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: 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: rs1352878283
rs1352878283
SCO2 ; NCAPH2
1 1.000 0.120 22 50523639 missense variant A/G snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs137852863
rs137852863
NDUFAF2
5 0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 0.700 1.000 1 2005 2005
dbSNP: rs147816470
rs147816470
SURF1
1 1.000 0.120 9 133352696 stop gained G/A snv 8.0E-06 2.1E-05 0.700 1.000 1 2015 2015
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: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
15 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 1.000 1 1999 1999
dbSNP: rs199476104
rs199476104
CYTB ; ND5 ; ND6
2 0.925 0.160 MT 14484 missense variant T/C snv 0.700 1.000 1 2002 2002
dbSNP: rs199476107
rs199476107
CYTB ; ND5 ; ND6
2 0.925 0.200 MT 14453 missense variant G/A snv 0.700 1.000 1 2001 2001
dbSNP: rs199476118
rs199476118
ND1 ; ND2
3 0.925 0.160 MT 3460 missense variant G/A snv 0.700 1.000 1 2002 2002
dbSNP: rs199476144
rs199476144
ND1 ; TRNV
3 0.925 0.200 MT 1624 non coding transcript exon variant C/T snv 0.700 1.000 1 2002 2002
dbSNP: rs207459999
rs207459999
CYTB ; ND6
2 0.925 0.160 MT 15242 stop gained G/A snv 0.700 1.000 1 2000 2000
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: rs373436822
rs373436822
IARS2
1 1.000 0.120 1 220126827 stop gained G/A snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs587776433
rs587776433
ND1 ; ND2
2 0.925 0.200 MT 3481 missense variant G/A snv 0.700 1.000 1 2008 2008
dbSNP: rs587776434
rs587776434
ND1 ; ND2
1 1.000 0.120 MT 3890 missense variant G/A snv 0.700 1.000 1 2008 2008
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: 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: rs587776441
rs587776441
ND1 ; TRNV
1 1.000 0.120 MT 1644 non coding transcript exon variant G/T snv 0.700 1.000 1 1997 1997
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
dbSNP: rs759452074
rs759452074
SCO2 ; NCAPH2
2 0.925 0.200 22 50523835 missense variant C/A;T snv 8.0E-06; 3.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs772294726
rs772294726
NDUFAF2
1 1.000 0.120 5 61098995 stop gained G/A snv 2.0E-05 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
4 0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins 0.700 1.000 1 2016 2016