Source: CURATED ×
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 62
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 8
rs886041262
KCNQ2
0.851 0.080 20 63444720 missense variant C/G;T snv 6
rs121917984
SCN1A-AS1 ; SCN1A
0.790 0.080 2 166052869 missense variant G/A;C snv 6
rs773171451
KCNQ2 ; LOC105372724
0.882 0.040 20 63413535 missense variant G/A;T snv 8.0E-06 5
rs118192211
KCNQ2
0.790 0.080 20 63439644 missense variant G/A;C snv 4
rs794726775
SCN1A-AS1 ; SCN1A
0.882 0.040 2 166039420 splice region variant T/A snv 4
rs794726718
SCN1A ; SCN1A-AS1
0.851 0.080 2 166037930 missense variant C/G;T snv 4
rs796053361
STXBP1
0.925 0.040 9 127668160 missense variant G/A;T snv 4
rs122460159
CDKL5
0.807 0.200 X 18564496 missense variant C/T snv 3
rs587777057
GNAO1
0.827 0.040 16 56336744 missense variant G/A snv 3
rs797045599
GNAO1
0.882 0.040 16 56336817 missense variant C/T snv 3
rs118192226
KCNQ2
0.925 0.040 20 63415086 stop gained G/A;T snv 4.2E-06 3
rs1555869758
KCNQ2
1.000 0.040 20 63438654 missense variant T/C snv 3
rs397514581
KCNQ2
0.882 0.040 20 63444711 missense variant C/T snv 3
rs74315391
KCNQ2
0.827 0.120 20 63444730 missense variant G/A snv 3
rs794727740
KCNQ2
0.925 0.040 20 63442429 missense variant C/G;T snv 3
rs864321707
KCNQ2
0.882 0.040 20 63439608 missense variant G/A snv 3
rs886041339
KCNQ2
0.925 0.040 20 63424195 frameshift variant G/-;GG delins 3
rs118192194
KCNQ2 ; KCNQ2-AS1
0.882 0.040 20 63446769 missense variant G/A snv 3
rs118192236
LOC105372724 ; KCNQ2
0.851 0.080 20 63413472 stop gained G/A;C snv 3
rs759584387
LOC105372724 ; KCNQ2
0.882 0.040 20 63413556 missense variant G/A;T snv 4.0E-06 3
rs138877187
SCN1A-AS1 ; SCN1A
0.882 0.080 2 166045081 stop gained G/A;C;T snv 7.6E-05 3
rs794726730
SCN1A-AS1 ; SCN1A
0.882 0.080 2 166042334 stop gained G/A snv 3
rs796053228
SCN8A
0.882 0.160 12 51807100 missense variant C/G;T snv 3