Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555625363
rs1555625363
TUBB3
2 0.925 0.080 16 89932649 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1555162325
rs1555162325
TUBA1A
2 0.925 0.240 12 49185446 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1210404526
rs1210404526
EP300 ; EP300-AS1
2 0.925 0.120 22 41177712 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs765275884
rs765275884
ASPM
2 0.925 0.120 1 197143279 frameshift variant AT/- delins 0.700 1.000 1 2018 2018
dbSNP: rs745997770
rs745997770
ASPM
2 0.925 0.120 1 197102323 stop gained G/A snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1559193213
rs1559193213
SCN1A ; SCN1A-AS1 ; LOC102724058
11 0.807 0.160 2 166036149 frameshift variant -/G delins 0.700 0
dbSNP: rs1558008455
rs1558008455
ATP1A2
4 0.851 0.280 1 160135284 frameshift variant GT/- delins 0.700 1.000 1 2020 2020
dbSNP: rs1558005340
rs1558005340
ATP1A2
4 0.851 0.280 1 160127638 frameshift variant C/- del 0.700 1.000 1 2020 2020
dbSNP: rs143873938
rs143873938
FLNA
4 0.882 0.120 X 154365245 missense variant C/A;G;T snv 3.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs1557175424
rs1557175424
FLNA
2 0.925 0.080 X 154350030 splice donor variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs864309676
rs864309676
STX7
7 0.851 0.120 6 132472372 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs587783539
rs587783539
DCX
1 1.000 0.080 X 111410397 start lost A/G snv 0.700 0
dbSNP: rs587783564
rs587783564
DCX
1 1.000 0.080 X 111410344 stop gained G/A snv 0.700 0
dbSNP: rs587783593
rs587783593
DCX
1 1.000 0.080 X 111410304 missense variant C/T snv 0.700 0
dbSNP: rs587783519
rs587783519
DCX
1 1.000 0.080 X 111410284 stop gained G/A snv 0.700 0
dbSNP: rs587783520
rs587783520
DCX
1 1.000 0.080 X 111410275 frameshift variant T/- delins 0.700 0
dbSNP: rs587783521
rs587783521
DCX
2 0.925 0.080 X 111410271 missense variant A/G snv 0.700 0
dbSNP: rs587783522
rs587783522
DCX
1 1.000 0.080 X 111410269 stop gained G/A snv 0.700 0
dbSNP: rs587783523
rs587783523
DCX
2 0.925 0.080 X 111410249 missense variant C/A snv 0.700 0
dbSNP: rs587783524
rs587783524
DCX
1 1.000 0.080 X 111410245 frameshift variant TCTT/- delins 0.700 0
dbSNP: rs587783525
rs587783525
DCX
1 1.000 0.080 X 111410232 missense variant C/G snv 0.700 0
dbSNP: rs587783526
rs587783526
DCX
1 1.000 0.080 X 111410229 missense variant A/C snv 0.700 0
dbSNP: rs122457137
rs122457137
DCX
3 0.882 0.120 X 111410223 missense variant C/A;T snv 0.700 0
dbSNP: rs587783527
rs587783527
DCX
1 1.000 0.080 X 111410217 missense variant C/T snv 0.700 0
dbSNP: rs587783528
rs587783528
DCX
1 1.000 0.080 X 111410214 missense variant T/C snv 0.700 0