Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs138877187
SCN1A-AS1 ; SCN1A
0.882 0.080 2 166045081 stop gained G/A;C;T snv 7.6E-05 3
rs146515561
SCN1A-AS1 ; SCN1A
1.000 0.040 2 166046869 stop gained G/A;C snv 2.0E-05 2.1E-05 1
rs761333438
LOC102724058 ; SCN1A ; SCN1A-AS1
1.000 0.040 2 165994191 stop gained C/A;T snv 1.2E-05 1
rs762434475
PRICKLE1
1.000 0.040 12 42465214 missense variant C/T snv 8.1E-06 1.4E-05 1
rs398123588
SCN1A-AS1 ; SCN1A
0.827 0.080 2 166039436 missense variant C/T snv 8.0E-06 5
rs773171451
KCNQ2 ; LOC105372724
0.882 0.040 20 63413535 missense variant G/A;T snv 8.0E-06 5
rs118192226
KCNQ2
0.925 0.040 20 63415086 stop gained G/A;T snv 4.2E-06 3
rs542420576
SCN1A ; SCN1A-AS1 ; LOC102724058
0.925 0.040 2 166036371 stop gained G/A;T snv 4.1E-06 2
rs759584387
LOC105372724 ; KCNQ2
0.882 0.040 20 63413556 missense variant G/A;T snv 4.0E-06 3
rs751170778
STXBP1
1.000 0.040 9 127668083 stop gained T/C;G snv 4.0E-06 1
rs794726736
SCN1A ; SCN1A-AS1
0.925 0.040 2 166043974 stop gained G/A;T snv 4.0E-06 2
rs747376305
LOC105372721 ; KCNQ2
1.000 0.040 20 63433841 stop gained G/A;C snv 4.0E-06 1.4E-05 1
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 14
rs118192211
KCNQ2
0.790 0.080 20 63439644 missense variant G/A;C snv 9
rs1057516085
KCNQ2
0.827 0.080 20 63444747 missense variant C/T snv 8
rs121917984
SCN1A-AS1 ; SCN1A
0.790 0.080 2 166052869 missense variant G/A;C snv 8
rs587777057
GNAO1
0.827 0.040 16 56336744 missense variant G/A snv 8
rs1060499553
GABRA1
0.827 0.040 5 161890983 missense variant G/A snv 6
rs122460159
CDKL5
0.807 0.200 X 18564496 missense variant C/T snv 6
rs74315391
KCNQ2
0.827 0.120 20 63444730 missense variant G/A snv 6
rs886041262
KCNQ2
0.851 0.080 20 63444720 missense variant C/G;T snv 6
rs118192236
LOC105372724 ; KCNQ2
0.851 0.080 20 63413472 stop gained G/A;C snv 4
rs121917918
SCN1A ; SCN1A-AS1
0.851 0.040 2 166058651 missense variant C/A;T snv 4
rs121917935
SCN1A ; SCN1A-AS1
0.851 0.040 2 166054660 missense variant C/A;T snv 4