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: rs104894885
rs104894885
NDUFA1 ; RNF113A
5 0.851 0.120 X 119873312 missense variant G/A;C snv 0.010 1.000 1 2007 2007
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: 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: rs1267554976
rs1267554976
NDUFS8
1 1.000 0.120 11 68036321 start lost G/A;C snv 3.5E-05 0.700 0
dbSNP: rs587776498
rs587776498
ECHS1 ; MIR3944
2 0.925 0.120 10 133373329 missense variant G/A;C snv 1.0E-05 0.700 0
dbSNP: rs267606897
rs267606897
CYTB ; ND5
4 0.882 0.200 MT 13513 missense variant G/A snv 0.700 1.000 6 1997 2004
dbSNP: rs782623477
rs782623477
SURF1
1 1.000 0.120 9 133352509 stop gained G/A snv 1.1E-04 7.0E-05 0.700 1.000 6 1999 2014
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: rs782190413
rs782190413
SURF1
2 0.925 0.120 9 133352708 missense variant G/A snv 1.2E-05 3.5E-05 0.700 1.000 5 2002 2014
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: rs121918657
rs121918657
SURF1
2 0.925 0.120 9 133352446 stop gained G/A snv 1.2E-05 0.700 1.000 3 1998 2013
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: 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: rs376281345
rs376281345
NDUFS4
2 0.925 0.120 5 53603451 splice acceptor variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 3 2003 2010
dbSNP: rs201431517
rs201431517
MTFMT
17 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 1.000 2 2011 2014
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: rs104894705
rs104894705
NDUFS7
2 0.925 0.120 19 1391006 missense variant G/A snv 5.6E-05 8.4E-05 0.010 1.000 1 2000 2000
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: 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: 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: rs199476112
rs199476112
ND4 ; ND5
2 0.925 0.160 MT 11778 missense variant G/A snv 0.010 1.000 1 2011 2011
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: rs207459999
rs207459999
CYTB ; ND6
2 0.925 0.160 MT 15242 stop gained G/A snv 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