Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs137852981
ZEB2
0.752 0.480 2 144399104 stop gained G/A snv 30
rs375817528
CAPN1
0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 25
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 19
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9
rs748309520
SPG7
0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06 5
rs141659620
SPG7
0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06 5
rs752989523
SPG7
0.882 0.160 16 89553853 stop gained G/A;C snv 8.0E-06 5
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs1555119899
ATM ; C11orf65
0.925 0.240 11 108326149 missense variant G/C snv 7
rs104894107
FXN
0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 6
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv 26
rs1555471098
CREBBP
0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del 6
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18
rs121918358
SPG7
0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04 5
rs864321686
COQ7
0.925 0.120 16 19075775 missense variant T/A snv 3
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs138490803
COQ7
0.925 0.120 16 19074000 missense variant T/C snv 8.0E-06 7.0E-06 3
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs879253798
SPG7
1.000 0.080 16 89524099 frameshift variant TC/- delins 3