rs879253788
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs879253788(-;C) |
| Make rs879253788(C;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 1 |
| Position | 1042140 |
| Gene | AGRN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs879253788 |
| dbSNP (classic) | rs879253788 |
| ClinGen | rs879253788 |
| ebi | rs879253788 |
| HLI | rs879253788 |
| Exac | rs879253788 |
| Gnomad | rs879253788 |
| Varsome | rs879253788 |
| LitVar | rs879253788 |
| Map | rs879253788 |
| PheGenI | rs879253788 |
| Biobank | rs879253788 |
| 1000 genomes | rs879253788 |
| hgdp | rs879253788 |
| ensembl | rs879253788 |
| geneview | rs879253788 |
| scholar | rs879253788 |
| rs879253788 | |
| pharmgkb | rs879253788 |
| gwascentral | rs879253788 |
| openSNP | rs879253788 |
| 23andMe | rs879253788 |
| SNPshot | rs879253788 |
| SNPdbe | rs879253788 |
| MSV3d | rs879253788 |
| GWAS Ctlg | rs879253788 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs879253788(C;C) |
| Alt | rs879253788(C;C) |
| Reference | Rs879253788(-;-) |
| Significance | Pathogenic |
| Disease | Congenital myasthenic syndrome |
| Variation | info |
| Gene | AGRN |
| CLNDBN | Congenital myasthenic syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.977520dupC |
| CLNSRC | |
| CLNACC | RCV000235036.1, |
