Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs9809219
SDHA
0.925 0.120 5 251100 missense variant C/T snv 4.0E-05 1.4E-05 3
rs137852767
SDHA
0.925 0.120 5 251011 missense variant C/T snv 2
rs28933402
SURF1
0.925 0.120 9 133353893 missense variant C/T snv 2
rs28939679
MIR7113 ; MIR4691 ; NDUFS8
0.925 0.120 11 68033147 missense variant C/T snv 8.1E-06 2
rs113994093
POLG
1.000 0.120 15 89330241 missense variant C/T snv 1.2E-05 1.4E-05 1
rs782033035
SURF1
1.000 0.120 9 133353894 missense variant C/T snv 1.2E-05 1
rs1554062427
NDUFS4
1.000 0.120 5 53683163 frameshift variant CC/- del 1
rs782490558
SURF1
0.882 0.120 9 133352101 frameshift variant CT/- delins 1.6E-05 3.5E-05 3
rs1554768333
SURF1
1.000 0.120 9 133352565 frameshift variant CT/- delins 1
rs782007828
SURF1
1.000 0.120 9 133352139 splice acceptor variant CTCT/-;CT delins 4.5E-06; 4.5E-06 7.0E-06 1
rs398122972
C12orf65 ; CDK2AP1
0.925 0.120 12 123256876 frameshift variant G/- del 2
rs201431517
MTFMT
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 17
rs28939711
CUTC ; COX15
0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05 5
rs118192100
ND3 ; TRNK ; ATP8 ; COX2 ; COX3 ; ATP6
0.882 0.200 MT 8363 non coding transcript exon variant G/A snv 4
rs199476105
ND5 ; CYTB ; ND6
0.851 0.200 MT 14459 missense variant G/A snv 4
rs267606897
CYTB ; ND5
0.882 0.200 MT 13513 missense variant G/A snv 4
rs199476118
ND1 ; ND2
0.925 0.160 MT 3460 missense variant G/A snv 3
rs199476123
ND2 ; ND1 ; COX1
0.882 0.200 MT 3946 missense variant G/A snv 3
rs267606891
ND4 ; COX3 ; ND3 ; ND4L
0.882 0.200 MT 10197 missense variant G/A snv 3
rs104894705
NDUFS7
0.925 0.120 19 1391006 missense variant G/A snv 5.6E-05 8.4E-05 2
rs121908577
BCS1L
0.925 0.240 2 218661846 missense variant G/A snv 1.6E-05 7.0E-06 2
rs121918657
SURF1
0.925 0.120 9 133352446 stop gained G/A snv 1.2E-05 2
rs199476107
ND5 ; ND6 ; CYTB
0.925 0.200 MT 14453 missense variant G/A snv 2
rs199476112
ND4 ; ND5
0.925 0.160 MT 11778 missense variant G/A snv 2
rs207459999
CYTB ; ND6
0.925 0.160 MT 15242 stop gained G/A snv 2