Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY ×
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: rs376281345
rs376281345 		0.925 0.120 5 53603451 splice acceptor variant G/A snv 8.0E-06 7.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		Nutritional and Metabolic Diseases 0.700 0