Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 38
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs80338700
PMM2
0.851 0.200 16 8806398 missense variant C/G;T snv 4.0E-06; 2.4E-05 7
rs1553546045
PTH2R
0.925 0.200 2 208442425 missense variant C/T snv 5
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs1060502227
SPAST
0.851 0.120 2 32136593 missense variant C/G;T snv 6
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 41
rs1217391623
SPG7
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 11
rs121918358
SPG7
0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04 5
rs141659620
SPG7
0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06 5
rs72547551
SPG7
0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04 5
rs748309520
SPG7
0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06 5
rs752989523
SPG7
0.882 0.160 16 89553853 stop gained G/A;C snv 8.0E-06 5
rs879253797
SPG7
0.882 0.160 16 89556954 missense variant C/T snv 1.4E-05 5
rs879253798
SPG7
1.000 0.080 16 89524099 frameshift variant TC/- delins 3
rs587777585
VARS2
0.882 6 30918851 missense variant C/G;T snv 2.4E-05 6
rs137852981
ZEB2
0.752 0.480 2 144399104 stop gained G/A snv 30