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: rs28939711
rs28939711
0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2
0.800 1.000 2 2003 2011
dbSNP: rs28939711
rs28939711
0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.710 1.000 2 2004 2016