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: rs587777308
rs587777308
GABRA1
14 0.763 0.040 5 161873196 missense variant G/A snv 0.700 1.000 3 2014 2016
dbSNP: rs886039373
rs886039373
GABRA1
4 0.882 0.040 5 161882639 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1559144583
rs1559144583
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166012137 stop gained C/T snv 0.700 0
dbSNP: rs1561587715
rs1561587715
GABRA1
3 0.925 0.040 5 161895676 frameshift variant TGCTCACCATGACAACATTG/- delins 0.700 0
dbSNP: rs211037
rs211037
GABRG2
14 0.742 0.240 5 162101274 synonymous variant C/T snv 0.28 0.31 0.020 1.000 2 2013 2018
dbSNP: rs635311
rs635311
SLC4A3
2 0.925 0.040 2 219637645 missense variant A/C;T snv 0.75; 8.0E-06 0.020 1.000 2 2002 2009
dbSNP: rs1130183
rs1130183
KCNJ10
6 0.827 0.160 1 160041722 missense variant G/A snv 4.6E-02 4.7E-02 0.010 1.000 1 2005 2005
dbSNP: rs121918771
rs121918771
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166051793 missense variant G/A snv 1.2E-05 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs142740233
rs142740233
SLC12A5
3 0.925 0.080 20 46056217 missense variant G/A;T snv 3.3E-03; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs16850331
rs16850331
SCN2A
2 0.925 0.080 2 165292743 intron variant C/T snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs1799971
rs1799971
OPRM1
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 < 0.001 1 2006 2006
dbSNP: rs1801475
rs1801475
KCNQ2
1 1.000 0.040 20 63406924 missense variant T/G snv 0.61 0.59 0.010 1.000 1 1999 1999
dbSNP: rs1801545
rs1801545
KCNQ2
1 1.000 0.040 20 63414925 synonymous variant G/A;C;T snv 9.3E-05; 7.2E-02 0.010 1.000 1 2008 2008
dbSNP: rs1883415
rs1883415
GPLD1
3 0.925 0.040 6 24491247 intron variant A/C snv 0.34 0.010 1.000 1 2006 2006
dbSNP: rs2229902
rs2229902
GRM7
4 0.851 0.160 3 7452730 missense variant A/T snv 0.31 0.30 0.010 1.000 1 2000 2000
dbSNP: rs2486253
rs2486253
KCNJ10
3 0.882 0.080 1 160039629 3 prime UTR variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs3219151
rs3219151
GABRA6
14 0.752 0.160 5 161701908 3 prime UTR variant C/T snv 0.51 0.010 1.000 1 2014 2014
dbSNP: rs3789243
rs3789243
ABCB1
14 0.776 0.120 7 87591570 intron variant A/G snv 0.50 0.010 1.000 1 2009 2009
dbSNP: rs3943809
rs3943809
SCN2A
2 0.925 0.080 2 165344371 intron variant A/G snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs41307846
rs41307846
GABRD
1 1.000 0.040 1 2028260 missense variant G/A snv 1.7E-02 1.7E-02 0.010 1.000 1 2005 2005
dbSNP: rs4906902
rs4906902
GABRB3
14 0.724 0.200 15 26774621 intron variant A/G snv 0.15 0.010 1.000 1 2007 2007
dbSNP: rs548424453
rs548424453
SLC12A5
2 1.000 0.040 20 46057189 missense variant C/A;T snv 5.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs6318
rs6318
HTR2C ; LOC105373313
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 1999 1999
dbSNP: rs796053048
rs796053048
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165991522 missense variant G/A snv 0.010 1.000 1 2020 2020