Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs118192236
LOC105372724 ; KCNQ2
0.851 0.080 20 63413472 stop gained G/A;C snv 4
rs118192226
KCNQ2
0.925 0.040 20 63415086 stop gained G/A;T snv 4.2E-06 3
rs138877187
SCN1A-AS1 ; SCN1A
0.882 0.080 2 166045081 stop gained G/A;C;T snv 7.6E-05 3
rs398122854
ARX
0.882 0.040 X 25015657 stop gained G/C snv 3
rs398123593
SCN1A-AS1 ; LOC102724058 ; SCN1A
0.882 0.040 2 166002537 stop gained G/A snv 3
rs794726730
SCN1A-AS1 ; SCN1A
0.882 0.080 2 166042334 stop gained G/A snv 3
rs1554965669
SLC25A22
0.925 0.040 11 792888 stop gained G/A snv 2
rs542420576
SCN1A ; SCN1A-AS1 ; LOC102724058
0.925 0.040 2 166036371 stop gained G/A;T snv 4.1E-06 2
rs587777420
NECAP1
0.925 0.040 12 8089982 stop gained C/T snv 7.0E-06 2
rs794726697
SCN1A-AS1 ; SCN1A
0.925 0.040 2 166038129 stop gained G/A;T snv 2
rs794726736
SCN1A ; SCN1A-AS1
0.925 0.040 2 166043974 stop gained G/A;T snv 4.0E-06 2
rs794726743
SCN1A-AS1 ; SCN1A
0.925 0.040 2 166041385 stop gained C/A;T snv 2
rs796053366
STXBP1
0.925 0.040 9 127673250 stop gained C/T snv 2
rs1060501722
STXBP1
1.000 0.040 9 127678505 stop gained G/A;C snv 1
rs1060502188
SCN1A ; LOC102724058 ; SCN1A-AS1
1.000 0.040 2 166012166 stop gained A/C snv 1
rs146515561
SCN1A-AS1 ; SCN1A
1.000 0.040 2 166046869 stop gained G/A;C snv 2.0E-05 2.1E-05 1
rs1553523142
SCN1A-AS1 ; LOC102724058 ; SCN1A
1.000 0.040 2 165999728 stop gained T/A snv 1
rs1553544559
SCN1A ; SCN1A-AS1
1.000 0.040 2 166043754 stop gained A/T snv 1
rs1553544821
SCN1A ; SCN1A-AS1
1.000 0.040 2 166043917 stop gained C/A snv 1
rs1553548096
SCN1A ; SCN1A-AS1
1.000 0.040 2 166048906 stop gained A/C;T snv 1
rs747376305
LOC105372721 ; KCNQ2
1.000 0.040 20 63433841 stop gained G/A;C snv 4.0E-06 1.4E-05 1
rs751170778
STXBP1
1.000 0.040 9 127668083 stop gained T/C;G snv 4.0E-06 1
rs761333438
LOC102724058 ; SCN1A ; SCN1A-AS1
1.000 0.040 2 165994191 stop gained C/A;T snv 1.2E-05 1
rs936639741
SLC25A22
1.000 0.040 11 793551 stop gained G/A snv 1
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64