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rs201754030(C;C)

From SNPedia

common in clinvar
Is agenotype
ofrs201754030
GeneAVIL, TSFM
Chromosome12
Position57,796,461
mentionedby
Magnitude0
ReputeGood
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a combined oxidative phosphorylation deficiency-3 mutation
(T;T) 8.1 Combined oxidative phosphorylation deficiency-3 likely