Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 18
rs199474657
TRNL1 ; ND1 ; ND2
0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 15
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv 13
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9
rs104894885
NDUFA1 ; RNF113A
0.851 0.120 X 119873312 missense variant G/A;C snv 5
rs118192098
TRNK ; COX3 ; COX2 ; ATP6 ; ATP8 ; ND3
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 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
rs199476138
ND3 ; COX3 ; ND4 ; ND4L ; ATP6
0.882 0.120 MT 9185 missense variant T/C snv 4
rs267606897
CYTB ; ND5
0.882 0.200 MT 13513 missense variant G/A snv 4
rs863224229
SURF2 ; SURF1
0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins 4
rs199476109
ND6 ; CYTB ; ND5
0.882 0.120 MT 14487 missense variant T/C snv 3
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
rs199476135
ND4 ; ND4L ; ND3 ; COX3 ; ATP6
0.882 0.120 MT 9176 missense variant T/C;G snv 3
rs199476144
ND1 ; TRNV
0.925 0.200 MT 1624 non coding transcript exon variant C/T snv 3
rs267606891
ND4 ; COX3 ; ND3 ; ND4L
0.882 0.200 MT 10197 missense variant G/A snv 3
rs267606896
CYTB ; ND5
0.882 0.200 MT 13084 missense variant A/T snv 3
rs28384199
ND5 ; ND4
0.882 0.160 MT 11777 missense variant C/A;G snv 3
rs764931850
LONP1
0.882 0.280 19 5696750 missense variant A/G snv 3
rs863224228
SURF1 ; SURF2
0.882 0.120 9 133354661 frameshift variant GGCTGGCAGA/AT delins 3
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
rs121918658
SURF1
0.925 0.120 9 133352074 missense variant A/C snv 2
rs1283780488
NARS2
0.925 0.200 11 78469304 stop gained -/T delins 2