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rs137973334(T;T)

From SNPedia

Lipoyltransferase 1 deficiency
Is agenotype
ofrs137973334
GeneMITD1, LIPT1
Chromosome2
Position99,162,249
mentionedby
Magnitude9
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Unaffected carrier of a Lipoyltransferase mutation (severe)
(T;T) 9 Lipoyltransferase 1 deficiency

see discussion at rs137973334