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
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
rs587777057
GNAO1
0.827 0.040 16 56336744 missense variant G/A snv 8
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
rs122460159
CDKL5
0.807 0.200 X 18564496 missense variant C/T snv 6
rs1060499553
GABRA1
0.827 0.040 5 161890983 missense variant G/A 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
rs773171451
KCNQ2 ; LOC105372724
0.882 0.040 20 63413535 missense variant G/A;T snv 8.0E-06 5
rs398123588
SCN1A-AS1 ; SCN1A
0.827 0.080 2 166039436 missense variant C/T snv 8.0E-06 5
rs796052491
GABRA1
0.851 0.040 5 161890982 missense variant T/A;C snv 4
rs796052493
GABRA1
0.851 0.040 5 161895668 missense variant G/A;T snv 4
rs118192236
LOC105372724 ; KCNQ2
0.851 0.080 20 63413472 stop gained G/A;C snv 4
rs121917953
SCN1A-AS1 ; SCN1A
0.851 0.080 2 166054677 missense variant T/A snv 4
rs794726775
SCN1A-AS1 ; SCN1A
0.882 0.040 2 166039420 splice region variant T/A 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
rs794726718
SCN1A ; SCN1A-AS1
0.851 0.080 2 166037930 missense variant C/G;T snv 4
rs796053228
SCN8A
0.882 0.160 12 51807100 missense variant C/G;T snv 4
rs796053361
STXBP1
0.925 0.040 9 127668160 missense variant G/A;T snv 4
rs398122854
ARX
0.882 0.040 X 25015657 stop gained G/C snv 3
rs797045599
GNAO1
0.882 0.040 16 56336817 missense variant C/T snv 3
rs1057516097
KCNQ2
0.882 0.040 20 63439671 missense variant G/T snv 3