Source: UNIPROT ×
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 4
rs113994098
POLG
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 4
rs28939711
CUTC ; COX15
0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05 2
rs201431517
MTFMT
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 2
rs267606891
ND4 ; COX3 ; ND3 ; ND4L
0.882 0.200 MT 10197 missense variant G/A snv 2
rs199476135
ND4 ; ND4L ; ND3 ; COX3 ; ATP6
0.882 0.120 MT 9176 missense variant T/C;G snv 2
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv 2
rs759452074
SCO2 ; NCAPH2
0.925 0.200 22 50523835 missense variant C/A;T snv 8.0E-06; 3.2E-05 2
rs121908577
BCS1L
0.925 0.240 2 218661846 missense variant G/A snv 1.6E-05 7.0E-06 1
rs28937590
BCS1L ; ZNF142
0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 1
rs267606890
COX3 ; ND4 ; ND3 ; ND4L
0.925 0.120 MT 10191 missense variant T/C snv 1
rs397514662
CUTC ; COX15
0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 1
rs267606896
CYTB ; ND5
0.882 0.200 MT 13084 missense variant A/T snv 1
rs267606897
CYTB ; ND5
0.882 0.200 MT 13513 missense variant G/A snv 1
rs121909366
GHR
0.925 0.200 5 42699892 missense variant G/C snv 1.2E-05 1
rs587776498
MIR3944 ; ECHS1
0.925 0.120 10 133373329 missense variant G/A;C snv 1.0E-05 1
rs28939679
MIR7113 ; MIR4691 ; NDUFS8
0.925 0.120 11 68033147 missense variant C/T snv 8.1E-06 1
rs1131692037
MRPS34 ; EME2 ; NME3
0.925 0.120 16 1773083 stop gained C/A;T snv 1
rs1352878283
NCAPH2 ; SCO2
1.000 0.120 22 50523639 missense variant A/G snv 7.0E-06 1
rs199476118
ND1 ; ND2
0.925 0.160 MT 3460 missense variant G/A snv 1
rs199476138
ND3 ; COX3 ; ND4 ; ND4L ; ATP6
0.882 0.120 MT 9185 missense variant T/C snv 1
rs199476117
ND3 ; ND4 ; ND4L ; COX3
0.925 0.120 MT 10158 missense variant T/C snv 1
rs199476112
ND4 ; ND5
0.925 0.160 MT 11778 missense variant G/A snv 1
rs267606893
ND5
0.925 0.120 MT 12706 missense variant T/C snv 1
rs199476105
ND5 ; CYTB ; ND6
0.851 0.200 MT 14459 missense variant G/A snv 1