rs145955590
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs145955590(A;A) |
| Make rs145955590(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 2 |
| Position | 232534087 |
| Gene | CHRND |
| is a | snp |
| is | mentioned by |
| dbSNP | rs145955590 |
| dbSNP (classic) | rs145955590 |
| ClinGen | rs145955590 |
| ebi | rs145955590 |
| HLI | rs145955590 |
| Exac | rs145955590 |
| Gnomad | rs145955590 |
| Varsome | rs145955590 |
| LitVar | rs145955590 |
| Map | rs145955590 |
| PheGenI | rs145955590 |
| Biobank | rs145955590 |
| 1000 genomes | rs145955590 |
| hgdp | rs145955590 |
| ensembl | rs145955590 |
| geneview | rs145955590 |
| scholar | rs145955590 |
| rs145955590 | |
| pharmgkb | rs145955590 |
| gwascentral | rs145955590 |
| openSNP | rs145955590 |
| 23andMe | rs145955590 |
| SNPshot | rs145955590 |
| SNPdbe | rs145955590 |
| MSV3d | rs145955590 |
| GWAS Ctlg | rs145955590 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs145955590(A;A) rs145955590(C;C) |
| Alt | rs145955590(A;A) rs145955590(C;C) |
| Reference | Rs145955590(G;G) |
| Significance | Pathogenic |
| Disease | Myasthenic syndrome |
| Variation | info |
| Gene | CHRND |
| CLNDBN | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency |
| Reversed | 0 |
| HGVS | NC_000002.11:g.233398797G>A |
| CLNSRC | Leiden Muscular Dystrophy pages (CHRND) OMIM Allelic Variant |
| CLNACC | RCV000170317.4, |
