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: rs12987787
rs12987787
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166001881 intron variant T/C snv 0.700 1.000 1 2014 2014
dbSNP: rs2212656
rs2212656
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166144333 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs121917993
rs121917993
SCN1A ; SCN1A-AS1 ; LOC102724058
4 0.851 0.040 2 165994212 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs3812718
rs3812718
SCN1A ; SCN1A-AS1
8 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.010 1.000 1 2012 2012