Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1559193213
SCN1A-AS1 ; SCN1A ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins 11
rs1558003446
ATP1A2
1.000 0.080 1 160123327 frameshift variant -/TC delins 2
rs121918364
SRPX2
0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 5
rs1131692230
PDHA1
0.807 0.160 X 19353124 missense variant A/G snv 9
rs1057518801
SCN3A
0.851 0.080 2 165130238 missense variant A/G snv 5
rs1135401758
TUBB2B
0.882 0.080 6 3227511 missense variant C/G snv 4
rs1064796460
TUBA1A
0.790 0.400 12 49185197 missense variant C/G;T snv 8
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs1567782714
ADGRG1
0.882 0.120 16 57655528 stop gained C/T snv 5
rs398122369
TUBB2B
0.882 0.160 6 3224828 missense variant C/T snv 3
rs1421508093
RASGRF1
1.000 0.080 15 79025460 missense variant C/T snv 4.0E-06 1
rs758216329
ARHGEF2
1.000 0.080 1 155958388 missense variant C/T snv 1.2E-05 1
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
rs386794162
TUBB3
0.925 0.160 16 89935711 missense variant CG/GA mnv 2
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 26
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs587776935
AKT3
0.827 0.120 1 243505296 missense variant G/A snv 7
rs587776934
PIK3R2
0.851 0.320 19 18162974 missense variant G/A snv 5
rs879255597
NEDD4L
0.882 0.080 18 58390667 missense variant G/A snv 3
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 25
rs1057518849
EHMT1
0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06 4
rs1064793286
TUBA1A
1.000 0.080 12 49185198 missense variant G/A;C snv 1
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs386834034
POMGNT1 ; TSPAN1
0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 9
rs1555155556
BORCS5
0.851 0.120 12 12435627 splice acceptor variant G/T snv 6