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
rs201431517
MTFMT
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 17
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 15
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
rs113994098
POLG
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 12
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9
rs28937590
BCS1L ; ZNF142
0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 8
rs141970897
CRAT
0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 8
rs762425351
CRAT
0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05 8
rs1135402725
PDHX
0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 6
rs28939711
CUTC ; COX15
0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05 5
rs104894885
NDUFA1 ; RNF113A
0.851 0.120 X 119873312 missense variant G/A;C snv 5
rs137852863
NDUFAF2
0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 5
rs118192098
TRNK ; COX3 ; COX2 ; ATP6 ; ATP8 ; ND3
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 5
rs397514662
CUTC ; COX15
0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 4
rs267606897
CYTB ; ND5
0.882 0.200 MT 13513 missense variant G/A snv 4
rs759504704
NARS2
0.882 0.200 11 78436786 missense variant C/A;T snv 4.0E-06; 4.0E-06 4
rs199476138
ND3 ; COX3 ; ND4 ; ND4L ; ATP6
0.882 0.120 MT 9185 missense variant T/C snv 4
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
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
rs121908576
ZNF142 ; BCS1L
0.851 0.360 2 218661153 stop gained C/T snv 1.7E-04 2.9E-04 4
rs267606896
CYTB ; ND5
0.882 0.200 MT 13084 missense variant A/T snv 3