rs771578775
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a coenzyme Q10 deficiency mutation |
| (T;T) | 5.6 | Coenzyme Q10 Deficiency; severity varies |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 226982996 |
| Gene | ADCK3, COQ8A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs771578775 |
| dbSNP (classic) | rs771578775 |
| ClinGen | rs771578775 |
| ebi | rs771578775 |
| HLI | rs771578775 |
| Exac | rs771578775 |
| Gnomad | rs771578775 |
| Varsome | rs771578775 |
| LitVar | rs771578775 |
| Map | rs771578775 |
| PheGenI | rs771578775 |
| Biobank | rs771578775 |
| 1000 genomes | rs771578775 |
| hgdp | rs771578775 |
| ensembl | rs771578775 |
| geneview | rs771578775 |
| scholar | rs771578775 |
| rs771578775 | |
| pharmgkb | rs771578775 |
| gwascentral | rs771578775 |
| openSNP | rs771578775 |
| 23andMe | rs771578775 |
| SNPshot | rs771578775 |
| SNPdbe | rs771578775 |
| MSV3d | rs771578775 |
| GWAS Ctlg | rs771578775 |
| Max Magnitude | 5.6 |
| ClinVar | |
|---|---|
| Risk | Rs771578775(T;T) |
| Alt | Rs771578775(T;T) |
| Reference | Rs771578775(C;C) |
| Significance | Pathogenic |
| Disease | Coenzyme Q10 deficiency not provided |
| Variation | info |
| Gene | COQ8A ADCK3 |
| CLNDBN | Coenzyme Q10 deficiency, primary, 4 not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.227170697C>T |
| CLNSRC | |
| CLNACC | RCV000201953.1, RCV000316605.2, RCV000416404.1, |
