rs762616589
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs762616589(A;A) |
| Make rs762616589(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 4 |
| Position | 83269867 |
| Gene | COQ2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs762616589 |
| dbSNP (classic) | rs762616589 |
| ClinGen | rs762616589 |
| ebi | rs762616589 |
| HLI | rs762616589 |
| Exac | rs762616589 |
| Gnomad | rs762616589 |
| Varsome | rs762616589 |
| LitVar | rs762616589 |
| Map | rs762616589 |
| PheGenI | rs762616589 |
| Biobank | rs762616589 |
| 1000 genomes | rs762616589 |
| hgdp | rs762616589 |
| ensembl | rs762616589 |
| geneview | rs762616589 |
| scholar | rs762616589 |
| rs762616589 | |
| pharmgkb | rs762616589 |
| gwascentral | rs762616589 |
| openSNP | rs762616589 |
| 23andMe | rs762616589 |
| SNPshot | rs762616589 |
| SNPdbe | rs762616589 |
| MSV3d | rs762616589 |
| GWAS Ctlg | rs762616589 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs762616589(A;A) rs762616589(C;C) |
| Alt | rs762616589(A;A) rs762616589(C;C) |
| Reference | Rs762616589(G;G) |
| Significance | Pathogenic |
| Disease | Coenzyme Q10 deficiency |
| Variation | info |
| Gene | COQ2 |
| CLNDBN | Coenzyme Q10 deficiency, primary |
| Reversed | 0 |
| HGVS | NC_000004.11:g.84191020G>A |
| CLNSRC | |
| CLNACC | RCV000416400.1, |
