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: rs1568927747
rs1568927747
KCNQ2
1 1.000 20 63439680 frameshift variant T/- del 0.700 0
dbSNP: rs1568932480
rs1568932480
KCNQ2
1 1.000 20 63442440 frameshift variant -/AG delins 0.700 0
dbSNP: rs587777420
rs587777420
NECAP1
2 0.925 0.040 12 8089982 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs794726695
rs794726695
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166047679 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs796053216
rs796053216
SCN8A
4 0.851 0.160 12 51790401 stop gained G/A;T snv 0.700 0
dbSNP: rs796053242
rs796053242
SLC25A22
1 1.000 11 792310 frameshift variant AG/- del 8.0E-06 0.700 0
dbSNP: rs1559149128
rs1559149128
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 166013838 stop gained C/T snv 0.700 1.000 1 2002 2002
dbSNP: rs1568899375
rs1568899375
KCNQ2
1 1.000 20 63424207 splice acceptor variant C/T snv 0.700 1.000 1 2003 2003
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: 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: rs794726778
rs794726778
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166043878 stop gained G/A;C snv 0.700 1.000 1 2008 2008
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: rs1553560676
rs1553560676
SCN1A ; SCN1A-AS1
1 1.000 2 166073353 splice donor variant CTCACT/GGCA delins 0.700 1.000 2 2007 2009
dbSNP: rs1559140855
rs1559140855
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 166009842 splice acceptor variant C/A snv 0.700 1.000 2 2007 2009
dbSNP: rs794726816
rs794726816
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 166009843 splice acceptor variant T/C snv 0.700 1.000 2 2007 2009
dbSNP: rs1043031572
rs1043031572
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 166012205 stop gained G/A;C snv 0.700 1.000 1 2009 2009
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: rs1553561016
rs1553561016
SCN1A ; SCN1A-AS1
1 1.000 2 166073619 start lost C/T snv 0.700 1.000 2 2009 2011
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: rs121917981
rs121917981
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 165991510 missense variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs1564351103
rs1564351103
STXBP1
1 1.000 9 127665275 stop gained C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1568864658
rs1568864658
KCNQ2
1 1.000 20 63408428 frameshift variant C/- delins 0.700 1.000 1 2013 2013
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: rs794726762
rs794726762
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166073353 splice region variant C/G;T snv 0.700 1.000 2 2006 2014
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