Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 41
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 31
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv 32
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 25
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 19
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 18
rs181109321
TTPA
0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 17
rs143319805
OPA1
0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 12
rs137852763
MRE11
0.851 0.320 11 94476318 missense variant C/G snv 6
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 18
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs767181086
LAMC2
0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06 11
rs138249161
POLR3B
0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 8
rs121918544
TINF2
0.827 0.200 14 24240635 missense variant C/T snv 7
rs74315402
PRNP
0.882 0.200 20 4699570 missense variant C/T snv 7
rs730882198
SPART
0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 6
rs886041761
KCNA2
0.925 0.200 1 110603902 missense variant C/T snv 6
rs201754030
TSFM
0.925 0.200 12 57796461 stop gained C/T snv 1.5E-03 1.3E-03 5
rs1335702493
APTX
0.925 0.200 9 32973507 stop gained C/A;T snv 4
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 26
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv 14