Gene: SCN1A ×
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: rs121917995
rs121917995
SCN1A ; SCN1A-AS1 ; LOC102724058
1 2 165992368 missense variant C/T snv 0.700 1.000 19 1997 2014
dbSNP: rs1553540213
rs1553540213
SCN1A ; SCN1A-AS1 ; LOC102724058
1 2 166036185 frameshift variant C/- del 0.700 1.000 19 1997 2014