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: rs2298771
rs2298771
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.925 0.040 2 166036278 missense variant C/T snv 0.73 0.74 0.010 1.000 1 2014 2014
dbSNP: rs3773364
rs3773364
SYN2
2 0.925 0.040 3 12148468 intron variant A/G snv 0.15 0.010 1.000 1 2010 2010
dbSNP: rs602594
rs602594
SCN2B
1 1.000 11 118169895 intron variant C/T snv 0.21 0.010 1.000 1 2014 2014