Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1135402725
PDHX
0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 6
rs104894885
NDUFA1 ; RNF113A
0.851 0.120 X 119873312 missense variant G/A;C snv 5
rs137852863
NDUFAF2
0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 5
rs28939711
CUTC ; COX15
0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05 5
rs199476138
ND3 ; COX3 ; ND4 ; ND4L ; ATP6
0.882 0.120 MT 9185 missense variant T/C snv 4
rs397514662
CUTC ; COX15
0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 4
rs782609482
SURF1
1.000 0.120 9 133352060 splice donor variant C/A;T snv 4.1E-06 4
rs199476109
ND6 ; CYTB ; ND5
0.882 0.120 MT 14487 missense variant T/C snv 3
rs199476135
ND4 ; ND4L ; ND3 ; COX3 ; ATP6
0.882 0.120 MT 9176 missense variant T/C;G snv 3
rs757043077
NDUFAF5
0.882 0.120 20 13808873 missense variant G/T snv 4.0E-06; 4.4E-05 1.4E-05 3
rs782490558
SURF1
0.882 0.120 9 133352101 frameshift variant CT/- delins 1.6E-05 3.5E-05 3
rs863224228
SURF1 ; SURF2
0.882 0.120 9 133354661 frameshift variant GGCTGGCAGA/AT delins 3
rs9809219
SDHA
0.925 0.120 5 251100 missense variant C/T snv 4.0E-05 1.4E-05 3
rs104894705
NDUFS7
0.925 0.120 19 1391006 missense variant G/A snv 5.6E-05 8.4E-05 2
rs1131692037
MRPS34 ; EME2 ; NME3
0.925 0.120 16 1773083 stop gained C/A;T snv 2
rs1161932777
EME2 ; MRPS34 ; NME3
0.925 0.120 16 1772798 splice donor variant C/A snv 7.0E-06 2
rs121918657
SURF1
0.925 0.120 9 133352446 stop gained G/A snv 1.2E-05 2
rs121918658
SURF1
0.925 0.120 9 133352074 missense variant A/C snv 2
rs137852767
SDHA
0.925 0.120 5 251011 missense variant C/T snv 2
rs149718203
CUTC ; COX15
0.925 0.120 10 99727098 stop gained G/C snv 2.5E-04 2.9E-04 2
rs150667550
NDUFS2
0.925 0.120 1 161210599 missense variant T/C snv 3.5E-04 1.1E-04 2
rs1556423547
ND4L ; ATP8 ; ND3 ; ATP6 ; COX3 ; ND4
1.000 0.120 MT 8839 missense variant G/A;C snv 2
rs1564349087
SURF1
1.000 0.120 9 133353760 stop gained G/T snv 2
rs199476117
ND3 ; ND4 ; ND4L ; COX3
0.925 0.120 MT 10158 missense variant T/C snv 2
rs199476136
ATP8 ; ND3 ; COX3 ; ND4 ; ATP6 ; ND4L
0.925 0.120 MT 8851 missense variant T/C snv 2