rs587783597
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 6 | DNM2-related intermediate Charcot-Marie-Tooth neuropathy |
| (T;T) | 0 | common in clinvar |
| Make rs587783597(C;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 19 |
| Position | 10823868 |
| Gene | DNM2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587783597 |
| dbSNP (classic) | rs587783597 |
| ClinGen | rs587783597 |
| ebi | rs587783597 |
| HLI | rs587783597 |
| Exac | rs587783597 |
| Gnomad | rs587783597 |
| Varsome | rs587783597 |
| LitVar | rs587783597 |
| Map | rs587783597 |
| PheGenI | rs587783597 |
| Biobank | rs587783597 |
| 1000 genomes | rs587783597 |
| hgdp | rs587783597 |
| ensembl | rs587783597 |
| geneview | rs587783597 |
| scholar | rs587783597 |
| rs587783597 | |
| pharmgkb | rs587783597 |
| gwascentral | rs587783597 |
| openSNP | rs587783597 |
| 23andMe | rs587783597 |
| SNPshot | rs587783597 |
| SNPdbe | rs587783597 |
| MSV3d | rs587783597 |
| GWAS Ctlg | rs587783597 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs587783597(C;C) |
| Alt | rs587783597(C;C) |
| Reference | Rs587783597(T;T) |
| Significance | Pathogenic |
| Disease | Myopathy |
| Variation | info |
| Gene | DNM2 |
| CLNDBN | Myopathy, centronuclear |
| Reversed | 0 |
| HGVS | NC_000019.9:g.10934544T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000145909.1, |
