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
rs1135402725
PDHX
0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 6
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
rs397514662
CUTC ; COX15
0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 4
rs759504704
NARS2
0.882 0.200 11 78436786 missense variant C/A;T snv 4.0E-06; 4.0E-06 4
rs782609482
SURF1
1.000 0.120 9 133352060 splice donor variant C/A;T snv 4.1E-06 4
rs863224229
SURF2 ; SURF1
0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins 4
rs121909366
GHR
0.925 0.200 5 42699892 missense variant G/C snv 1.2E-05 3
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
rs28939714
NDUFS3
0.882 0.160 11 47582140 missense variant C/G;T snv 4.0E-06 3
rs565224393
NARS2
0.882 0.200 11 78469304 stop gained A/C;G;T snv 4.0E-06; 4.0E-06 3