Source: CURATED

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: 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: 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: rs104894557
rs104894557
COX10
0.925 0.120 17 14206888 missense variant A/G;T snv 8.0E-05
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.700 0
dbSNP: rs387906383
rs387906383
COX10 ; COX10-AS1
1.000 0.120 17 14069607 start lost T/C snv
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV 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