DLD, dihydrolipoamide dehydrogenase, 1738

N. diseases: 190; N. variants: 42
Disease: Mitochondrial abnormalities ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs151191365
rs151191365 		1.000 7 107893213 missense variant A/G;T snv 4.8E-05; 4.0E-06
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		0.010 1.000 1 2007 2007
dbSNP: rs763452636
rs763452636 		1.000 7 107905413 missense variant C/G snv 8.0E-06
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		0.010 1.000 1 2007 2007