rs578189699(C;T)
From SNPedia
| Carrier of a coenzyme Q10 deficiency mutation |
| Is a | genotype |
| of | rs578189699 |
| Gene | ADCK3, COQ8A |
| Chromosome | 1 |
| Position | 226,984,901 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| 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 |
Unaffected in absence of a second mutation; see coenzyme Q10 deficiency
