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
rs111033319
ATP8 ; COX3 ; COX1 ; ATP6 ; TRNS1 ; COX2
0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins 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
rs118192099
ATP6 ; COX3 ; ND3 ; COX2 ; TRNK ; ATP8
0.882 0.200 MT 8356 non coding transcript exon variant T/C snv 3
rs199474817
COX2 ; COX3 ; TRNS1 ; COX1 ; ATP6 ; ATP8
0.882 0.200 MT 7512 non coding transcript exon variant T/C snv 3
rs199474818
COX3 ; COX1 ; ATP6 ; COX2 ; ATP8
0.882 0.320 MT 7445 stop lost A/C;G;T snv 3
rs1057516064
ND3 ; COX3 ; ATP6 ; ND4L ; ND4
0.925 0.120 MT 9237 missense variant G/A snv 3
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
rs794726857
ATP6 ; ATP8 ; ND4L ; ND3 ; COX3 ; ND4
0.925 0.200 MT 8969 missense variant G/A snv 2
rs267606614
ATP6 ; ND4 ; COX3 ; ND3 ; ND4L
0.925 0.120 MT 9531 frameshift variant -/C delins 2
rs267606612
ATP6 ; ND4 ; ND3 ; COX3 ; ND4L
1.000 0.080 MT 9480 inframe deletion TCGCAGGATTTTTCT/- delins 2
rs387906422
ATP8 ; COX3 ; ATP6 ; ND3 ; COX2 ; ND4L
0.925 0.040 MT 8528 start lost T/C snv 2
rs199476136
ATP8 ; ND3 ; COX3 ; ND4 ; ATP6 ; ND4L
0.925 0.120 MT 8851 missense variant T/C snv 2
rs387906419
COX3 ; COX1 ; COX2 ; TRNS1 ; ATP8 ; ATP6
0.925 0.200 MT 7497 non coding transcript exon variant G/A 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
rs267606615
ND4 ; COX3 ; ATP6 ; ND3 ; ND4L
0.925 0.080 MT 9379 stop gained G/A snv 2
rs1556423547
ND4L ; ATP8 ; ND3 ; ATP6 ; COX3 ; ND4
1.000 0.120 MT 8839 missense variant G/A;C snv 2
rs199474821
TRNS1 ; COX3 ; COX2 ; ATP8 ; COX1 ; ATP6
0.925 0.280 MT 7511 non coding transcript exon variant T/C snv 2
rs199474828
ATP6 ; ATP8 ; COX3 ; COX2
1.000 0.080 MT 8042 frameshift variant TA/- delins 1
rs1569484166
ATP6 ; COX1 ; ATP8 ; COX2 ; COX3
1.000 MT 7668 inframe insertion -/CAC delins 1
rs1569484177
ATP6 ; COX2 ; ATP8 ; COX1 ; COX3
MT 7789 inframe insertion -/TCC delins 1