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: rs1555313219
rs1555313219
CHD8 ; SNORD9
2 1.000 14 21393500 stop gained C/A;T snv 0.700 1.000 4 2012 2016
dbSNP: rs1566446604
rs1566446604
CHD8
6 0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 0.700 1.000 4 2012 2016
dbSNP: rs864309661
rs864309661
WDR45
4 1.000 0.080 X 49077715 inframe deletion CCA/- delins 0.700 1.000 3 2012 2013
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs1064795945
rs1064795945
ASPM
5 1.000 0.120 1 197102332 frameshift variant AAGT/- delins 0.700 1.000 2 2002 2009
dbSNP: rs1064796738
rs1064796738
KIF11
5 1.000 0.240 10 92606655 stop gained C/T snv 0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968
TBC1D24
9 0.882 0.280 16 2499425 splice region variant G/A snv 0.700 1.000 2 2014 2014
dbSNP: rs587777162
rs587777162
EEF1A2
5 0.925 0.040 20 63495972 missense variant C/T snv 0.700 1.000 2 2012 2013
dbSNP: rs797044548
rs797044548
TBC1D24
9 0.882 0.280 16 2498253 missense variant G/T snv 0.700 1.000 2 2014 2014
dbSNP: rs1057515572
rs1057515572
PMS2
8 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1057519565
rs1057519565
DEAF1
9 0.851 0.200 11 687941 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1064793829
rs1064793829
GATAD2B
5 0.882 0.160 1 153816571 frameshift variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs113331868
rs113331868
CAMK2A
6 5 150228191 splice donor variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1287121256
rs1287121256
CAMK2A
9 0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1447313633
rs1447313633
ZNF142
4 1.000 2 218649090 frameshift variant TT/- del 0.700 1.000 1 2019 2019
dbSNP: rs1553794304
rs1553794304
PIGX ; CEP19
6 0.851 0.160 3 196707860 stop gained -/T delins 0.700 1.000 1 2018 2018
dbSNP: rs1554121872
rs1554121872
CAMK2A
7 0.882 0.040 5 150250270 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554121875
rs1554121875
CAMK2A
7 0.882 0.040 5 150250281 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1554122123
rs1554122123
CAMK2A
5 0.925 0.040 5 150251979 splice donor variant -/A delins 0.700 1.000 1 2017 2017
dbSNP: rs1554122129
rs1554122129
CAMK2A
6 0.882 0.040 5 150252032 missense variant T/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554122526
rs1554122526
CAMK2A
9 0.882 0.040 5 150256811 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554123982
rs1554123982
CAMK2A
7 0.925 0.040 5 150273157 splice acceptor variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1554385305
rs1554385305
CAMK2B
7 0.925 0.040 7 44241784 splice acceptor variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
12 0.882 0.040 7 44242328 missense variant C/T snv 0.700 1.000 1 2017 2017