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rs121964990(T;T)

From SNPedia
(Redirected from I5003700(T;T))
Dihydrolipooamide Dehydrogenase Deficiency
Is agenotype
ofrs121964990
GeneDLD
Chromosome7
Position107,915,506
mentionedby
Magnitude5
ReputeBad
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a dihydrolipoamide dehydrogenase deficiency mutation (also known as Maple Syrup Urine disease type III)
(T;T) 5 Dihydrolipooamide Dehydrogenase Deficiency