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: rs1554778417
rs1554778417
STXBP1
2 0.925 0.040 9 127675802 splice acceptor variant A/G snv 0.700 1.000 2 2010 2016
dbSNP: rs1559140855
rs1559140855
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 2 166009842 splice acceptor variant C/A snv 0.700 1.000 2 2007 2009
dbSNP: rs1559238432
rs1559238432
SCN1A ; SCN1A-AS1
1 1.000 2 166051886 missense variant A/G snv 0.700 1.000 2 2009 2015
dbSNP: rs775918190
rs775918190
KCNQ2
2 0.925 20 63439610 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 2 2014 2017
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: rs794726816
rs794726816
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 166009843 splice acceptor variant T/C snv 0.700 1.000 2 2007 2009
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: rs1057518487
rs1057518487
SCN8A
1 1.000 12 51688775 missense variant T/C snv 0.700 1.000 1 2018 2018
dbSNP: rs121917981
rs121917981
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 165991510 missense variant A/C;G snv 0.700 1.000 1 2013 2013
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: 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: 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: rs121918764
rs121918764
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 165996053 stop gained A/C;G snv 0.700 0
dbSNP: rs1247507359
rs1247507359
GOT2
1 1.000 16 58716024 missense variant G/C snv 7.0E-06 0.700 0
dbSNP: rs1553546763
rs1553546763
SCN1A ; SCN1A-AS1
1 1.000 2 166046841 stop gained C/A snv 0.700 0
dbSNP: rs1554037381
rs1554037381
HCN1
1 1.000 5 45645333 missense variant T/A snv 0.700 0
dbSNP: rs1555869700
rs1555869700
KCNQ2
1 1.000 20 63438645 missense variant G/A snv 0.700 0
dbSNP: rs1559245847
rs1559245847
SCN1A ; SCN1A-AS1
1 1.000 2 166054683 missense variant A/G snv 0.700 0
dbSNP: rs1559249734
rs1559249734
SCN1A ; SCN1A-AS1
1 1.000 2 166056461 missense variant G/T snv 0.700 0
dbSNP: rs1559887808
rs1559887808
CACNA2D2
1 1.000 3 50377538 stop gained G/A snv 0.700 0
dbSNP: rs1564352002
rs1564352002
STXBP1
1 1.000 9 127668102 stop gained G/T snv 0.700 0
dbSNP: rs587777420
rs587777420
NECAP1
2 0.925 0.040 12 8089982 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs796053216
rs796053216
SCN8A
4 0.851 0.160 12 51790401 stop gained G/A;T snv 0.700 0