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: rs104894718
rs104894718
SCN1B
8 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1064794243
rs1064794243
SCN4A
5 0.851 0.200 17 63941169 missense variant A/T snv 0.010 1.000 1 2005 2005
dbSNP: rs121434580
rs121434580
GABRD
2 0.925 0.080 1 2027636 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs121909672
rs121909672
GABRG2
3 0.882 0.080 5 162149168 missense variant A/T snv 0.010 1.000 1 2012 2012
dbSNP: rs121917953
rs121917953
SCN1A ; SCN1A-AS1
4 0.851 0.080 2 166054677 missense variant T/A snv 0.010 1.000 1 2003 2003
dbSNP: rs121918622
rs121918622
SCN1A ; SCN1A-AS1 ; LOC102724058
9 0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121918626
rs121918626
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.925 0.080 2 166012179 missense variant T/G snv 0.010 1.000 1 2020 2020
dbSNP: rs121918791
rs121918791
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.080 2 165992333 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs121918797
rs121918797
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.080 2 165992293 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs17183814
rs17183814
SCN2A
7 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.010 1.000 1 2002 2002
dbSNP: rs398123588
rs398123588
SCN1A ; SCN1A-AS1
5 0.827 0.080 2 166039436 missense variant C/T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs770780950
rs770780950
EPHA3
2 0.925 0.080 3 89210112 stop gained C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs796052504
rs796052504
GABRG2
2 0.925 0.080 5 162097716 stop gained C/T snv 0.010 1.000 1 2014 2014