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: rs1559101585
rs1559101585
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 165991779 frameshift variant -/A ins 0.700 1.000 1 2016 2016
dbSNP: rs1559140306
rs1559140306
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 166009749 frameshift variant -/A delins 0.700 0
dbSNP: rs1568932480
rs1568932480
KCNQ2
1 1.000 20 63442440 frameshift variant -/AG delins 0.700 0
dbSNP: rs1559217391
rs1559217391
SCN1A ; SCN1A-AS1
1 1.000 2 166043973 frameshift variant -/G delins 0.700 0
dbSNP: rs1564333757
rs1564333757
STXBP1
1 1.000 9 127612424 frameshift variant -/GCTGTTGTCGG delins 0.700 0
dbSNP: rs1559216338
rs1559216338
SCN1A ; SCN1A-AS1
1 1.000 2 166043860 frameshift variant -/TC delins 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: 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: rs1553549834
rs1553549834
SCN1A ; SCN1A-AS1
1 1.000 2 166051931 missense variant A/C snv 0.700 1.000 2 2009 2015
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: rs121918764
rs121918764
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 165996053 stop gained A/C;G snv 0.700 0
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: 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: rs1553525313
rs1553525313
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 166002704 missense variant A/G snv 0.700 1.000 2 2009 2015
dbSNP: rs1554778417
rs1554778417
STXBP1
2 0.925 0.040 9 127675802 splice acceptor variant A/G snv 0.700 1.000 2 2010 2016
dbSNP: rs1559238432
rs1559238432
SCN1A ; SCN1A-AS1
1 1.000 2 166051886 missense variant A/G snv 0.700 1.000 2 2009 2015
dbSNP: rs1559245847
rs1559245847
SCN1A ; SCN1A-AS1
1 1.000 2 166054683 missense variant A/G snv 0.700 0
dbSNP: rs1559105301
rs1559105301
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 165992294 frameshift variant AG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs796053242
rs796053242
SLC25A22
1 1.000 11 792310 frameshift variant AG/- del 8.0E-06 0.700 0
dbSNP: rs1553560760
rs1553560760
SCN1A ; SCN1A-AS1
1 1.000 2 166073439 inframe deletion AGGTTCTTTCCA/- delins 0.700 1.000 2 2009 2015
dbSNP: rs1553519902
rs1553519902
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 165991548 inframe deletion AGT/- delins 0.700 1.000 5 2002 2017
dbSNP: rs1568864658
rs1568864658
KCNQ2
1 1.000 20 63408428 frameshift variant C/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1559200672
rs1559200672
SCN1A ; SCN1A-AS1
1 1.000 2 166038057 frameshift variant C/- delins 0.700 0
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: rs1553546763
rs1553546763
SCN1A ; SCN1A-AS1
1 1.000 2 166046841 stop gained C/A snv 0.700 0