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: 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: rs121918658
rs121918658
2 0.925 0.120 9 133352074 missense variant A/C snv 0.700 1.000 7 1998 2012
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: rs28933402
rs28933402
2 0.925 0.120 9 133353893 missense variant C/T snv 0.700 1.000 7 1998 2012
dbSNP: rs398122806
rs398122806
2 0.925 0.120 9 133352518 missense variant A/G snv 0.700 1.000 7 1998 2012
dbSNP: rs782024654
rs782024654
1 1.000 0.120 9 133354713 missense variant A/G snv 7.0E-06 0.700 1.000 7 1998 2012
dbSNP: rs782033035
rs782033035
1 1.000 0.120 9 133353894 missense variant C/T snv 1.2E-05 0.700 1.000 7 1998 2012
dbSNP: rs782623477
rs782623477
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: rs267606893
rs267606893
ND5
2 0.925 0.120 MT 12706 missense variant T/C snv 0.800 1.000 5 2002 2007
dbSNP: rs782190413
rs782190413
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: rs782349178
rs782349178
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: rs863224228
rs863224228
3 0.882 0.120 9 133354661 frameshift variant GGCTGGCAGA/AT delins 0.700 1.000 5 1998 2015
dbSNP: rs149718203
rs149718203
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: 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: rs587776440
rs587776440
CYTB ; ND5
1 1.000 0.120 MT 13514 missense variant A/G snv 0.700 1.000 4 2001 2004
dbSNP: rs587776949
rs587776949
2 0.925 0.120 5 53683152 frameshift variant A/-;AA delins 2.8E-05 0.700 1.000 4 2008 2014
dbSNP: rs121918657
rs121918657
2 0.925 0.120 9 133352446 stop gained G/A snv 1.2E-05 0.700 1.000 3 1998 2013
dbSNP: rs137852767
rs137852767
2 0.925 0.120 5 251011 missense variant C/T snv 0.700 1.000 3 1995 2015
dbSNP: rs28939711
rs28939711
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
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: rs397514662
rs397514662
4 0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 0.710 1.000 3 2004 2016
dbSNP: rs782007828
rs782007828
1 1.000 0.120 9 133352139 splice acceptor variant CTCT/-;CT delins 4.5E-06; 4.5E-06 7.0E-06 0.700 1.000 3 2012 2014