Gene: SCN1A ×
Source: CLINVAR ×
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: rs121917984
rs121917984
SCN1A ; SCN1A-AS1
6 0.790 0.080 2 166052869 missense variant G/A;C snv 0.700 0
dbSNP: rs794726775
rs794726775
SCN1A ; SCN1A-AS1
4 0.882 0.040 2 166039420 splice region variant T/A snv 0.700 0
dbSNP: rs794726827
rs794726827
SCN1A ; SCN1A-AS1
6 0.827 0.120 2 166054637 splice donor variant C/A;G;T snv 0.700 0