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: rs1057520918
rs1057520918
CACNA1A
11 0.790 0.160 19 13262780 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1057910
rs1057910
CYP2C9
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs111908689
rs111908689 		1 1.000 0.040 11 85938055 downstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1162306056
rs1162306056
KCNQ3
5 0.882 0.080 8 132174294 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs117067974
rs117067974
KCNQ2
5 0.851 0.080 20 63414174 missense variant C/A;G snv 2.0E-05; 2.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs118192211
rs118192211
KCNQ2
9 0.790 0.080 20 63439644 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs118192249
rs118192249
KCNQ3
3 0.882 0.080 8 132175461 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121434610
rs121434610
SMS
3 0.882 0.120 X 21967312 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121908165
rs121908165
HAX1
4 0.925 0.120 1 154273538 stop gained C/G;T snv 1.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs121908230
rs121908230
CACNA1A
5 0.882 0.080 19 13262789 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs121909731
rs121909731
GLUD1
7 0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121912504
rs121912504
KCNH2
6 0.851 0.200 7 150951711 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121917955
rs121917955
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.080 2 165992307 missense variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs121917986
rs121917986
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 166002588 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs121918321
rs121918321
STXBP1
2 0.925 0.040 9 127675855 stop gained C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs121918612
rs121918612
ATP1A2
3 0.925 0.040 1 160127704 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs121918628
rs121918628
SCN1A ; SCN1A-AS1 ; LOC102724058
5 0.851 0.080 2 165998049 missense variant G/T snv 0.010 1.000 1 2005 2005
dbSNP: rs121918782
rs121918782
SCN1A ; SCN1A-AS1
3 0.882 0.080 2 166041277 missense variant T/A;C snv 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs121918803
rs121918803
SCN1A ; SCN1A-AS1 ; LOC102724058
4 0.851 0.040 2 166009745 missense variant C/G snv 0.010 1.000 1 2017 2017
dbSNP: rs122460159
rs122460159
CDKL5
6 0.807 0.200 X 18564496 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs12483428
rs12483428
MIR155HG
1 1.000 0.040 21 25561470 upstream gene variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs12668095
rs12668095
LOC105375268
2 1.000 0.040 7 47036178 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs1278838206
rs1278838206
PCDH19
3 0.925 0.200 X 100296654 missense variant C/T snv 1.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs1285524167
rs1285524167
ABCC8
8 0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1373040226
rs1373040226
LNPEP
1 1.000 0.040 5 97027769 frameshift variant -/G delins 0.010 1.000 1 2019 2019