Source: ALL
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 45
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 31
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 18
rs199474657
TRNL1 ; ND1 ; ND2
0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 15
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 13
rs143319805
OPA1
0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 12
rs1554887097
MRPL43 ; TWNK
0.807 0.320 10 100989331 missense variant G/A snv 10
rs113994099
POLG
0.827 0.240 15 89320883 missense variant T/C snv 10
rs80356529
OPA1
0.827 0.240 3 193643996 missense variant G/A;C snv 9
rs28937590
BCS1L ; ZNF142
0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 8
rs113994096
POLG
0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 8
rs121918054
POLG
0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 8
rs2307441
POLG
0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02 6
rs118192098
TRNK ; COX3 ; COX2 ; ATP6 ; ATP8 ; ND3
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 5
rs267606897
CYTB ; ND5
0.882 0.200 MT 13513 missense variant G/A snv 4
rs199476138
ND3 ; COX3 ; ND4 ; ND4L ; ATP6
0.882 0.120 MT 9185 missense variant T/C snv 4
rs80356530
OPA1 ; LOC102724808
0.882 0.320 3 193667168 splice region variant TTAG/- delins 4
rs121918046
POLG
0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05 4
rs571825723
PSEN1
0.925 0.080 14 73211867 missense variant C/T snv 4.4E-05 2.8E-05 4
rs886041081
SLC25A4
0.925 4 185144891 missense variant G/A snv 4
rs121434453
TRNE ; ND6 ; CYTB
0.882 0.320 MT 14709 non coding transcript exon variant T/C snv 4
rs121908572
ZNF142 ; BCS1L
0.882 0.280 2 218661283 missense variant C/T snv 4
rs1555745989
ATP5F1D
0.925 0.040 19 1244118 missense variant T/G snv 3
rs752169833
CHCHD2
0.925 0.040 7 56102878 missense variant C/A;T snv 8.0E-06; 5.6E-05 3