) | rs80338782 |
| ClinGen | rs80338782 |
| ebi | rs80338782 |
| HLI | rs80338782 |
| Exac | rs80338782 |
| Gnomad | rs80338782 |
| Varsome | rs80338782 |
| LitVar | rs80338782 |
| Map | rs80338782 |
| PheGenI | rs80338782 |
| Biobank | rs80338782 |
| 1000 genomes | rs80338782 |
| hgdp | rs80338782 |
| ensembl | rs80338782 |
| geneview | rs80338782 |
| scholar | rs80338782 |
| rs80338782 | |
| pharmgkb | rs80338782 |
| gwascentral | rs80338782 |
| openSNP | rs80338782 |
| 23andMe | rs80338782 |
| SNPshot | rs80338782 |
| SNPdbe | rs80338782 |
| MSV3d | rs80338782 |
| GWAS Ctlg | rs80338782 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338782(A;A) rs80338782(G;G) rs80338782(T;T) |
| Alt | rs80338782(A;A) rs80338782(G;G) rs80338782(T;T) |
| Reference | Rs80338782(C;C) |
| Significance | Untested |
| Disease | Hypokalaemic periodic paralysis not provided |
| Variation | info |
| Gene | CACNA1S |
| CLNDBN | Hypokalaemic periodic paralysis not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.201029944G>A; NC_000001.10:g.201029944G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000148445.1, RCV000144372.1, |
[PMID 9199552
] Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.
[PMID 10590402] Genetics and pathogenesis of malignant hyperthermia.
[PMID 20431982] A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene.
