rs199476083
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs199476083(A;A) |
| Make rs199476083(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 110800746 |
| Gene | MUSK |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199476083 |
| dbSNP (classic) | rs199476083 |
| ClinGen | rs199476083 |
| ebi | rs199476083 |
| HLI | rs199476083 |
| Exac | rs199476083 |
| Gnomad | rs199476083 |
| Varsome | rs199476083 |
| LitVar | rs199476083 |
| Map | rs199476083 |
| PheGenI | rs199476083 |
| Biobank | rs199476083 |
| 1000 genomes | rs199476083 |
| hgdp | rs199476083 |
| ensembl | rs199476083 |
| geneview | rs199476083 |
| scholar | rs199476083 |
| rs199476083 | |
| pharmgkb | rs199476083 |
| gwascentral | rs199476083 |
| openSNP | rs199476083 |
| 23andMe | rs199476083 |
| SNPshot | rs199476083 |
| SNPdbe | rs199476083 |
| MSV3d | rs199476083 |
| GWAS Ctlg | rs199476083 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199476083(A;A) |
| Alt | rs199476083(A;A) |
| Reference | Rs199476083(G;G) |
| Significance | Pathogenic |
| Disease | Myasthenic syndrome not specified |
| Variation | info |
| Gene | MUSK |
| CLNDBN | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency not specified |
| Reversed | 0 |
| HGVS | NC_000009.11:g.113563026G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008722.3, RCV000292405.1, |
