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rs142291440(C;C)

From SNPedia
TK-2 related mitochondrial depletion syndrome (myopathic)
Is agenotype
ofrs142291440
GeneTK2
Chromosome16
Position66,536,971
mentionedby
Magnitude5
ReputeBad
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 rs142291440