Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs764931850
LONP1
0.882 0.280 19 5696750 missense variant A/G snv 3
rs758265405
LONP1 ; RPL36
0.882 0.280 19 5692127 missense variant C/T snv 1.6E-05 3
rs587776497
MIR3944 ; ECHS1
0.925 0.120 10 133373332 start lost A/C;G snv 1.0E-05 2
rs587776498
MIR3944 ; ECHS1
0.925 0.120 10 133373329 missense variant G/A;C snv 1.0E-05 2
rs28939679
MIR7113 ; MIR4691 ; NDUFS8
0.925 0.120 11 68033147 missense variant C/T snv 8.1E-06 2
rs1131692037
MRPS34 ; EME2 ; NME3
0.925 0.120 16 1773083 stop gained C/A;T snv 2
rs201431517
MTFMT
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 17
rs759504704
NARS2
0.882 0.200 11 78436786 missense variant C/A;T snv 4.0E-06; 4.0E-06 4
rs565224393
NARS2
0.882 0.200 11 78469304 stop gained A/C;G;T snv 4.0E-06; 4.0E-06 3
rs1283780488
NARS2
0.925 0.200 11 78469304 stop gained -/T delins 2
rs1352878283
NCAPH2 ; SCO2
1.000 0.120 22 50523639 missense variant A/G snv 7.0E-06 1
rs199476118
ND1 ; ND2
0.925 0.160 MT 3460 missense variant G/A snv 3
rs587776433
ND1 ; ND2
0.925 0.200 MT 3481 missense variant G/A snv 2
rs199476144
ND1 ; TRNV
0.925 0.200 MT 1624 non coding transcript exon variant C/T snv 3
rs587776441
ND1 ; TRNV
1.000 0.120 MT 1644 non coding transcript exon variant G/T snv 1
rs199474672
ND2 ; COX1 ; TRNW
0.925 0.160 MT 5537 non coding transcript exon variant -/T ins 2
rs587776434
ND2 ; ND1
1.000 0.120 MT 3890 missense variant G/A snv 1
rs199476123
ND2 ; ND1 ; COX1
0.882 0.200 MT 3946 missense variant G/A snv 3
rs587776437
ND3 ; ATP6 ; COX3 ; ND4 ; ND4L
1.000 0.120 MT 9478 missense variant T/C snv 1
rs1556423632
ND3 ; COX3 ; ND4 ; ATP6 ; ND4L
1.000 0.120 MT 9191 missense variant T/C snv 1
rs199476138
ND3 ; COX3 ; ND4 ; ND4L ; ATP6
0.882 0.120 MT 9185 missense variant T/C snv 4
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 18
rs199476117
ND3 ; ND4 ; ND4L ; COX3
0.925 0.120 MT 10158 missense variant T/C snv 2
rs118192100
ND3 ; TRNK ; ATP8 ; COX2 ; COX3 ; ATP6
0.882 0.200 MT 8363 non coding transcript exon variant G/A snv 4
rs267606891
ND4 ; COX3 ; ND3 ; ND4L
0.882 0.200 MT 10197 missense variant G/A snv 3