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: 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: 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: 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: 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: rs1283780488
rs1283780488
NARS2
2 0.925 0.200 11 78469304 stop gained -/T delins 0.010 < 0.001 1 2015 2015
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: 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: rs565224393
rs565224393
NARS2
3 0.882 0.200 11 78469304 stop gained A/C;G;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs713993048
rs713993048
SLC19A3
2 0.925 0.120 2 227702299 stop gained G/T snv 0.010 1.000 1 2013 2013
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: rs1131692037
rs1131692037
NME3 ; MRPS34 ; EME2
2 0.925 0.120 16 1773083 stop gained C/A;T snv 0.700 0
dbSNP: rs121908576
rs121908576
BCS1L ; ZNF142
4 0.851 0.360 2 218661153 stop gained C/T snv 1.7E-04 2.9E-04 0.700 0
dbSNP: rs142441643
rs142441643
SDHA
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 0
dbSNP: rs1564349087
rs1564349087
SURF1
2 1.000 0.120 9 133353760 stop gained G/T snv 0.700 0
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: 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: 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
SURF1
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
SURF1
2 0.925 0.120 9 133353893 missense variant C/T snv 0.700 1.000 7 1998 2012
dbSNP: rs398122806
rs398122806
SURF1
2 0.925 0.120 9 133352518 missense variant A/G snv 0.700 1.000 7 1998 2012
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