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: rs1064792887
rs1064792887 		1.000 22 50527210 frameshift variant G/- delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2002 2002
dbSNP: rs1064792888
rs1064792888 		1.000 22 50526720 frameshift variant G/- delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2005 2005
dbSNP: rs1064792889
rs1064792889 		1.000 22 50525908 frameshift variant C/- delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs1064792890
rs1064792890 		1.000 22 50525873 frameshift variant CTGAGCGCGGGGCCGTCCCG/- delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2005 2005
dbSNP: rs1064792891
rs1064792891 		1.000 22 50525819 inframe deletion AATGGC/- del
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs1064792892
rs1064792892 		1.000 22 50526386 frameshift variant AGGGCCGAGC/TT delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs1178421926
rs1178421926 		1.000 22 50526695 missense variant A/G snv
CUI: C0872218
Disease: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME 		0.010 1.000 1 2013 2013
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: rs121913039
rs121913039 		1.000 22 50527612 missense variant C/T snv 3.3E-04 2.7E-04
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2005 2005
dbSNP: rs121913042
rs121913042 		1.000 22 50526650 missense variant A/G snv 7.0E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2005 2005
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: rs1556486029
rs1556486029 		1.000 22 50525867 frameshift variant -/G delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 1999 1999
dbSNP: rs1556486467
rs1556486467 		1.000 22 50526089 frameshift variant -/A delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2004 2004
dbSNP: rs201685922
rs201685922 		1.000 22 50526479 splice region variant CGGG/- delins 1.4E-02 1.3E-02
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2000 2000
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: rs764275775
rs764275775 		1.000 22 50525859 missense variant C/A;G snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011