rs786204771
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 5.6 | Coenzyme Q10 Deficiency; severity varies |
| (-;CCA) | 3 | Carrier of a coenzyme Q10 deficiency mutation |
| (CCA;CCA) | 0 | common in clinvar |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 128332271 |
| Gene | COQ4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786204771 |
| dbSNP (classic) | rs786204771 |
| ClinGen | rs786204771 |
| ebi | rs786204771 |
| HLI | rs786204771 |
| Exac | rs786204771 |
| Gnomad | rs786204771 |
| Varsome | rs786204771 |
| LitVar | rs786204771 |
| Map | rs786204771 |
| PheGenI | rs786204771 |
| Biobank | rs786204771 |
| 1000 genomes | rs786204771 |
| hgdp | rs786204771 |
| ensembl | rs786204771 |
| geneview | rs786204771 |
| scholar | rs786204771 |
| rs786204771 | |
| pharmgkb | rs786204771 |
| gwascentral | rs786204771 |
| openSNP | rs786204771 |
| 23andMe | rs786204771 |
| SNPshot | rs786204771 |
| SNPdbe | rs786204771 |
| MSV3d | rs786204771 |
| GWAS Ctlg | rs786204771 |
| Max Magnitude | 5.6 |
| ClinVar | |
|---|---|
| Risk | Rs786204771(-;-) |
| Alt | Rs786204771(-;-) |
| Reference | Rs786204771(CCA;CCA) |
| Significance | Pathogenic |
| Disease | Coenzyme Q10 deficiency |
| Variation | info |
| Gene | COQ4 |
| CLNDBN | Coenzyme Q10 deficiency, primary, 7 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.131094550_131094552delCCA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000169638.5, |
