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: rs782349178
rs782349178
SURF1
1 1.000 0.120 9 133352135 frameshift variant TG/- delins 1.4E-05 2.8E-05 0.700 1.000 5 2006 2013
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: 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: 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: 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: rs267606893
rs267606893
ND5
2 0.925 0.120 MT 12706 missense variant T/C snv 0.800 1.000 5 2002 2007
dbSNP: rs199476109
rs199476109
CYTB ; ND5 ; ND6
3 0.882 0.120 MT 14487 missense variant T/C snv 0.800 1.000 4 2003 2005
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: rs141970897
rs141970897
CRAT
8 0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 0.010 1.000 1 2020 2020
dbSNP: rs150667550
rs150667550
NDUFS2
2 0.925 0.120 1 161210599 missense variant T/C snv 3.5E-04 1.1E-04 0.010 1.000 1 2010 2010
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: 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: 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: rs267606889
rs267606889
COX1 ; ND1 ; ND2
2 0.925 0.120 MT 4681 missense variant T/C snv 0.700 0
dbSNP: rs863224228
rs863224228
SURF1 ; SURF2
3 0.882 0.120 9 133354661 frameshift variant GGCTGGCAGA/AT delins 0.700 1.000 5 1998 2015
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: rs713993048
rs713993048
SLC19A3
2 0.925 0.120 2 227702299 stop gained G/T snv 0.010 1.000 1 2013 2013
dbSNP: rs757043077
rs757043077
NDUFAF5
3 0.882 0.120 20 13808873 missense variant G/T snv 4.0E-06; 4.4E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs1564349087
rs1564349087
SURF1
2 1.000 0.120 9 133353760 stop gained G/T snv 0.700 0
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: rs121909366
rs121909366
GHR
3 0.925 0.200 5 42699892 missense variant G/C snv 1.2E-05 0.010 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: rs762620949
rs762620949
NDUFAF6
1 1.000 0.120 8 95048461 missense variant G/A;T snv 4.0E-06 7.0E-06 0.700 0