rs121909514
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121909514(G;T) |
| Make rs121909514(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 4901932 |
| Gene | CHRNE, C17orf107 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121909514 |
| dbSNP (classic) | rs121909514 |
| ClinGen | rs121909514 |
| ebi | rs121909514 |
| HLI | rs121909514 |
| Exac | rs121909514 |
| Gnomad | rs121909514 |
| Varsome | rs121909514 |
| LitVar | rs121909514 |
| Map | rs121909514 |
| PheGenI | rs121909514 |
| Biobank | rs121909514 |
| 1000 genomes | rs121909514 |
| hgdp | rs121909514 |
| ensembl | rs121909514 |
| geneview | rs121909514 |
| scholar | rs121909514 |
| rs121909514 | |
| pharmgkb | rs121909514 |
| gwascentral | rs121909514 |
| openSNP | rs121909514 |
| 23andMe | rs121909514 |
| SNPshot | rs121909514 |
| SNPdbe | rs121909514 |
| MSV3d | rs121909514 |
| GWAS Ctlg | rs121909514 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121909514(T;T) |
| Alt | rs121909514(T;T) |
| Reference | Rs121909514(G;G) |
| 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.4805227C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000020013.28, |
