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: 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: rs104894785
rs104894785
DCX
2 0.925 0.080 X 111410134 stop gained G/A;C snv 0.700 0
dbSNP: rs587783519
rs587783519
DCX
1 1.000 0.080 X 111410284 stop gained G/A snv 0.700 0
dbSNP: rs587783522
rs587783522
DCX
1 1.000 0.080 X 111410269 stop gained G/A snv 0.700 0
dbSNP: rs587783532
rs587783532
DCX
1 1.000 0.080 X 111410189 stop gained G/T snv 0.700 0
dbSNP: rs587783550
rs587783550
DCX
1 1.000 0.080 X 111401286 stop gained C/A snv 0.700 0
dbSNP: rs587783553
rs587783553
DCX
1 1.000 0.080 X 111401244 stop gained T/A;C snv 0.700 0
dbSNP: rs587783554
rs587783554
DCX
1 1.000 0.080 X 111401217 stop gained G/A snv 0.700 0
dbSNP: rs587783564
rs587783564
DCX
1 1.000 0.080 X 111410344 stop gained G/A snv 0.700 0
dbSNP: rs587783586
rs587783586
DCX
1 1.000 0.080 X 111333093 stop gained T/A snv 0.700 0
dbSNP: rs587783588
rs587783588
DCX
1 1.000 0.080 X 111333078 stop gained G/A snv 0.700 0
dbSNP: rs587783590
rs587783590
DCX
1 1.000 0.080 X 111331036 stop gained G/A snv 0.700 0
dbSNP: rs587783591
rs587783591
DCX
1 1.000 0.080 X 111330997 stop gained T/A snv 0.700 0
dbSNP: rs587783592
rs587783592
DCX
1 1.000 0.080 X 111330943 stop gained G/A snv 0.700 0
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: 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: rs1555162325
rs1555162325
TUBA1A
2 0.925 0.240 12 49185446 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1555411378
rs1555411378
DYNC1H1
2 0.925 0.080 14 102033157 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1555625363
rs1555625363
TUBB3
2 0.925 0.080 16 89932649 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1556405129
rs1556405129
DCX
2 0.925 0.080 X 111410209 missense variant A/T snv 0.700 1.000 1 2018 2018
dbSNP: rs387906739
rs387906739
DYNC1H1 ; LOC107984661
3 0.882 0.200 14 102039416 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs387906740
rs387906740
DYNC1H1
3 0.882 0.200 14 102002546 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs778148267
rs778148267
NFKB2
1 1.000 0.080 10 102400738 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs864309676
rs864309676
STX7
7 0.851 0.120 6 132472372 missense variant T/G snv 0.700 1.000 1 2016 2016