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: rs1057518801
rs1057518801
SCN3A
5 0.851 0.080 2 165130238 missense variant A/G snv 0.710 1.000 1 2018 2018
dbSNP: rs386834034
rs386834034
TSPAN1 ; POMGNT1
9 0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 0.700 1.000 1 2016 2016
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: rs1057518776
rs1057518776
DYNC1H1
4 0.925 0.080 14 101986027 missense variant T/A snv 0.700 0
dbSNP: rs1057518849
rs1057518849
EHMT1
4 0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1057519925
rs1057519925
PIK3CA
25 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
dbSNP: rs1064796460
rs1064796460
TUBA1A
8 0.790 0.400 12 49185197 missense variant C/G;T snv 0.700 0
dbSNP: rs1064796765
rs1064796765
DYNC1H1
19 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
dbSNP: rs1131692230
rs1131692230
PDHA1
9 0.807 0.160 X 19353124 missense variant A/G snv 0.700 0
dbSNP: rs1135401758
rs1135401758
TUBB2B
4 0.882 0.080 6 3227511 missense variant C/G snv 0.700 0
dbSNP: rs1555155556
rs1555155556
BORCS5
6 0.851 0.120 12 12435627 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1555954284
rs1555954284
DDX3X
24 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
dbSNP: rs1558003446
rs1558003446
ATP1A2
2 1.000 0.080 1 160123327 frameshift variant -/TC delins 0.700 0
dbSNP: rs1558010146
rs1558010146
ATP1A2
2 1.000 0.080 1 160139668 stop gained G/T snv 0.700 0
dbSNP: rs1559193213
rs1559193213
SCN1A ; SCN1A-AS1 ; LOC102724058
11 0.807 0.160 2 166036149 frameshift variant -/G delins 0.700 0
dbSNP: rs1567782714
rs1567782714
ADGRG1
5 0.882 0.120 16 57655528 stop gained C/T snv 0.700 0
dbSNP: rs398124401
rs398124401
SRD5A3
26 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs587776625
rs587776625
ADGRG1
12 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0
dbSNP: rs587776935
rs587776935
AKT3
7 0.827 0.120 1 243505296 missense variant G/A snv 0.700 0
dbSNP: rs1064793286
rs1064793286
TUBA1A
1 1.000 0.080 12 49185198 missense variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs121918364
rs121918364
SRPX2
5 0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 0.010 1.000 1 2008 2008
dbSNP: rs137853267
rs137853267
FGD1
2 0.925 0.200 X 54465797 missense variant T/C snv 0.010 < 0.001 1 2007 2007
dbSNP: rs1421508093
rs1421508093
RASGRF1
1 1.000 0.080 15 79025460 missense variant C/T snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs386794162
rs386794162
TUBB3
2 0.925 0.160 16 89935711 missense variant CG/GA mnv 0.010 1.000 1 2012 2012
dbSNP: rs387906840
rs387906840
TUBA1A
2 0.925 0.240 12 49186824 missense variant T/G snv 0.010 1.000 1 2011 2011