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: rs398124308
rs398124308 		0.925 0.120 11 126275000 frameshift variant -/AGTG delins
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs373075574
rs373075574 		1.000 0.040 11 126273068 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs536400690
rs536400690 		1.000 0.040 11 126275327 missense variant G/C snv 2.6E-04 7.0E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		Nutritional and Metabolic Diseases 0.700 0