rs372635387
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs372635387(C;T) |
| Make rs372635387(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 4903027 |
| Gene | CHRNE, C17orf107 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs372635387 |
| dbSNP (classic) | rs372635387 |
| ClinGen | rs372635387 |
| ebi | rs372635387 |
| HLI | rs372635387 |
| Exac | rs372635387 |
| Gnomad | rs372635387 |
| Varsome | rs372635387 |
| LitVar | rs372635387 |
| Map | rs372635387 |
| PheGenI | rs372635387 |
| Biobank | rs372635387 |
| 1000 genomes | rs372635387 |
| hgdp | rs372635387 |
| ensembl | rs372635387 |
| geneview | rs372635387 |
| scholar | rs372635387 |
| rs372635387 | |
| pharmgkb | rs372635387 |
| gwascentral | rs372635387 |
| openSNP | rs372635387 |
| 23andMe | rs372635387 |
| SNPshot | rs372635387 |
| SNPdbe | rs372635387 |
| MSV3d | rs372635387 |
| GWAS Ctlg | rs372635387 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs372635387(T;T) |
| Alt | rs372635387(T;T) |
| Reference | Rs372635387(C;C) |
| Significance | Pathogenic |
| Disease | Myasthenic syndrome |
| Variation | info |
| Gene | C17orf107 CHRNE |
| CLNDBN | Myasthenic syndrome, congenital, 4b, fast-channel |
| Reversed | 0 |
| HGVS | NC_000017.10:g.4806322C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000020027.28, |
