rs786204773
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs786204773(A;T) |
| Make rs786204773(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 17 |
| Position | 4899386 |
| Gene | CHRNE, C17orf107 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786204773 |
| dbSNP (classic) | rs786204773 |
| ClinGen | rs786204773 |
| ebi | rs786204773 |
| HLI | rs786204773 |
| Exac | rs786204773 |
| Gnomad | rs786204773 |
| Varsome | rs786204773 |
| LitVar | rs786204773 |
| Map | rs786204773 |
| PheGenI | rs786204773 |
| Biobank | rs786204773 |
| 1000 genomes | rs786204773 |
| hgdp | rs786204773 |
| ensembl | rs786204773 |
| geneview | rs786204773 |
| scholar | rs786204773 |
| rs786204773 | |
| pharmgkb | rs786204773 |
| gwascentral | rs786204773 |
| openSNP | rs786204773 |
| 23andMe | rs786204773 |
| SNPshot | rs786204773 |
| SNPdbe | rs786204773 |
| MSV3d | rs786204773 |
| GWAS Ctlg | rs786204773 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs786204773(T;T) |
| Alt | rs786204773(T;T) |
| Reference | Rs786204773(A;A) |
| Significance | Pathogenic |
| Disease | Myasthenic syndrome |
| Variation | info |
| Gene | C17orf107 CHRNE |
| CLNDBN | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency |
| Reversed | 1 |
| HGVS | NC_000017.10:g.4802681T>A |
| CLNSRC | |
| CLNACC | RCV000169653.1, |
