Source: CLINVAR

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 14
rs118192098
TRNK ; COX3 ; COX2 ; ATP6 ; ATP8 ; ND3
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 5
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
rs267606891
ND4 ; COX3 ; ND3 ; ND4L
0.882 0.200 MT 10197 missense variant G/A snv 3
rs199476135
ND4 ; ND4L ; ND3 ; COX3 ; ATP6
0.882 0.120 MT 9176 missense variant T/C;G snv 3
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
rs267606890
COX3 ; ND4 ; ND3 ; ND4L
0.925 0.120 MT 10191 missense variant T/C snv 2
rs199476117
ND3 ; ND4 ; ND4L ; COX3
0.925 0.120 MT 10158 missense variant T/C snv 2
rs1556423547
ND4L ; ATP8 ; ND3 ; ATP6 ; COX3 ; ND4
1.000 0.120 MT 8839 missense variant G/A;C snv 2
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
rs587776437
ND3 ; ATP6 ; COX3 ; ND4 ; ND4L
1.000 0.120 MT 9478 missense variant T/C snv 1
rs1556423632
ND3 ; COX3 ; ND4 ; ATP6 ; ND4L
1.000 0.120 MT 9191 missense variant T/C snv 1
rs587776438
ND4 ; ND3 ; ND4L ; COX3
1.000 0.120 MT 10254 missense variant G/A snv 1