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: rs786204770
rs786204770 		1.000 9 128323100 missense variant T/C snv
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.800 1.000 2 2015 2016
dbSNP: rs758522459
rs758522459 		0.925 9 128323147 missense variant G/C snv 4.3E-05 7.0E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 2005 2017
dbSNP: rs758522459
rs758522459 		0.925 9 128323147 missense variant G/C snv 4.3E-05 7.0E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 2005 2017
dbSNP: rs1554796655
rs1554796655 		1.000 9 128322923 frameshift variant -/G delins
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 1.000 2 2015 2015
dbSNP: rs767839639
rs767839639 		1.000 9 128322930 splice donor variant C/A;G snv 4.5E-06; 5.4E-05
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 1.000 1 2015 2015
dbSNP: rs758522459
rs758522459 		0.925 9 128323147 missense variant G/C snv 4.3E-05 7.0E-05
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 0
dbSNP: rs766317663
rs766317663 		1.000 9 128323135 missense variant C/T snv 1.3E-05 7.0E-06
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 0
dbSNP: rs886040973
rs886040973 		1.000 9 128323142 missense variant GC/AA mnv
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 0