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: rs1057516097
rs1057516097
KCNQ2
3 0.882 0.040 20 63439671 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1057518066
rs1057518066
KCNT1
1 1.000 0.040 9 135765732 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1060499553
rs1060499553
GABRA1
6 0.827 0.040 5 161890983 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs122460159
rs122460159
CDKL5
6 0.807 0.200 X 18564496 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs398122854
rs398122854
ARX
3 0.882 0.040 X 25015657 stop gained G/C snv 0.010 1.000 1 2010 2010
dbSNP: rs587777308
rs587777308
GABRA1
14 0.763 0.040 5 161873196 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs762434475
rs762434475
PRICKLE1
1 1.000 0.040 12 42465214 missense variant C/T snv 8.1E-06 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs796052491
rs796052491
GABRA1
4 0.851 0.040 5 161890982 missense variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs796052493
rs796052493
GABRA1
4 0.851 0.040 5 161895668 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs879255704
rs879255704
SCN8A
2 0.925 0.160 12 51786578 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs886044717
rs886044717
KCNT1
3 0.925 0.040 9 135779423 missense variant T/A snv 0.010 1.000 1 2017 2017
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166046969 missense variant C/G;T snv 0.700 1.000 8 2003 2015
dbSNP: rs794726718
rs794726718
SCN1A ; SCN1A-AS1
4 0.851 0.080 2 166037930 missense variant C/G;T snv 0.700 1.000 8 2002 2017
dbSNP: rs1057516085
rs1057516085
KCNQ2
8 0.827 0.080 20 63444747 missense variant C/T snv 0.700 1.000 7 2013 2017
dbSNP: rs121917953
rs121917953
SCN1A ; SCN1A-AS1
4 0.851 0.080 2 166054677 missense variant T/A snv 0.700 1.000 7 2001 2015
dbSNP: rs121918788
rs121918788
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166037931 missense variant G/A snv 0.700 1.000 7 2002 2017
dbSNP: rs587777057
rs587777057
GNAO1
8 0.827 0.040 16 56336744 missense variant G/A snv 0.700 1.000 6 2013 2017
dbSNP: rs794727740
rs794727740
KCNQ2
3 0.925 0.040 20 63442429 missense variant C/G;T snv 0.700 1.000 6 2012 2017
dbSNP: rs1057516098
rs1057516098
KCNQ2
2 0.925 0.040 20 63439657 missense variant C/T snv 0.700 1.000 5 2012 2017
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166047647 missense variant A/T snv 0.700 1.000 5 2009 2015
dbSNP: rs121917984
rs121917984
SCN1A ; SCN1A-AS1
8 0.790 0.080 2 166052869 missense variant G/A;C snv 0.700 1.000 5 2007 2015
dbSNP: rs397514581
rs397514581
KCNQ2
3 0.882 0.040 20 63444711 missense variant C/T snv 0.700 1.000 5 2012 2016
dbSNP: rs727503974
rs727503974
KCNQ2
2 0.925 0.040 20 63439704 missense variant G/A snv 0.700 1.000 5 2012 2017
dbSNP: rs886041262
rs886041262
KCNQ2
6 0.851 0.080 20 63444720 missense variant C/G;T snv 0.700 1.000 5 2013 2017
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 1.000 4 2016 2017