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: rs118192236
rs118192236
KCNQ2 ; LOC105372724
4 0.851 0.080 20 63413472 stop gained G/A;C snv 0.700 1.000 3 2003 2016
dbSNP: rs138877187
rs138877187
SCN1A ; SCN1A-AS1
3 0.882 0.080 2 166045081 stop gained G/A;C;T snv 7.6E-05 0.700 1.000 3 2006 2010
dbSNP: rs1553548096
rs1553548096
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166048906 stop gained A/C;T snv 0.700 1.000 2 2009 2015
dbSNP: rs398123593
rs398123593
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 166002537 stop gained G/A snv 0.700 1.000 2 2002 2014
dbSNP: rs796053366
rs796053366
STXBP1
2 0.925 0.040 9 127673250 stop gained C/T snv 0.700 1.000 2 2016 2016
dbSNP: rs398122854
rs398122854
ARX
3 0.882 0.040 X 25015657 stop gained G/C snv 0.010 1.000 1 2010 2010
dbSNP: rs542420576
rs542420576
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 166036371 stop gained G/A;T snv 4.1E-06 0.700 1.000 1 2011 2011
dbSNP: rs587777420
rs587777420
NECAP1
2 0.925 0.040 12 8089982 stop gained C/T snv 7.0E-06 0.710 1.000 1 2019 2019
dbSNP: rs1060501722
rs1060501722
STXBP1
1 1.000 0.040 9 127678505 stop gained G/A;C snv 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: rs118192226
rs118192226
KCNQ2
3 0.925 0.040 20 63415086 stop gained G/A;T snv 4.2E-06 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: rs1553523142
rs1553523142
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165999728 stop gained T/A snv 0.700 0
dbSNP: rs1553544559
rs1553544559
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166043754 stop gained A/T snv 0.700 0
dbSNP: rs1553544821
rs1553544821
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166043917 stop gained C/A snv 0.700 0
dbSNP: rs1554965669
rs1554965669
SLC25A22
2 0.925 0.040 11 792888 stop gained G/A snv 0.700 0
dbSNP: rs747376305
rs747376305
KCNQ2 ; LOC105372721
1 1.000 0.040 20 63433841 stop gained G/A;C snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs751170778
rs751170778
STXBP1
1 1.000 0.040 9 127668083 stop gained T/C;G snv 4.0E-06 0.700 0
dbSNP: rs761333438
rs761333438
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165994191 stop gained C/A;T snv 1.2E-05 0.700 0
dbSNP: rs794726697
rs794726697
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166038129 stop gained G/A;T snv 0.700 0
dbSNP: rs794726730
rs794726730
SCN1A ; SCN1A-AS1
3 0.882 0.080 2 166042334 stop gained G/A snv 0.700 0
dbSNP: rs794726736
rs794726736
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166043974 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs794726743
rs794726743
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166041385 stop gained C/A;T snv 0.700 0
dbSNP: rs936639741
rs936639741
SLC25A22
1 1.000 0.040 11 793551 stop gained G/A snv 0.700 0
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166046969 missense variant C/G;T snv 0.700 1.000 8 2003 2015