Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs759452074
rs759452074
0.925 0.200 22 50523835 missense variant C/A;T snv 8.0E-06; 3.2E-05
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.700 1.000 8 1999 2015
dbSNP: rs759452074
rs759452074
0.925 0.200 22 50523835 missense variant C/A;T snv 8.0E-06; 3.2E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 1 2016 2016