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: rs782490558
rs782490558
SURF1
3 0.882 0.120 9 133352101 frameshift variant CT/- delins 1.6E-05 3.5E-05 0.700 1.000 2 2013 2015
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: 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: rs1135402725
rs1135402725
PDHX
6 0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs113994093
rs113994093
POLG
1 1.000 0.120 15 89330241 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 1 2009 2009
dbSNP: rs1161932777
rs1161932777
NME3 ; MRPS34 ; EME2
2 0.925 0.120 16 1772798 splice donor variant C/A snv 7.0E-06 0.700 1.000 1 1986 1986
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: 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: 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: 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: 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: rs398122972
rs398122972
CDK2AP1 ; C12orf65
2 0.925 0.120 12 123256876 frameshift variant G/- del 0.010 1.000 1 2016 2016
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: rs713993048
rs713993048
SLC19A3
2 0.925 0.120 2 227702299 stop gained G/T snv 0.010 1.000 1 2013 2013
dbSNP: rs72619327
rs72619327
SURF1
1 1.000 0.120 9 133352593 missense variant C/A;G snv 4.0E-06; 1.4E-02 0.010 1.000 1 2009 2009