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: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
4 0.882 0.120 MT 9185 missense variant T/C snv 0.810 1.000 8 1993 2013
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
3 0.882 0.120 MT 9176 missense variant T/C;G snv 0.800 1.000 11 1993 2007
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 10 1990 2007
dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
3 0.882 0.200 MT 10197 missense variant G/A snv 0.800 1.000 2 2007 2009
dbSNP: rs267606890
rs267606890
COX3 ; ND3 ; ND4 ; ND4L
2 0.925 0.120 MT 10191 missense variant T/C snv 0.710 1.000 7 2001 2019
dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
2 0.925 0.120 MT 10158 missense variant T/C snv 0.700 1.000 4 2003 2005
dbSNP: rs199476136
rs199476136
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
2 0.925 0.120 MT 8851 missense variant T/C snv 0.700 1.000 4 1995 2013
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
5 0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 0.700 1.000 2 1991 1993
dbSNP: rs118192100
rs118192100
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
4 0.882 0.200 MT 8363 non coding transcript exon variant G/A snv 0.700 1.000 1 2000 2000
dbSNP: rs1556423547
rs1556423547
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
2 1.000 0.120 MT 8839 missense variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs1556423632
rs1556423632
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.120 MT 9191 missense variant T/C snv 0.700 1.000 1 2005 2005
dbSNP: rs267606614
rs267606614
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
2 0.925 0.120 MT 9531 frameshift variant -/C delins 0.700 1.000 1 2000 2000
dbSNP: rs587776437
rs587776437
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.120 MT 9478 missense variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs587776438
rs587776438
COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.120 MT 10254 missense variant G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs587776444
rs587776444
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.120 MT 8989 missense variant G/C snv 0.700 1.000 1 2013 2013
dbSNP: rs587780529
rs587780529
COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.120 MT 10134 missense variant C/A snv 0.700 1.000 1 2014 2014