rs773526895
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (D;D) | 0 | common genotype |
| Make rs773526895(-;C) |
| Make rs773526895(C;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 17 |
| Position | 4898864 |
| Gene | CHRNE, C17orf107 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs773526895 |
| dbSNP (classic) | rs773526895 |
| ClinGen | rs773526895 |
| ebi | rs773526895 |
| HLI | rs773526895 |
| Exac | rs773526895 |
| Gnomad | rs773526895 |
| Varsome | rs773526895 |
| LitVar | rs773526895 |
| Map | rs773526895 |
| PheGenI | rs773526895 |
| Biobank | rs773526895 |
| 1000 genomes | rs773526895 |
| hgdp | rs773526895 |
| ensembl | rs773526895 |
| geneview | rs773526895 |
| scholar | rs773526895 |
| rs773526895 | |
| pharmgkb | rs773526895 |
| gwascentral | rs773526895 |
| openSNP | rs773526895 |
| 23andMe | rs773526895 |
| SNPshot | rs773526895 |
| SNPdbe | rs773526895 |
| MSV3d | rs773526895 |
| GWAS Ctlg | rs773526895 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs773526895(C;C) |
| Alt | rs773526895(C;C) |
| Reference | Rs773526895(-;-) |
| Significance | Pathogenic |
| Disease | Myasthenic syndrome Congenital myasthenic syndrome not provided |
| Variation | info |
| Gene | C17orf107 CHRNE |
| CLNDBN | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Congenital myasthenic syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.4802160dupC |
| CLNSRC | CHRNE homepage - Leiden Muscular Dystrophy pages OMIM Allelic Variant |
| CLNACC | RCV000020024.28, RCV000235035.1, RCV000479377.1, |
