rs281865506(AT;AT)
From SNPedia
TK-2 related mitochondrial depletion syndrome (myopathic) |
Is a | genotype |
of | rs281865506 |
Gene | TK2 |
Chromosome | 16 |
Position | 66,531,418 |
mentioned | by |
Magnitude | 5 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;AT) | 3 | Carrier of a mitochondrial depletion syndrome mutation |
(AT;AT) | 5 | TK-2 related mitochondrial depletion syndrome (myopathic) |
see rs281865506