rs762368691
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs762368691(-;C) |
| Make rs762368691(C;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 17 |
| Position | 4902679 |
| Gene | CHRNE, C17orf107 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs762368691 |
| dbSNP (classic) | rs762368691 |
| ClinGen | rs762368691 |
| ebi | rs762368691 |
| HLI | rs762368691 |
| Exac | rs762368691 |
| Gnomad | rs762368691 |
| Varsome | rs762368691 |
| LitVar | rs762368691 |
| Map | rs762368691 |
| PheGenI | rs762368691 |
| Biobank | rs762368691 |
| 1000 genomes | rs762368691 |
| hgdp | rs762368691 |
| ensembl | rs762368691 |
| geneview | rs762368691 |
| scholar | rs762368691 |
| rs762368691 | |
| pharmgkb | rs762368691 |
| gwascentral | rs762368691 |
| openSNP | rs762368691 |
| 23andMe | rs762368691 |
| SNPshot | rs762368691 |
| SNPdbe | rs762368691 |
| MSV3d | rs762368691 |
| GWAS Ctlg | rs762368691 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs762368691(C;C) |
| Alt | rs762368691(C;C) |
| Reference | Rs762368691(-;-) |
| Significance | Pathogenic |
| Disease | Congenital myasthenic syndrome not provided |
| Variation | info |
| Gene | C17orf107 CHRNE |
| CLNDBN | Congenital myasthenic syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.4805975dupC |
| CLNSRC | |
| CLNACC | RCV000235039.1, RCV000487050.1, |
