Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894630
rs104894630
SCO1
0.882 0.120 17 10692805 missense variant G/A snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.800 1.000 4 2000 2009
dbSNP: rs104894555
rs104894555
COX10
1.000 0.080 17 14102205 missense variant C/A snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.800 1.000 3 2000 2016
dbSNP: rs104894556
rs104894556
COX10
1.000 0.080 17 14159926 missense variant C/G;T snv 1.2E-05
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.800 1.000 3 2000 2016
dbSNP: rs104894557
rs104894557
COX10
0.925 0.120 17 14206888 missense variant A/G;T snv 8.0E-05
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.800 1.000 3 2000 2016
dbSNP: rs104894560
rs104894560
COX10
1.000 0.080 17 14102230 missense variant C/A snv 4.0E-06
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.800 1.000 3 2000 2016
dbSNP: rs587777004
rs587777004
HNRNPU ; COX20
1.000 0.080 1 244842055 missense variant A/C;G snv 4.0E-06
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.800 1.000 3 2013 2018
dbSNP: rs121909602
rs121909602
COX6B1
1.000 0.080 19 35651302 missense variant G/A snv 1.6E-05
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.800 1.000 1 2008 2008
dbSNP: rs199474827
rs199474827
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1.000 0.080 MT 7671 missense variant T/A snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.800 1.000 1 1999 1999
dbSNP: rs773079584
rs773079584
COX10
1.000 0.080 17 14207140 missense variant C/G;T snv 4.0E-06; 4.0E-06; 1.6E-05
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 1.000 3 2000 2016
dbSNP: rs267606883
rs267606883
COX1 ; COX2
0.925 0.080 MT 6328 missense variant C/T snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 1.000 2 2002 2006
dbSNP: rs28461189
rs28461189
ATP8 ; COX1 ; COX2
1.000 0.080 MT 6489 missense variant C/A;G snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 0
dbSNP: rs753048807
rs753048807
COX10
1.000 0.080 17 14192155 missense variant G/A snv 7.0E-06
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 0