Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 ×
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: rs1057519353
rs1057519353 		1.000 10 26723857 frameshift variant -/T ins
CUI: C3553354
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2
COENZYME Q10 DEFICIENCY, PRIMARY, 2 		0.700 1.000 1 2012 2012
dbSNP: rs1057519354
rs1057519354 		1.000 10 26746333 missense variant A/C snv
CUI: C3553354
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2
COENZYME Q10 DEFICIENCY, PRIMARY, 2 		0.700 1.000 1 2012 2012
dbSNP: rs119463988
rs119463988 		1.000 10 26735477 missense variant T/A;G snv 4.0E-06
CUI: C3553354
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2
COENZYME Q10 DEFICIENCY, PRIMARY, 2 		0.700 1.000 1 2007 2007