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: rs796053229
rs796053229
SCN8A
3 0.882 0.160 12 51807101 missense variant G/A;T snv 4.0E-06 0.700 1.000 8 2014 2017
dbSNP: rs121917937
rs121917937
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166052866 missense variant A/C snv 0.700 1.000 7 2003 2015
dbSNP: rs121918775
rs121918775
SCN1A ; SCN1A-AS1
5 0.827 0.080 2 166037886 missense variant G/A;T snv 0.700 1.000 7 2004 2016
dbSNP: rs121918793
rs121918793
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 165991549 missense variant G/A snv 0.700 1.000 7 2002 2018
dbSNP: rs797044878
rs797044878
GNAO1
3 0.882 16 56336763 missense variant G/A;T snv 0.700 1.000 7 2016 2017
dbSNP: rs794726744
rs794726744
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 166013743 splice donor variant C/A;T snv 0.700 1.000 6 2003 2014
dbSNP: rs1553519902
rs1553519902
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 165991548 inframe deletion AGT/- delins 0.700 1.000 5 2002 2017
dbSNP: rs794726763
rs794726763
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 165992053 missense variant C/G;T snv 0.700 1.000 5 2009 2017
dbSNP: rs118192185
rs118192185
KCNQ2
2 0.925 20 63472463 start lost T/C snv 0.700 1.000 4 2004 2015
dbSNP: rs121917951
rs121917951
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 165991957 missense variant G/A;T snv 0.700 1.000 3 2006 2015
dbSNP: rs121917964
rs121917964
SCN1A ; SCN1A-AS1
4 0.851 0.080 2 166073371 missense variant T/C snv 0.700 1.000 3 2007 2012
dbSNP: rs148442069
rs148442069
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166058574 missense variant G/A;C snv 6.8E-05 1.1E-04 0.700 1.000 3 2009 2015
dbSNP: rs1559140110
rs1559140110
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 166009717 splice donor variant A/G snv 0.700 1.000 3 2007 2011
dbSNP: rs1559199628
rs1559199628
SCN1A ; SCN1A-AS1
1 1.000 2 166037922 missense variant T/C snv 0.700 1.000 3 2009 2015
dbSNP: rs398123585
rs398123585
SCN1A ; SCN1A-AS1
4 0.851 0.080 2 166043875 stop gained G/A;T snv 4.0E-06 0.700 1.000 3 1991 2006
dbSNP: rs786205598
rs786205598
STXBP1
2 0.925 0.040 9 127668159 missense variant C/T snv 0.700 1.000 3 2015 2016
dbSNP: rs794726799
rs794726799
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166047668 stop gained G/A snv 0.700 1.000 3 2006 2016
dbSNP: rs886041715
rs886041715
GNAO1 ; DKFZP434H168 ; LOC283856
7 0.827 0.040 16 56192353 missense variant G/A;C;T snv 0.700 1.000 3 2015 2018
dbSNP: rs121917919
rs121917919
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 165994236 missense variant A/G snv 0.700 1.000 2 2007 2015
dbSNP: rs1553520439
rs1553520439
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 165992311 missense variant C/G snv 0.700 1.000 2 2009 2015
dbSNP: rs1553521567
rs1553521567
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 165996118 splice acceptor variant G/A snv 0.700 1.000 2 2007 2009
dbSNP: rs1553525313
rs1553525313
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 166002704 missense variant A/G snv 0.700 1.000 2 2009 2015
dbSNP: rs1553540503
rs1553540503
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 166036530 missense variant C/T snv 0.700 1.000 2 2003 2005
dbSNP: rs1553549471
rs1553549471
SCN1A ; SCN1A-AS1
1 1.000 2 166051741 stop gained C/G;T snv 0.700 1.000 2 2009 2015
dbSNP: rs1553549834
rs1553549834
SCN1A ; SCN1A-AS1
1 1.000 2 166051931 missense variant A/C snv 0.700 1.000 2 2009 2015