Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267606614
ATP6 ; ND4 ; COX3 ; ND3 ; ND4L
0.925 0.120 MT 9531 frameshift variant -/C delins 2
rs267606889
COX1 ; ND2 ; ND1
0.925 0.120 MT 4681 missense variant T/C snv 2
rs267606890
COX3 ; ND4 ; ND3 ; ND4L
0.925 0.120 MT 10191 missense variant T/C snv 2
rs267606893
ND5
0.925 0.120 MT 12706 missense variant T/C 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
rs376281345
NDUFS4
0.925 0.120 5 53603451 splice acceptor variant G/A snv 8.0E-06 7.0E-06 2
rs398122806
SURF1
0.925 0.120 9 133352518 missense variant A/G snv 2
rs398122972
C12orf65 ; CDK2AP1
0.925 0.120 12 123256876 frameshift variant G/- del 2
rs398124308
FOXRED1
0.925 0.120 11 126275000 frameshift variant -/AGTG delins 2
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
rs587776949
NDUFS4
0.925 0.120 5 53683152 frameshift variant A/-;AA delins 2.8E-05 2
rs713993048
SLC19A3
0.925 0.120 2 227702299 stop gained G/T snv 2
rs782190413
SURF1
0.925 0.120 9 133352708 missense variant G/A snv 1.2E-05 3.5E-05 2
rs113994093
POLG
1.000 0.120 15 89330241 missense variant C/T snv 1.2E-05 1.4E-05 1
rs1267554976
NDUFS8
1.000 0.120 11 68036321 start lost G/A;C snv 3.5E-05 1
rs1319811735
SURF1
1.000 0.120 9 133352493 missense variant A/G snv 4.0E-06 1
rs1352878283
NCAPH2 ; SCO2
1.000 0.120 22 50523639 missense variant A/G snv 7.0E-06 1
rs1391748504
SURF1
1.000 0.120 9 133352143 splice acceptor variant C/G snv 7.0E-06 1
rs1410388157
SURF2 ; SURF1
1.000 0.120 9 133356415 frameshift variant -/GCAGCCC delins 1
rs147816470
SURF1
1.000 0.120 9 133352696 stop gained G/A snv 8.0E-06 2.1E-05 1
rs149481081
TIMMDC1
1.000 0.120 3 119517281 stop gained C/G;T snv 8.0E-06; 4.0E-06 1
rs1554059248
NDUFS4
1.000 0.120 5 53646231 splice acceptor variant A/G snv 1
rs1554062427
NDUFS4
1.000 0.120 5 53683163 frameshift variant CC/- del 1