Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894885
NDUFA1 ; RNF113A
0.851 0.120 X 119873312 missense variant G/A;C snv 5
rs1556423547
ND4L ; ATP8 ; ND3 ; ATP6 ; COX3 ; ND4
1.000 0.120 MT 8839 missense variant G/A;C snv 2
rs587776498
MIR3944 ; ECHS1
0.925 0.120 10 133373329 missense variant G/A;C snv 1.0E-05 2
rs1267554976
NDUFS8
1.000 0.120 11 68036321 start lost G/A;C snv 3.5E-05 1
rs776825296
COQ4
1.000 0.120 9 128325849 missense variant G/A;C snv 1.2E-04; 4.0E-06 1
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
rs376281345
NDUFS4
0.925 0.120 5 53603451 splice acceptor variant G/A snv 8.0E-06 7.0E-06 2
rs587776433
ND1 ; ND2
0.925 0.200 MT 3481 missense variant G/A snv 2
rs782190413
SURF1
0.925 0.120 9 133352708 missense variant G/A snv 1.2E-05 3.5E-05 2
rs147816470
SURF1
1.000 0.120 9 133352696 stop gained G/A snv 8.0E-06 2.1E-05 1
rs373436822
IARS2
1.000 0.120 1 220126827 stop gained G/A snv 4.0E-06 1
rs587776434
ND2 ; ND1
1.000 0.120 MT 3890 missense variant G/A snv 1