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: rs142609245
rs142609245 		0.882 0.040 2 201078946 missense variant T/C snv 8.5E-04 1.1E-03
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		Nutritional and Metabolic Diseases 0.700 0