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: rs121918807
rs121918807
SCN1A ; SCN1A-AS1 ; LOC102724058
5 0.851 0.080 2 165994275 missense variant G/A snv 7.2E-05 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs373780066
rs373780066
SCN2A
1 1.000 0.040 2 165354655 missense variant T/C snv 0.010 1.000 1 2012 2012