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: rs794726744
rs794726744
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 166013743 splice donor variant C/A;T snv 0.700 1.000 6 2003 2014
dbSNP: rs1553520439
rs1553520439
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 165992311 missense variant C/G snv 0.700 1.000 2 2009 2015
dbSNP: rs1559114303
rs1559114303
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 165996008 splice region variant C/G snv 0.700 1.000 1 2015 2015
dbSNP: rs794726763
rs794726763
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 165992053 missense variant C/G;T snv 0.700 1.000 5 2009 2017
dbSNP: rs1553549471
rs1553549471
SCN1A ; SCN1A-AS1
1 1.000 2 166051741 stop gained C/G;T snv 0.700 1.000 2 2009 2015
dbSNP: rs794726762
rs794726762
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166073353 splice region variant C/G;T snv 0.700 1.000 2 2006 2014
dbSNP: rs786205598
rs786205598
STXBP1
2 0.925 0.040 9 127668159 missense variant C/T snv 0.700 1.000 3 2015 2016
dbSNP: rs1553540503
rs1553540503
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 166036530 missense variant C/T snv 0.700 1.000 2 2003 2005
dbSNP: rs1553561016
rs1553561016
SCN1A ; SCN1A-AS1
1 1.000 2 166073619 start lost C/T snv 0.700 1.000 2 2009 2011
dbSNP: rs1559149128
rs1559149128
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 166013838 stop gained C/T snv 0.700 1.000 1 2002 2002
dbSNP: rs1564351103
rs1564351103
STXBP1
1 1.000 9 127665275 stop gained C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1568899375
rs1568899375
KCNQ2
1 1.000 20 63424207 splice acceptor variant C/T snv 0.700 1.000 1 2003 2003
dbSNP: rs587777420
rs587777420
NECAP1
2 0.925 0.040 12 8089982 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1559193050
rs1559193050
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 166036133 frameshift variant CA/- delins 0.700 0
dbSNP: rs1553560676
rs1553560676
SCN1A ; SCN1A-AS1
1 1.000 2 166073353 splice donor variant CTCACT/GGCA delins 0.700 1.000 2 2007 2009
dbSNP: rs1559225495
rs1559225495
SCN1A ; SCN1A-AS1
1 1.000 2 166046878 frameshift variant G/- delins 0.700 0
dbSNP: rs121918793
rs121918793
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 165991549 missense variant G/A snv 0.700 1.000 7 2002 2018
dbSNP: rs794726799
rs794726799
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166047668 stop gained G/A snv 0.700 1.000 3 2006 2016
dbSNP: rs1553521567
rs1553521567
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 165996118 splice acceptor variant G/A snv 0.700 1.000 2 2007 2009
dbSNP: rs1555869700
rs1555869700
KCNQ2
1 1.000 20 63438645 missense variant G/A snv 0.700 0
dbSNP: rs1559887808
rs1559887808
CACNA2D2
1 1.000 3 50377538 stop gained G/A snv 0.700 0
dbSNP: rs148442069
rs148442069
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166058574 missense variant G/A;C snv 6.8E-05 1.1E-04 0.700 1.000 3 2009 2015
dbSNP: rs1043031572
rs1043031572
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 166012205 stop gained G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs794726778
rs794726778
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166043878 stop gained G/A;C snv 0.700 1.000 1 2008 2008
dbSNP: rs886041715
rs886041715
GNAO1 ; DKFZP434H168 ; LOC283856
7 0.827 0.040 16 56192353 missense variant G/A;C;T snv 0.700 1.000 3 2015 2018