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: rs782024654
rs782024654
SURF1 ; SURF2
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
SURF1
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
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: 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: rs587776440
rs587776440
CYTB ; ND5
1 1.000 0.120 MT 13514 missense variant A/G snv 0.700 1.000 4 2001 2004
dbSNP: rs782007828
rs782007828
SURF1
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
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: 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: 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: 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: 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: 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: 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
dbSNP: rs772294726
rs772294726
NDUFAF2
1 1.000 0.120 5 61098995 stop gained G/A snv 2.0E-05 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs772794204
rs772794204
NDUFS1
1 1.000 0.120 2 206144934 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs774232299
rs774232299
NDUFS1
1 1.000 0.120 2 206144019 missense variant A/G snv 4.0E-06 0.010 1.000 1 2010 2010
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: rs863224926
rs863224926
SURF1 ; SURF2
1 1.000 0.120 9 133356268 splice donor variant C/G snv 0.700 1.000 1 2012 2012