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: rs794726759
rs794726759
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 165992342 stop gained G/A snv 0.030 1.000 3 2009 2018
dbSNP: rs121918811
rs121918811
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.080 2 165992306 missense variant G/A snv 7.0E-06 0.020 1.000 2 2013 2018
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: rs121917921
rs121917921
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.882 0.040 2 165991927 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs121918622
rs121918622
SCN1A ; SCN1A-AS1 ; LOC102724058
9 0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
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: rs121917984
rs121917984
SCN1A ; SCN1A-AS1
8 0.790 0.080 2 166052869 missense variant G/A;C snv 0.020 1.000 2 2019 2020