rs139161723
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs139161723(A;A) |
| Make rs139161723(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 19 |
| Position | 38440830 |
| Gene | RYR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs139161723 |
| dbSNP (classic) | rs139161723 |
| ClinGen | rs139161723 |
| ebi | rs139161723 |
| HLI | rs139161723 |
| Exac | rs139161723 |
| Gnomad | rs139161723 |
| Varsome | rs139161723 |
| LitVar | rs139161723 |
| Map | rs139161723 |
| PheGenI | rs139161723 |
| Biobank | rs139161723 |
| 1000 genomes | rs139161723 |
| hgdp | rs139161723 |
| ensembl | rs139161723 |
| geneview | rs139161723 |
| scholar | rs139161723 |
| rs139161723 | |
| pharmgkb | rs139161723 |
| gwascentral | rs139161723 |
| openSNP | rs139161723 |
| 23andMe | rs139161723 |
| SNPshot | rs139161723 |
| SNPdbe | rs139161723 |
| MSV3d | rs139161723 |
| GWAS Ctlg | rs139161723 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs139161723(A;A) |
| Alt | rs139161723(A;A) |
| Reference | Rs139161723(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not provided Malignant hyperthermia |
| Variation | info |
| Gene | RYR1 |
| CLNDBN | not provided Malignant hyperthermia, susceptibility to, 1 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.38931470G>A |
| CLNSRC | |
| CLNACC | RCV000119474.1, RCV000148813.1, |
