rs559933584
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs559933584(A;A) |
| Make rs559933584(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 11 |
| Position | 47441875 |
| Gene | RAPSN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs559933584 |
| dbSNP (classic) | rs559933584 |
| ClinGen | rs559933584 |
| ebi | rs559933584 |
| HLI | rs559933584 |
| Exac | rs559933584 |
| Gnomad | rs559933584 |
| Varsome | rs559933584 |
| LitVar | rs559933584 |
| Map | rs559933584 |
| PheGenI | rs559933584 |
| Biobank | rs559933584 |
| 1000 genomes | rs559933584 |
| hgdp | rs559933584 |
| ensembl | rs559933584 |
| geneview | rs559933584 |
| scholar | rs559933584 |
| rs559933584 | |
| pharmgkb | rs559933584 |
| gwascentral | rs559933584 |
| openSNP | rs559933584 |
| 23andMe | rs559933584 |
| SNPshot | rs559933584 |
| SNPdbe | rs559933584 |
| MSV3d | rs559933584 |
| GWAS Ctlg | rs559933584 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs559933584(A;A) |
| Alt | rs559933584(A;A) |
| Reference | Rs559933584(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Myasthenic syndrome |
| Variation | info |
| Gene | RAPSN |
| CLNDBN | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency |
| Reversed | 0 |
| HGVS | NC_000011.9:g.47463427G>A |
| CLNSRC | |
| CLNACC | RCV000178236.1, |
