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: rs387906684
rs387906684
SCN2A
4 0.851 0.120 2 165367327 stop gained G/A;T snv 0.020 1.000 2 2009 2015
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs13397210
rs13397210
SCN1A ; SCN1A-AS1
2 0.925 0.080 2 166065518 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1557043622
rs1557043622
SLC35A2
46 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1564351388
rs1564351388
STXBP1
4 0.882 0.080 9 127666193 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs242948
rs242948
CRHR1 ; MAPT-AS1 ; LINC02210-CRHR1
2 0.925 0.080 17 45836178 intron variant G/C;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs267608472
rs267608472
CDKL5
3 0.882 0.160 X 18579965 stop gained C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs267608493
rs267608493
CDKL5
5 0.827 0.200 X 18584331 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs370114048
rs370114048
SCN2A
3 0.882 0.080 2 165310541 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs387906799
rs387906799
KIF1A
19 0.742 0.200 2 240788118 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs398122394
rs398122394
ALG13
17 0.763 0.240 X 111685040 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs74315390
rs74315390
KCNQ2
8 0.790 0.120 20 63439609 missense variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs796052621
rs796052621
KCNQ2
6 0.827 0.080 20 63444756 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs796053134
rs796053134
SCN2A
5 0.827 0.080 2 165374737 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs864309676
rs864309676
STX7
7 0.851 0.120 6 132472372 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1060505041
rs1060505041
NACC1
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
dbSNP: rs1064796765
rs1064796765
DYNC1H1
19 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
dbSNP: rs1555955296
rs1555955296
CDKL5
17 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
dbSNP: rs1555968941
rs1555968941
CACNA1C
31 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
12 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
dbSNP: rs1569508922
rs1569508922
ALG13
5 0.882 0.160 X 111681268 missense variant T/A snv 0.700 0
dbSNP: rs35135520
rs35135520
TIMM50
12 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
dbSNP: rs45514095
rs45514095
TSC2
2 0.925 0.160 16 2085323 splice donor variant G/A snv 0.700 0
dbSNP: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
dbSNP: rs758022116
rs758022116
RALGAPB
13 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0