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: rs1057518853
rs1057518853
RPS6KA3
3 0.882 0.120 X 20161641 splice donor variant -/A delins 0.700 0
dbSNP: rs1553553485
rs1553553485
SCN1A ; SCN1A-AS1
1 1.000 0.080 2 166058626 stop gained G/C snv 0.700 0
dbSNP: rs1555228665
rs1555228665
SCN8A
4 0.882 0.080 12 51788702 missense variant T/C snv 0.700 0
dbSNP: rs1555745467
rs1555745467
CACNA1A
23 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
dbSNP: rs1559193213
rs1559193213
SCN1A ; SCN1A-AS1 ; LOC102724058
11 0.807 0.160 2 166036149 frameshift variant -/G delins 0.700 0
dbSNP: rs1564365418
rs1564365418
GRIN1
5 0.882 0.120 9 137163846 missense variant G/T snv 0.700 0
dbSNP: rs201439531
rs201439531
CHAT
11 0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06 0.700 0
dbSNP: rs34757931
rs34757931
VPS11
26 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
18 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
dbSNP: rs755604487
rs755604487
PHIP
10 0.790 0.200 6 79026079 stop gained G/A;C snv 0.700 0
dbSNP: rs769234940
rs769234940
CHAT
11 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs886039529
rs886039529
SCN1A ; SCN1A-AS1 ; LOC102724058
2 1.000 0.080 2 166036051 frameshift variant TT/- delins 0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs1318653
rs1318653
MIR29B2CHG
1 1.000 0.080 1 207841577 intron variant T/C snv 0.19 0.710 1.000 1 2014 2014
dbSNP: rs273259
rs273259
IFI44L
1 1.000 0.080 1 78628133 missense variant A/G snv 0.38 0.36 0.710 1.000 1 2014 2014
dbSNP: rs11105468
rs11105468
LOC105369890
1 1.000 0.080 12 89935056 intron variant T/A snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs114444506
rs114444506
ANO3 ; LOC105376598 ; ANO3-AS1
1 1.000 0.080 11 26325284 intron variant T/C snv 1.7E-02 0.700 1.000 1 2014 2014
dbSNP: rs121909323
rs121909323
CACNA1A
8 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs2724384
rs2724384
CD46
1 1.000 0.080 1 207756858 intron variant G/A snv 0.80 0.700 1.000 1 2014 2014
dbSNP: rs3769955
rs3769955
SCN2A
1 1.000 0.080 2 165378122 intron variant C/T snv 0.42 0.700 1.000 1 2014 2014
dbSNP: rs431905504
rs431905504
SLC6A3
9 0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 0.700 1.000 1 2012 2012
dbSNP: rs6432860
rs6432860
SCN1A ; SCN1A-AS1
4 0.925 0.080 2 166041354 synonymous variant A/G;T snv 0.73; 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs786200962
rs786200962
CACNA1A
7 0.827 0.120 19 13298768 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs786200963
rs786200963
CACNA1A
6 0.827 0.200 19 13371683 splice region variant C/T snv 0.700 1.000 1 2015 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 2012 2012