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: rs1057521537
rs1057521537
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166002695 missense variant C/A;G snv 0.700 0
dbSNP: rs1057522982
rs1057522982
STXBP1
1 1.000 0.040 9 127678429 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs1060500603
rs1060500603
KCNQ2
1 1.000 0.040 20 63407083 frameshift variant -/CTGGCGC delins 0.700 0
dbSNP: rs1060501722
rs1060501722
STXBP1
1 1.000 0.040 9 127678505 stop gained G/A;C snv 0.700 0
dbSNP: rs1060501723
rs1060501723
STXBP1
1 1.000 0.040 9 127660048 frameshift variant A/- del 0.700 0
dbSNP: rs1060501724
rs1060501724
STXBP1
1 1.000 0.040 9 127661161 missense variant A/C snv 0.700 0
dbSNP: rs1060502182
rs1060502182
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166013817 frameshift variant -/A delins 0.700 0
dbSNP: rs1060502185
rs1060502185
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166058565 splice region variant G/C;T snv 0.700 0
dbSNP: rs1060502187
rs1060502187
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166058641 frameshift variant G/- delins 0.700 0
dbSNP: rs1060502188
rs1060502188
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166012166 stop gained A/C snv 0.700 0
dbSNP: rs1060502190
rs1060502190
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166002489 missense variant G/C snv 0.700 0
dbSNP: rs1060503108
rs1060503108
CACNA2D2
1 1.000 0.040 3 50387592 frameshift variant TA/- delins 0.700 0
dbSNP: rs118192211
rs118192211
KCNQ2
9 0.790 0.080 20 63439644 missense variant G/A;C snv 0.700 0
dbSNP: rs118192226
rs118192226
KCNQ2
3 0.925 0.040 20 63415086 stop gained G/A;T snv 4.2E-06 0.700 0
dbSNP: rs118192228
rs118192228
KCNQ2
2 0.925 0.040 20 63414902 splice donor variant C/T snv 0.700 0
dbSNP: rs121917918
rs121917918
SCN1A ; SCN1A-AS1
4 0.851 0.040 2 166058651 missense variant C/A;T snv 0.700 0
dbSNP: rs121918765
rs121918765
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 165992284 missense variant A/G;T snv 0.700 0
dbSNP: rs146515561
rs146515561
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166046869 stop gained G/A;C snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs1553520318
rs1553520318
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165992101 missense variant C/T snv 0.700 0
dbSNP: rs1553522321
rs1553522321
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165998052 frameshift variant G/- delins 0.700 0
dbSNP: rs1553522517
rs1553522517
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165998176 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1553523142
rs1553523142
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165999728 stop gained T/A snv 0.700 0
dbSNP: rs1553525036
rs1553525036
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166002570 frameshift variant ATCAGTATGATTA/- delins 0.700 0
dbSNP: rs1553525210
rs1553525210
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166002647 missense variant G/A snv 0.700 0
dbSNP: rs1553529426
rs1553529426
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166009724 frameshift variant T/- del 0.700 0