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: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
18 0.742 0.320 MT 8993 missense variant T/C;G snv 0.800 1.000 5 1990 1994
dbSNP: rs387906423
rs387906423
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; ND4L
1 1.000 0.200 MT 8617 frameshift variant -/T delins 0.700 0