Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs199474672
ND2 ; COX1 ; TRNW
0.925 0.160 MT 5537 non coding transcript exon variant -/T ins 2
rs1554062427
NDUFS4
1.000 0.120 5 53683163 frameshift variant CC/- del 1
rs398122972
C12orf65 ; CDK2AP1
0.925 0.120 12 123256876 frameshift variant G/- del 1
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9
rs863224229
SURF2 ; SURF1
0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins 4
rs782490558
SURF1
0.882 0.120 9 133352101 frameshift variant CT/- delins 1.6E-05 3.5E-05 3
rs863224228
SURF1 ; SURF2
0.882 0.120 9 133354661 frameshift variant GGCTGGCAGA/AT delins 3
rs267606614
ATP6 ; ND4 ; COX3 ; ND3 ; ND4L
0.925 0.120 MT 9531 frameshift variant -/C delins 2
rs398124308
FOXRED1
0.925 0.120 11 126275000 frameshift variant -/AGTG delins 2
rs587776949
NDUFS4
0.925 0.120 5 53683152 frameshift variant A/-;AA delins 2.8E-05 2
rs1410388157
SURF2 ; SURF1
1.000 0.120 9 133356415 frameshift variant -/GCAGCCC delins 1
rs1554768246
SURF1
1.000 0.120 9 133352134 frameshift variant -/T delins 1
rs1554768333
SURF1
1.000 0.120 9 133352565 frameshift variant CT/- delins 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
rs782349178
SURF1
1.000 0.120 9 133352135 frameshift variant TG/- delins 1.4E-05 2.8E-05 1
rs201431517
MTFMT
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 17
rs199474657
TRNL1 ; ND1 ; ND2
0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 15
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 14
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 12
rs113994098
POLG
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 10
rs141970897
CRAT
0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 7
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv 7
rs762425351
CRAT
0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05 7
rs118192098
TRNK ; COX3 ; COX2 ; ATP6 ; ATP8 ; ND3
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 5
rs137852863
NDUFAF2
0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 5