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
rs199476136
ATP8 ; ND3 ; COX3 ; ND4 ; ATP6 ; ND4L
0.925 0.120 MT 8851 missense variant T/C snv 2
rs121908577
BCS1L
0.925 0.240 2 218661846 missense variant G/A snv 1.6E-05 7.0E-06 2
rs28937590
BCS1L ; ZNF142
0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 8
rs398122972
C12orf65 ; CDK2AP1
0.925 0.120 12 123256876 frameshift variant G/- del 2
rs776825296
COQ4
1.000 0.120 9 128325849 missense variant G/A;C snv 1.2E-04; 4.0E-06 1
rs267606889
COX1 ; ND2 ; ND1
0.925 0.120 MT 4681 missense variant T/C snv 2
rs587776435
COX1 ; TRNW ; ND2
1.000 0.120 MT 5523 non coding transcript exon variant T/G snv 1
rs587776444
COX3 ; ND3 ; ATP6 ; ATP8 ; ND4 ; ND4L
1.000 0.120 MT 8989 missense variant G/C snv 1
rs587780529
COX3 ; ND3 ; ND4L ; ND4
1.000 0.120 MT 10134 missense variant C/A snv 1
rs267606890
COX3 ; ND4 ; ND3 ; ND4L
0.925 0.120 MT 10191 missense variant T/C snv 2
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
rs28939711
CUTC ; COX15
0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05 5
rs397514662
CUTC ; COX15
0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 4
rs149718203
CUTC ; COX15
0.925 0.120 10 99727098 stop gained G/C snv 2.5E-04 2.9E-04 2
rs267606897
CYTB ; ND5
0.882 0.200 MT 13513 missense variant G/A snv 4
rs267606896
CYTB ; ND5
0.882 0.200 MT 13084 missense variant A/T snv 3
rs587776440
CYTB ; ND5
1.000 0.120 MT 13514 missense variant A/G snv 1
rs207459999
CYTB ; ND6
0.925 0.160 MT 15242 stop gained G/A snv 2
rs1161932777
EME2 ; MRPS34 ; NME3
0.925 0.120 16 1772798 splice donor variant C/A snv 7.0E-06 2
rs398124308
FOXRED1
0.925 0.120 11 126275000 frameshift variant -/AGTG delins 2
rs121909366
GHR
0.925 0.200 5 42699892 missense variant G/C snv 1.2E-05 3
rs373436822
IARS2
1.000 0.120 1 220126827 stop gained G/A snv 4.0E-06 1
rs758802403
LONP1
0.882 0.280 19 5694510 missense variant C/T snv 2.0E-05 2.1E-05 3