rs879255564
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AG;AG) | 0 | common in clinvar |
| Make rs879255564(-;-) |
| Make rs879255564(-;AG) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 232530139 |
| Gene | CHRND |
| is a | snp |
| is | mentioned by |
| dbSNP | rs879255564 |
| dbSNP (classic) | rs879255564 |
| ClinGen | rs879255564 |
| ebi | rs879255564 |
| HLI | rs879255564 |
| Exac | rs879255564 |
| Gnomad | rs879255564 |
| Varsome | rs879255564 |
| LitVar | rs879255564 |
| Map | rs879255564 |
| PheGenI | rs879255564 |
| Biobank | rs879255564 |
| 1000 genomes | rs879255564 |
| hgdp | rs879255564 |
| ensembl | rs879255564 |
| geneview | rs879255564 |
| scholar | rs879255564 |
| rs879255564 | |
| pharmgkb | rs879255564 |
| gwascentral | rs879255564 |
| openSNP | rs879255564 |
| 23andMe | rs879255564 |
| SNPshot | rs879255564 |
| SNPdbe | rs879255564 |
| MSV3d | rs879255564 |
| GWAS Ctlg | rs879255564 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs879255564(-;-) |
| Alt | rs879255564(-;-) |
| Reference | Rs879255564(AG;AG) |
| Significance | Pathogenic |
| Disease | Myasthenic syndrome |
| Variation | info |
| Gene | CHRND |
| CLNDBN | Myasthenic syndrome, congenital, 3b, fast-channel |
| Reversed | 0 |
| HGVS | NC_000002.11:g.233394849_233394850delAG |
| CLNSRC | Leiden Muscular Dystrophy pages (CHRND) OMIM Allelic Variant |
| CLNACC | RCV000020035.28, |
