rs730880033
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs730880033(C;C) |
| Make rs730880033(C;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 22 |
| Position | 23767463 |
| Gene | CHCHD10, LOC107985577 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs730880033 |
| dbSNP (classic) | rs730880033 |
| ClinGen | rs730880033 |
| ebi | rs730880033 |
| HLI | rs730880033 |
| Exac | rs730880033 |
| Gnomad | rs730880033 |
| Varsome | rs730880033 |
| LitVar | rs730880033 |
| Map | rs730880033 |
| PheGenI | rs730880033 |
| Biobank | rs730880033 |
| 1000 genomes | rs730880033 |
| hgdp | rs730880033 |
| ensembl | rs730880033 |
| geneview | rs730880033 |
| scholar | rs730880033 |
| rs730880033 | |
| pharmgkb | rs730880033 |
| gwascentral | rs730880033 |
| openSNP | rs730880033 |
| 23andMe | rs730880033 |
| SNPshot | rs730880033 |
| SNPdbe | rs730880033 |
| MSV3d | rs730880033 |
| GWAS Ctlg | rs730880033 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs730880033(C;C) |
| Alt | rs730880033(C;C) |
| Reference | Rs730880033(G;G) |
| Significance | Pathogenic |
| Disease | Myopathy |
| Variation | info |
| Gene | CHCHD10 |
| CLNDBN | Myopathy, isolated mitochondrial, autosomal dominant |
| Reversed | 1 |
| HGVS | NC_000022.10:g.24109650C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000157071.4, RCV000192234.1, |
