Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3 ×
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: rs118203955
rs118203955 		1.000 6 107210483 stop gained G/A;C snv 4.0E-06; 8.0E-06
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 1.000 1 2007 2007
dbSNP: rs118203956
rs118203956 		1.000 6 107154674 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 1.000 1 2007 2007
dbSNP: rs782439454
rs782439454 		1.000 6 107154628 frameshift variant CT/- delins 1.2E-05 7.0E-06
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 0