rs28937598, SCO2;NCAPH2

N. diseases: 1
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 1.000 0.200 22 50523901 missense variant G/A snv 1.2E-05 7.0E-06 0.800 1.000 0 1999 2015