SCO1, synthesis of cytochrome C oxidase 1, 6341

N. diseases: 71; N. variants: 5
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: rs104894630
rs104894630
0.882 0.120 17 10692805 missense variant G/A snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 4 2000 2009
dbSNP: rs587777220
rs587777220
0.882 0.120 17 10692932 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 2013 2013
dbSNP: rs2520166
rs2520166
17 10698673 intron variant T/C snv 5.6E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs587776629
rs587776629
1.000 0.080 17 10695740 coding sequence variant CT/- delins
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587777220
rs587777220
0.882 0.120 17 10692932 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
Cardiovascular Diseases 0.020 0.500 2 2009 2013
dbSNP: rs587777220
rs587777220
0.882 0.120 17 10692932 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0023895
Disease: Liver diseases
Liver diseases
Digestive System Diseases 0.020 0.500 2 2009 2013
dbSNP: rs587777220
rs587777220
0.882 0.120 17 10692932 missense variant C/T snv 1.2E-05 7.0E-06
Hypertrophic obstructive cardiomyopathy
Cardiovascular Diseases 0.020 0.500 2 2009 2013
dbSNP: rs104894630
rs104894630
0.882 0.120 17 10692805 missense variant G/A snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs104894630
rs104894630
0.882 0.120 17 10692805 missense variant G/A snv
Hypertrophic obstructive cardiomyopathy
Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs104894630
rs104894630
0.882 0.120 17 10692805 missense variant G/A snv
CUI: C0023895
Disease: Liver diseases
Liver diseases
Digestive System Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs760292725
rs760292725
17 10681145 missense variant T/C snv
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
Nervous System Diseases 0.010 1.000 1 2013 2013