rs758522459
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs758522459(C;C) |
| Make rs758522459(C;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 9 |
| Position | 128323147 |
| Gene | COQ4, TRUB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs758522459 |
| dbSNP (classic) | rs758522459 |
| ClinGen | rs758522459 |
| ebi | rs758522459 |
| HLI | rs758522459 |
| Exac | rs758522459 |
| Gnomad | rs758522459 |
| Varsome | rs758522459 |
| LitVar | rs758522459 |
| Map | rs758522459 |
| PheGenI | rs758522459 |
| Biobank | rs758522459 |
| 1000 genomes | rs758522459 |
| hgdp | rs758522459 |
| ensembl | rs758522459 |
| geneview | rs758522459 |
| scholar | rs758522459 |
| rs758522459 | |
| pharmgkb | rs758522459 |
| gwascentral | rs758522459 |
| openSNP | rs758522459 |
| 23andMe | rs758522459 |
| SNPshot | rs758522459 |
| SNPdbe | rs758522459 |
| MSV3d | rs758522459 |
| GWAS Ctlg | rs758522459 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs758522459(C;C) |
| Alt | rs758522459(C;C) |
| Reference | Rs758522459(G;G) |
| Significance | Pathogenic |
| Disease | Coenzyme Q10 deficiency |
| Variation | info |
| Gene | COQ4 TRUB2 |
| CLNDBN | Coenzyme Q10 deficiency, primary, 7 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.131085426G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000258061.2, |
