rs74315511, NCAPH2;SCO2

N. diseases: 4
Source: CLINVAR ×
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
7 0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04 0.800 1.000 0 1999 2015
MYOPIA 6 (disorder)
CUI: C1837148
Disease: MYOPIA 6 (disorder)
2 0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04 0.800 1.000 0 2013 2015
Seizures
CUI: C0036572
Disease: Seizures
417 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