Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs199474657
TRNL1 ; ND1 ; ND2
0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 15
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 14
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 13
rs1554887097
MRPL43 ; TWNK
0.807 0.320 10 100989331 missense variant G/A snv 10
rs121918054
POLG
0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 7
rs118192098
TRNK ; COX3 ; COX2 ; ATP6 ; ATP8 ; ND3
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 5
rs80356529
OPA1
0.827 0.240 3 193643996 missense variant G/A;C snv 5
rs121434453
TRNE ; ND6 ; CYTB
0.882 0.320 MT 14709 non coding transcript exon variant T/C snv 4
rs199476138
ND3 ; COX3 ; ND4 ; ND4L ; ATP6
0.882 0.120 MT 9185 missense variant T/C snv 4
rs267606897
CYTB ; ND5
0.882 0.200 MT 13513 missense variant G/A snv 4
rs80356530
OPA1 ; LOC102724808
0.882 0.320 3 193667168 splice region variant TTAG/- delins 4
rs886041081
SLC25A4
0.925 4 185144891 missense variant G/A snv 4
rs113994099
POLG
0.827 0.240 15 89320883 missense variant T/C snv 3
rs115079861
RMND1
1.000 6 151405236 stop lost C/G;T snv 2.0E-05; 4.0E-03 3
rs121908572
ZNF142 ; BCS1L
0.882 0.280 2 218661283 missense variant C/T snv 3
rs387906421
CYTB ; TRNE ; ND6
0.925 0.200 MT 14674 non coding transcript exon variant T/C;G snv 3
rs398124298
LOC102724808 ; OPA1
0.925 0.160 3 193647110 missense variant C/A;G snv 3
rs111033573
MRPL43 ; TWNK
1.000 0.200 10 100989285 missense variant G/A;T snv 2
rs111033577
MRPL43 ; TWNK
1.000 0.200 10 100989352 missense variant T/C;G snv 2
rs1131692063
CYTB ; ND5
1.000 0.160 MT 13051 missense variant G/A snv 2
rs1554887213
TWNK
1.000 0.200 10 100989774 splice acceptor variant G/T snv 2
rs1555745989
ATP5F1D
0.925 0.040 19 1244118 missense variant T/G snv 2
rs1556423547
ND4L ; ATP8 ; ND3 ; ATP6 ; COX3 ; ND4
1.000 0.120 MT 8839 missense variant G/A;C snv 2
rs1569463838
NDUFA6 ; SMDT1
1.000 22 42086238 frameshift variant CT/- delins 2