rs74315510, NCAPH2;SCO2

N. diseases: 2
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 50524255 stop gained G/A snv 8.4E-05 3.5E-05 0.700 0
MYOPIA 6 (disorder)
CUI: C1837148
Disease: MYOPIA 6 (disorder)
2 0.925 0.240 22 50524255 stop gained G/A snv 8.4E-05 3.5E-05 0.700 0