Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs782349178
SURF1
1.000 0.120 9 133352135 frameshift variant TG/- delins 1.4E-05 2.8E-05 1
rs587776435
COX1 ; TRNW ; ND2
1.000 0.120 MT 5523 non coding transcript exon variant T/G snv 1
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 14
rs199476135
ND4 ; ND4L ; ND3 ; COX3 ; ATP6
0.882 0.120 MT 9176 missense variant T/C;G snv 3
rs141970897
CRAT
0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 7
rs199476138
ND3 ; COX3 ; ND4 ; ND4L ; ATP6
0.882 0.120 MT 9185 missense variant T/C snv 4
rs199476109
ND6 ; CYTB ; ND5
0.882 0.120 MT 14487 missense variant T/C snv 3
rs199476104
ND6 ; CYTB ; ND5
0.925 0.160 MT 14484 missense variant T/C snv 2
rs199476117
ND3 ; ND4 ; ND4L ; COX3
0.925 0.120 MT 10158 missense variant T/C snv 2
rs199476136
ATP8 ; ND3 ; COX3 ; ND4 ; ATP6 ; ND4L
0.925 0.120 MT 8851 missense variant T/C snv 2
rs267606889
COX1 ; ND2 ; ND1
0.925 0.120 MT 4681 missense variant T/C snv 2
rs267606890
COX3 ; ND4 ; ND3 ; ND4L
0.925 0.120 MT 10191 missense variant T/C snv 2
rs267606893
ND5
0.925 0.120 MT 12706 missense variant T/C snv 2
rs150667550
NDUFS2
0.925 0.120 1 161210599 missense variant T/C snv 3.5E-04 1.1E-04 1
rs1556423632
ND3 ; COX3 ; ND4 ; ATP6 ; ND4L
1.000 0.120 MT 9191 missense variant T/C snv 1
rs587776437
ND3 ; ATP6 ; COX3 ; ND4 ; ND4L
1.000 0.120 MT 9478 missense variant T/C snv 1
rs863224228
SURF1 ; SURF2
0.882 0.120 9 133354661 frameshift variant GGCTGGCAGA/AT delins 3
rs1564349087
SURF1
1.000 0.120 9 133353760 stop gained G/T snv 2
rs757043077
NDUFAF5
0.882 0.120 20 13808873 missense variant G/T snv 4.0E-06; 4.4E-05 1.4E-05 2
rs587776441
ND1 ; TRNV
1.000 0.120 MT 1644 non coding transcript exon variant G/T snv 1
rs713993048
SLC19A3
0.925 0.120 2 227702299 stop gained G/T snv 1
rs149718203
CUTC ; COX15
0.925 0.120 10 99727098 stop gained G/C snv 2.5E-04 2.9E-04 2
rs121909366
GHR
0.925 0.200 5 42699892 missense variant G/C snv 1.2E-05 1
rs587776444
COX3 ; ND3 ; ATP6 ; ATP8 ; ND4 ; ND4L
1.000 0.120 MT 8989 missense variant G/C snv 1
rs762620949
NDUFAF6
1.000 0.120 8 95048461 missense variant G/A;T snv 4.0E-06 7.0E-06 1