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: rs121434462
rs121434462
ND4 ; ND5 ; TRNL2
2 0.925 0.200 MT 12315 non coding transcript exon variant G/A snv 0.700 1.000 5 1996 2009
dbSNP: rs794726857
rs794726857
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
2 0.925 0.200 MT 8969 missense variant G/A snv 0.700 1.000 3 2014 2018
dbSNP: rs121434474
rs121434474
ND4 ; ND5 ; TRNH
2 0.925 0.200 MT 12147 non coding transcript exon variant G/A snv 0.700 1.000 2 2004 2004
dbSNP: rs199476113
rs199476113
ND4 ; ND4L ; ND5
1 1.000 0.200 MT 11084 missense variant A/G snv 0.700 1.000 1 1992 1992
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
18 0.742 0.320 MT 8993 missense variant T/C;G snv 0.010 1.000 1 2007 2007