Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267606884
rs267606884
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 1.000 0.080 MT 7275 missense variant T/C snv 0.800 1.000 2 2006 2009
dbSNP: rs281865417
rs281865417
1 1.000 0.080 MT 6277 missense variant G/A snv 0.800 1.000 2 2006 2009
dbSNP: rs199474826
rs199474826
ATP6 ; ATP8 ; COX2 ; COX3
1 1.000 0.080 MT 8009 missense variant G/A snv 0.800 0