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: rs398123593
rs398123593
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 166002537 stop gained G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs727504136
rs727504136
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 166012255 stop gained G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs794726752
rs794726752
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 165996021 stop gained G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1135401736
rs1135401736
SCN1B
3 0.882 0.040 19 35033664 missense variant C/T snv 7.0E-06 0.020 1.000 2 2009 2012
dbSNP: rs766910280
rs766910280
SCN1B
3 0.882 0.040 19 35033556 missense variant C/T snv 1.2E-05 4.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs931949929
rs931949929
SCN1B
3 0.882 0.040 19 35033607 missense variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs781204054
rs781204054
SCN2A
2 0.925 0.040 2 165312036 missense variant T/G snv 5.2E-05 7.0E-06 0.010 1.000 1 2015 2015