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: rs1057517958
rs1057517958
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165991711 missense variant G/A snv 0.700 0
dbSNP: rs1057518671
rs1057518671
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165991924 missense variant A/G;T snv 0.700 0
dbSNP: rs1057519531
rs1057519531
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166052945 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057519534
rs1057519534
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166013758 frameshift variant -/A delins 0.700 0
dbSNP: rs1057521079
rs1057521079
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.080 2 165992362 missense variant A/T snv 0.700 0
dbSNP: rs1057521080
rs1057521080
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166037903 missense variant G/A snv 0.700 0
dbSNP: rs1131691465
rs1131691465
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166047710 missense variant T/G snv 0.700 0
dbSNP: rs1131691675
rs1131691675
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165992296 missense variant A/G snv 0.700 0
dbSNP: rs1131691774
rs1131691774
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165992275 missense variant A/G snv 0.700 0
dbSNP: rs1131691775
rs1131691775
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166002623 stop lost T/G snv 0.700 0
dbSNP: rs121918817
rs121918817
SCN1A ; SCN1A-AS1
3 0.882 0.040 2 166045080 missense variant C/T snv 1.7E-03 1.5E-03 0.700 0
dbSNP: rs1553266166
rs1553266166
SNX27
1 1.000 0.040 1 151692548 frameshift variant -/A delins 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: rs1553543215
rs1553543215
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166041295 frameshift variant AA/- delins 0.700 0
dbSNP: rs1553544470
rs1553544470
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166043689 frameshift variant CTAT/- delins 0.700 0
dbSNP: rs1553551493
rs1553551493
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166054747 missense variant A/G snv 0.700 0
dbSNP: rs1553553462
rs1553553462
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166058615 missense variant G/C snv 0.700 0
dbSNP: rs1559149128
rs1559149128
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 166013838 stop gained C/T snv 0.700 0
dbSNP: rs201966711
rs201966711
SNX27
1 1.000 0.040 1 151683424 stop gained C/G;T snv 8.0E-06 0.700 0
dbSNP: rs368609628
rs368609628
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166015661 stop gained G/A;T snv 2.0E-05; 4.0E-06 7.0E-06 0.700 0
dbSNP: rs397514458
rs397514458
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165992269 missense variant G/T snv 0.700 0
dbSNP: rs566081370
rs566081370
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166013811 missense variant C/T snv 2.0E-05 0.700 0
dbSNP: rs745378416
rs745378416
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166038036 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs758871507
rs758871507
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166073419 missense variant A/C;G snv 8.0E-06 0.700 0
dbSNP: rs779184118
rs779184118
SCN1A ; SCN1A-AS1
2 0.925 0.080 2 166048928 missense variant C/A;T snv 4.0E-06 0.700 0