rs74315511, NCAPH2;SCO2

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
8 0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04 0.800 1.000 8 1999 2015
MYOPIA 6 (disorder)
CUI: C1837148
Disease: MYOPIA 6 (disorder)
6 0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04 0.800 1.000 3 2013 2015
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04 0.700 0
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04 0.010 1.000 1 2001 2001
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04 0.010 1.000 1 2001 2001
Stridor
CUI: C0038450
Disease: Stridor
7 0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04 0.010 1.000 1 2010 2010