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: rs113331868
rs113331868
CAMK2A
6 5 150228191 splice donor variant C/A;T snv 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: rs1554402092
rs1554402092
CAMK2B
8 1.000 7 44254555 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554434435
rs1554434435
CAMK2B
4 1.000 7 44284206 stop gained G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1559296368
rs1559296368
ZNF142
4 1.000 2 218646330 frameshift variant C/- del 0.700 1.000 1 2019 2019
dbSNP: rs1562159562
rs1562159562
WASF1
1 6 110101594 stop gained G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1562159599
rs1562159599
WASF1
1 6 110101628 frameshift variant G/CCTGGC delins 0.700 1.000 1 2018 2018
dbSNP: rs587777161
rs587777161
CLCN4
2 1.000 X 10213734 missense variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs797044519
rs797044519
DYRK1A
9 0.925 21 37478285 stop gained C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs797044520
rs797044520
DYRK1A
6 0.925 21 37505442 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs797044521
rs797044521
DYRK1A ; LOC105372797
8 0.925 21 37480768 frameshift variant A/- delins 0.700 1.000 1 2015 2015
dbSNP: rs797044522
rs797044522
DYRK1A
9 0.925 21 37496119 frameshift variant AGAT/- delins 0.700 1.000 1 2015 2015
dbSNP: rs797044523
rs797044523
DYRK1A ; LOC105372797
9 0.882 21 37480756 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs797044524
rs797044524
DYRK1A ; LOC105372797
9 0.925 21 37486513 missense variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs797044525
rs797044525
DYRK1A ; LOC105372797
9 0.925 21 37490244 missense variant T/G snv 0.700 1.000 1 2015 2015
dbSNP: rs876661308
rs876661308
MEF2C
4 1.000 5 88823780 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs879255580
rs879255580
CLCN4
1 X 10206437 missense variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs879255581
rs879255581
CLCN4
1 X 10206464 missense variant T/C snv 0.700 1.000 1 2018 2018
dbSNP: rs879255582
rs879255582
CLCN4
1 X 10213705 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs879255583
rs879255583
CLCN4
1 X 10213768 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs879255584
rs879255584
CLCN4
1 X 10220837 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs879255585
rs879255585
CLCN4
1 X 10206756 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs879255586
rs879255586
CLCN4
1 X 10213979 frameshift variant -/A delins 0.700 1.000 1 2018 2018
dbSNP: rs879255590
rs879255590
CLCN4
1 X 10208595 splice region variant G/A snv 0.700 1.000 1 2018 2018