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, | 
