Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587780529
COX3 ; ND3 ; ND4L ; ND4
1.000 0.120 MT 10134 missense variant C/A snv 1
rs199476117
ND3 ; ND4 ; ND4L ; COX3
0.925 0.120 MT 10158 missense variant T/C snv 2
rs267606890
COX3 ; ND4 ; ND3 ; ND4L
0.925 0.120 MT 10191 missense variant T/C snv 2
rs267606891
ND4 ; COX3 ; ND3 ; ND4L
0.882 0.200 MT 10197 missense variant G/A snv 3
rs587776438
ND4 ; ND3 ; ND4L ; COX3
1.000 0.120 MT 10254 missense variant G/A snv 1
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv 13
rs28384199
ND5 ; ND4
0.882 0.160 MT 11777 missense variant C/A;G snv 3
rs199476112
ND4 ; ND5
0.925 0.160 MT 11778 missense variant G/A snv 2
rs149481081
TIMMDC1
1.000 0.120 3 119517281 stop gained C/G;T snv 8.0E-06; 4.0E-06 1
rs104894885
NDUFA1 ; RNF113A
0.851 0.120 X 119873312 missense variant G/A;C snv 5
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
rs267606893
ND5
0.925 0.120 MT 12706 missense variant T/C snv 2
rs776825296
COQ4
1.000 0.120 9 128325849 missense variant G/A;C snv 1.2E-04; 4.0E-06 1
rs762425351
CRAT
0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05 8
rs141970897
CRAT
0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 8
rs267606896
CYTB ; ND5
0.882 0.200 MT 13084 missense variant A/T snv 3
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9
rs782609482
SURF1
1.000 0.120 9 133352060 splice donor variant C/A;T snv 4.1E-06 4
rs121918658
SURF1
0.925 0.120 9 133352074 missense variant A/C snv 2
rs782490558
SURF1
0.882 0.120 9 133352101 frameshift variant CT/- delins 1.6E-05 3.5E-05 3
rs1554768246
SURF1
1.000 0.120 9 133352134 frameshift variant -/T delins 1
rs782349178
SURF1
1.000 0.120 9 133352135 frameshift variant TG/- delins 1.4E-05 2.8E-05 1
rs782007828
SURF1
1.000 0.120 9 133352139 splice acceptor variant CTCT/-;CT delins 4.5E-06; 4.5E-06 7.0E-06 1
rs1391748504
SURF1
1.000 0.120 9 133352143 splice acceptor variant C/G snv 7.0E-06 1