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
rs864321670
ALDH18A1
0.763 0.320 10 95633012 missense variant C/T snv 24
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 19
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
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 13
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs63750083
PSEN1
0.732 0.160 14 73219177 missense variant C/A;T snv 13
rs1555507479
GNAO1
0.807 0.160 16 56336799 missense variant C/A snv 12
rs672601368
KIF1A
0.827 0.160 2 240785062 missense variant C/G;T snv 10
rs768823392
SPG7
0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04 10
rs797045164
KIF1A
0.851 0.120 2 240785063 missense variant G/A snv 8
rs11538758
PRNP
0.882 0.160 20 4699534 missense variant C/A;T snv 8
rs672601362
KIF1A
0.851 0.080 2 240789246 missense variant G/A snv 7
rs63750599
PSEN1
0.827 0.160 14 73170963 missense variant T/C snv 7
rs63750802
PSEN1
0.851 0.080 14 73219144 missense variant T/G snv 7
rs63751032
PSEN1
0.851 0.080 14 73219156 missense variant T/A;G snv 7
rs886039904
GJC2
0.851 0.200 1 228157836 frameshift variant G/- del 6
rs672601363
KIF1A
0.851 0.080 2 240788109 missense variant C/T snv 6
rs121918550
AAAS
1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05 5
rs63750009
PSEN1
0.851 0.120 14 73192760 missense variant A/C;G snv 5
rs63750886
PSEN1
0.851 0.080 14 73198072 missense variant C/G snv 5
rs201689565
SPG11
1.000 0.080 15 44584299 missense variant A/G snv 4.8E-05 1.0E-04 5
rs672601364
KIF1A
0.925 0.040 2 240786513 missense variant C/A snv 4
rs672601365
KIF1A
0.925 0.040 2 240786444 missense variant G/A snv 7.0E-06 4