Source: ALL
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: 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: 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: 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: 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: 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: 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: 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: 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: rs121908577
rs121908577
BCS1L
2 0.925 0.240 2 218661846 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 5 2007 2015
dbSNP: rs121908576
rs121908576
BCS1L ; ZNF142
4 0.851 0.360 2 218661153 stop gained C/T snv 1.7E-04 2.9E-04 0.700 0
dbSNP: rs28937590
rs28937590
BCS1L ; ZNF142
8 0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 0.700 0
dbSNP: rs398122972
rs398122972
CDK2AP1 ; C12orf65
2 0.925 0.120 12 123256876 frameshift variant G/- del 0.010 1.000 1 2016 2016
dbSNP: rs776825296
rs776825296
COQ4
1 1.000 0.120 9 128325849 missense variant G/A;C snv 1.2E-04; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs149718203
rs149718203
COX15 ; CUTC
2 0.925 0.120 10 99727098 stop gained G/C snv 2.5E-04 2.9E-04 0.700 1.000 4 2005 2016
dbSNP: rs28939711
rs28939711
COX15 ; CUTC
5 0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05 0.710 1.000 3 2004 2016
dbSNP: rs397514662
rs397514662
COX15 ; CUTC
4 0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 0.710 1.000 3 2004 2016
dbSNP: rs199476123
rs199476123
COX1 ; ND1 ; ND2
3 0.882 0.200 MT 3946 missense variant G/A snv 0.700 1.000 4 2004 2011
dbSNP: rs267606889
rs267606889
COX1 ; ND1 ; ND2
2 0.925 0.120 MT 4681 missense variant T/C snv 0.700 0
dbSNP: rs199474672
rs199474672
COX1 ; ND2 ; TRNW
2 0.925 0.160 MT 5537 non coding transcript exon variant -/T ins 0.700 1.000 2 1997 2003
dbSNP: rs587776435
rs587776435
COX1 ; ND2 ; TRNW
1 1.000 0.120 MT 5523 non coding transcript exon variant T/G snv 0.700 1.000 1 2009 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