Have questions? Visit https://www.reddit.com/r/SNPedia

rs201754030(T;T)

From SNPedia
Combined oxidative phosphorylation deficiency-3 likely
Is agenotype
ofrs201754030
GeneTSFM, AVIL
Chromosome12
Position57,796,461
mentionedby
Magnitude8.1
ReputeBad
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

see discussion and links at rs201754030