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: rs1057519529
rs1057519529
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166043864 missense variant C/G snv 0.700 0
dbSNP: rs1553525325
rs1553525325
SCN1A ; SCN1A-AS1 ; LOC102724058
9 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
dbSNP: rs794726754
rs794726754
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 165992262 frameshift variant ACAA/- delins 0.700 0
dbSNP: rs796052957
rs796052957
SCN1A ; SCN1A-AS1
3 0.925 0.040 2 166054735 missense variant A/G snv 0.700 0
dbSNP: rs796053083
rs796053083
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165994177 frameshift variant AA/-;A delins 0.700 0