rs281865497(C;C)
From SNPedia
| TK-2 related mitochondrial depletion syndrome (myopathic) |
| Is a | genotype |
| of | rs281865497 |
| Gene | TK2 |
| Chromosome | 16 |
| Position | 66,513,786 |
| mentioned | by |
| Magnitude | 5 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 5 | TK-2 related mitochondrial depletion syndrome (myopathic) |
| (C;T) | 3 | Carrier of a mitochondrial depletion syndrome mutation |
| (T;T) | 0 | common in clinvar |
see rs281865497
