Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs369227537
SPG7
1.000 0.080 16 89550502 stop gained A/T snv 1.4E-04 9.8E-05 2
rs758833609
NDUFA6 ; SMDT1
1.000 22 42086305 stop gained C/A;T snv 8.0E-06; 4.4E-05 2
rs200944917
TOP3A
17 18305208 stop gained G/A;T snv 1.0E-04 1
rs753829320
MFF
1.000 2 227355756 stop gained C/T snv 1
rs886037772
RMND1
6 151436494 stop gained G/A snv 7.0E-06 1
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 21
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 14
rs1554887097
MRPL43 ; TWNK
0.807 0.320 10 100989331 missense variant G/A snv 10
rs113994096
POLG
0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 7
rs121918054
POLG
0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 7
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 5
rs80356529
OPA1
0.827 0.240 3 193643996 missense variant G/A;C snv 5
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
rs28937590
BCS1L ; ZNF142
0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 4
rs886041081
SLC25A4
0.925 4 185144891 missense variant G/A snv 4
rs1131691575
POLG ; FANCI
0.925 0.080 15 89317469 missense variant C/T snv 8.0E-06 1.4E-05 3
rs113994099
POLG
0.827 0.240 15 89320883 missense variant T/C snv 3
rs121908572
ZNF142 ; BCS1L
0.882 0.280 2 218661283 missense variant C/T snv 3
rs143319805
OPA1
0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 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