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: rs1553520227
rs1553520227
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165992006 missense variant C/G snv 0.700 1.000 4 2009 2016
dbSNP: rs1553524865
rs1553524865
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166002471 splice donor variant C/A snv 0.700 1.000 3 2007 2011
dbSNP: rs1553520320
rs1553520320
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165992108 missense variant A/G snv 0.700 1.000 2 2009 2015
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: rs1553560677
rs1553560677
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166073357 splice donor variant C/G snv 0.700 1.000 2 2007 2009
dbSNP: rs1553560740
rs1553560740
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166073405 inframe insertion -/ATC delins 0.700 1.000 2 2009 2015
dbSNP: rs1057518066
rs1057518066
KCNT1
1 1.000 0.040 9 135765732 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1553519872
rs1553519872
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165991521 frameshift variant A/- del 0.700 1.000 1 2016 2016
dbSNP: rs1553520029
rs1553520029
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165991678 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1553522331
rs1553522331
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165998061 missense variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs762434475
rs762434475
PRICKLE1
1 1.000 0.040 12 42465214 missense variant C/T snv 8.1E-06 1.4E-05 0.010 1.000 1 2018 2018
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: 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