rs756877019
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs756877019(C;C) |
| Make rs756877019(C;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 110800760 |
| Gene | MUSK |
| is a | snp |
| is | mentioned by |
| dbSNP | rs756877019 |
| dbSNP (classic) | rs756877019 |
| ClinGen | rs756877019 |
| ebi | rs756877019 |
| HLI | rs756877019 |
| Exac | rs756877019 |
| Gnomad | rs756877019 |
| Varsome | rs756877019 |
| LitVar | rs756877019 |
| Map | rs756877019 |
| PheGenI | rs756877019 |
| Biobank | rs756877019 |
| 1000 genomes | rs756877019 |
| hgdp | rs756877019 |
| ensembl | rs756877019 |
| geneview | rs756877019 |
| scholar | rs756877019 |
| rs756877019 | |
| pharmgkb | rs756877019 |
| gwascentral | rs756877019 |
| openSNP | rs756877019 |
| 23andMe | rs756877019 |
| SNPshot | rs756877019 |
| SNPdbe | rs756877019 |
| MSV3d | rs756877019 |
| GWAS Ctlg | rs756877019 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs756877019(C;C) |
| Alt | rs756877019(C;C) |
| Reference | Rs756877019(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Myasthenic syndrome |
| Variation | info |
| Gene | MUSK |
| CLNDBN | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency |
| Reversed | 0 |
| HGVS | NC_000009.11:g.113563040G>C |
| CLNSRC | |
| CLNACC | RCV000202616.1, |
