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: rs1006737
rs1006737
CACNA1C
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 1.000 1 2013 2013
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs1057518443
rs1057518443
CUL4B
3 1.000 0.040 X 120557964 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1057524792
rs1057524792
LIAS
3 1.000 0.040 4 39467617 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1064793923
rs1064793923
SCN8A
1 12 51699581 missense variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1085307920
rs1085307920
KCNQ2
1 20 63444805 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs10974620
rs10974620
SLC1A1 ; SPATA6L
1 9 4557296 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11001109
rs11001109
ADK
1 10 74683339 intron variant A/G snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs1105879
rs1105879
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
11 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2017 2017
dbSNP: rs1131692040
rs1131692040
RPL10 ; SNORA70
4 0.882 0.160 X 154399844 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1135402725
rs1135402725
PDHX
6 0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs115466046
rs115466046
KCNJ10
2 1 160042480 missense variant C/T snv 1.2E-02 1.1E-02 0.010 1.000 1 2011 2011
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 2017 2017
dbSNP: rs118192211
rs118192211
KCNQ2
9 0.790 0.080 20 63439644 missense variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs118192250
rs118192250
KCNQ3
5 0.851 0.120 8 132175457 missense variant C/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121909673
rs121909673
GABRG2
10 0.776 0.080 5 162093965 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs121909674
rs121909674
GABRG2
8 0.790 0.080 5 162153132 stop gained C/T snv 0.010 1.000 1 2017 2017
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: rs121918100
rs121918100
TTR
11 0.827 0.160 18 31595184 missense variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs121918799
rs121918799
SCN1A ; SCN1A-AS1 ; LOC102724058
14 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs121918815
rs121918815
SCN1A ; SCN1A-AS1 ; LOC102724058
2 1.000 0.080 2 165991679 missense variant C/A snv 0.010 1.000 1 2004 2004
dbSNP: rs122453114
rs122453114
SLC6A8
2 1.000 0.120 X 153693586 missense variant G/C snv 0.010 1.000 1 2002 2002
dbSNP: rs1301051974
rs1301051974
TSC1
3 0.925 0.120 9 132905820 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs132630298
rs132630298
PHF6
2 1.000 0.200 X 134393556 missense variant G/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1344706
rs1344706
ZNF804A
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2015 2015