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: 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: rs149481081
rs149481081
TIMMDC1
1 1.000 0.120 3 119517281 stop gained C/G;T snv 8.0E-06; 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: 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: rs1554059248
rs1554059248
NDUFS4
1 1.000 0.120 5 53646231 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1554062427
rs1554062427
NDUFS4
1 1.000 0.120 5 53683163 frameshift variant CC/- del 0.700 0
dbSNP: rs1554768246
rs1554768246
SURF1
1 1.000 0.120 9 133352134 frameshift variant -/T delins 0.700 0
dbSNP: rs1554768333
rs1554768333
SURF1
1 1.000 0.120 9 133352565 frameshift variant CT/- delins 0.700 0
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: rs1564349087
rs1564349087
SURF1
2 1.000 0.120 9 133353760 stop gained G/T snv 0.700 0
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: 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: 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: rs199476105
rs199476105
CYTB ; ND5 ; ND6
4 0.851 0.200 MT 14459 missense variant G/A snv 0.700 1.000 3 1994 2000
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: 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: rs199476112
rs199476112
ND4 ; ND5
2 0.925 0.160 MT 11778 missense variant G/A snv 0.010 1.000 1 2011 2011
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: rs199476118
rs199476118
ND1 ; ND2
3 0.925 0.160 MT 3460 missense variant G/A snv 0.700 1.000 1 2002 2002
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: 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: 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: 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: 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