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: 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: 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: 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: rs1553520227
rs1553520227
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165992006 missense variant C/G snv 0.700 1.000 4 2009 2016
dbSNP: rs796053355
rs796053355
STXBP1
2 0.925 0.040 9 127663343 missense variant C/T snv 0.700 1.000 4 2013 2015
dbSNP: rs886041246
rs886041246
STXBP1
2 0.925 0.040 9 127675910 missense variant G/A;T snv 0.700 1.000 4 2010 2015
dbSNP: rs118192194
rs118192194
KCNQ2 ; KCNQ2-AS1
3 0.882 0.040 20 63446769 missense variant G/A snv 0.700 1.000 3 2006 2016
dbSNP: rs118192215
rs118192215
KCNQ2
2 0.925 0.040 20 63438651 missense variant G/A snv 0.700 1.000 3 2005 2013
dbSNP: rs1553524865
rs1553524865
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166002471 splice donor variant C/A snv 0.700 1.000 3 2007 2011
dbSNP: rs773171451
rs773171451
KCNQ2 ; LOC105372724
5 0.882 0.040 20 63413535 missense variant G/A;T snv 8.0E-06 0.700 1.000 3 2012 2015
dbSNP: rs794726775
rs794726775
SCN1A ; SCN1A-AS1
4 0.882 0.040 2 166039420 splice region variant T/A snv 0.700 1.000 3 2007 2013
dbSNP: rs796053361
rs796053361
STXBP1
4 0.925 0.040 9 127668160 missense variant G/A;T snv 0.700 1.000 3 2014 2017
dbSNP: rs121917935
rs121917935
SCN1A ; SCN1A-AS1
4 0.851 0.040 2 166054660 missense variant C/A;T snv 0.700 1.000 2 2006 2010
dbSNP: rs121917969
rs121917969
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166037891 missense variant A/G snv 0.700 1.000 2 2004 2012
dbSNP: rs1553520320
rs1553520320
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165992108 missense variant A/G snv 0.700 1.000 2 2009 2015
dbSNP: rs1553548096
rs1553548096
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166048906 stop gained A/C;T snv 0.700 1.000 2 2009 2015
dbSNP: rs1553560677
rs1553560677
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166073357 splice donor variant C/G snv 0.700 1.000 2 2007 2009
dbSNP: rs1553560740
rs1553560740
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166073405 inframe insertion -/ATC delins 0.700 1.000 2 2009 2015
dbSNP: rs398123593
rs398123593
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 166002537 stop gained G/A snv 0.700 1.000 2 2002 2014
dbSNP: rs587784453
rs587784453
STXBP1
2 0.925 0.040 9 127666236 missense variant A/G snv 0.700 1.000 2 2015 2016