SCO2, synthesis of cytochrome C oxidase 2, 9997

N. diseases: 294; N. variants: 72
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: rs12148
rs12148 		22 50523779 synonymous variant T/A;G snv 0.64
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs12148
rs12148 		22 50523779 synonymous variant T/A;G snv 0.64
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs131801
rs131801 		22 50528205 non coding transcript exon variant G/A;T snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016
dbSNP: rs131801
rs131801 		22 50528205 non coding transcript exon variant G/A;T snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs131804
rs131804 		22 50526433 missense variant G/A snv 0.61 0.51
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2018 2018
dbSNP: rs131808
rs131808 		22 50524928 intron variant G/C snv 0.63
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs131808
rs131808 		22 50524928 intron variant G/C snv 0.63
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs140523
rs140523 		22 50524353 missense variant C/A;G;T snv 1.7E-05; 0.64; 1.7E-05
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs140523
rs140523 		22 50524353 missense variant C/A;G;T snv 1.7E-05; 0.64; 1.7E-05
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2782
rs2782 		22 50523425 3 prime UTR variant T/C snv 0.64 0.63
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2782
rs2782 		22 50523425 3 prime UTR variant T/C snv 0.64 0.63
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs749838192
rs749838192 		22 50524395 frameshift variant -/TGAGTCACTGCTGCATGCT ins 5.8E-04; 4.2E-06 8.9E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2010 2010
dbSNP: rs74315511
rs74315511 		0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 8 1999 2015
dbSNP: rs759452074
rs759452074 		0.925 0.200 22 50523835 missense variant C/A;T snv 8.0E-06; 3.2E-05
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 8 1999 2015
dbSNP: rs74315511
rs74315511 		0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		Eye Diseases 0.800 1.000 3 2013 2015
dbSNP: rs11479
rs11479 		0.925 0.080 22 50525807 stop gained G/A;C;T snv 0.13; 1.3E-05; 4.3E-06
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs11479
rs11479 		0.925 0.080 22 50525807 stop gained G/A;C;T snv 0.13; 1.3E-05; 4.3E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2007 2007
dbSNP: rs150742660
rs150742660 		0.925 0.080 22 50523735 missense variant A/G snv 8.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 < 0.001 1 2007 2007
dbSNP: rs150742660
rs150742660 		0.925 0.080 22 50523735 missense variant A/G snv 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2007 2007
dbSNP: rs150742660
rs150742660 		0.925 0.080 22 50523735 missense variant A/G snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs74315511
rs74315511 		0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C0038450
Disease: Stridor
Stridor 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2010 2010
dbSNP: rs74315511
rs74315511 		0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs74315511
rs74315511 		0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2001 2001
dbSNP: rs759452074
rs759452074 		0.925 0.200 22 50523835 missense variant C/A;T snv 8.0E-06; 3.2E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1556488264
rs1556488264 		0.925 0.120 22 50527165 inframe deletion AGC/- delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0