Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 15
rs1135402725
PDHX
0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 6
rs137852863
NDUFAF2
0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 5
rs121908576
ZNF142 ; BCS1L
0.851 0.360 2 218661153 stop gained C/T snv 1.7E-04 2.9E-04 4
rs565224393
NARS2
0.882 0.200 11 78469304 stop gained A/C;G;T snv 4.0E-06; 4.0E-06 3
rs1131692037
MRPS34 ; EME2 ; NME3
0.925 0.120 16 1773083 stop gained C/A;T snv 2
rs121918657
SURF1
0.925 0.120 9 133352446 stop gained G/A snv 1.2E-05 2
rs1283780488
NARS2
0.925 0.200 11 78469304 stop gained -/T delins 2
rs149718203
CUTC ; COX15
0.925 0.120 10 99727098 stop gained G/C snv 2.5E-04 2.9E-04 2
rs1564349087
SURF1
1.000 0.120 9 133353760 stop gained G/T snv 2
rs207459999
CYTB ; ND6
0.925 0.160 MT 15242 stop gained G/A snv 2
rs713993048
SLC19A3
0.925 0.120 2 227702299 stop gained G/T snv 2
rs147816470
SURF1
1.000 0.120 9 133352696 stop gained G/A snv 8.0E-06 2.1E-05 1
rs149481081
TIMMDC1
1.000 0.120 3 119517281 stop gained C/G;T snv 8.0E-06; 4.0E-06 1
rs373436822
IARS2
1.000 0.120 1 220126827 stop gained G/A snv 4.0E-06 1
rs772294726
NDUFAF2
1.000 0.120 5 61098995 stop gained G/A snv 2.0E-05 1.4E-05 1
rs782623477
SURF1
1.000 0.120 9 133352509 stop gained G/A snv 1.1E-04 7.0E-05 1
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 18
rs201431517
MTFMT
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 17
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv 13
rs113994098
POLG
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 12
rs141970897
CRAT
0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 8
rs28937590
BCS1L ; ZNF142
0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 8
rs762425351
CRAT
0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05 8
rs104894885
NDUFA1 ; RNF113A
0.851 0.120 X 119873312 missense variant G/A;C snv 5