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: rs1558886168
rs1558886168
SCN2A
2 0.925 0.080 2 165389122 frameshift variant C/- del 0.700 0
dbSNP: rs1559352550
rs1559352550
SCN2A
2 0.925 0.080 2 165309404 missense variant A/G snv 0.700 0
dbSNP: rs1559353540
rs1559353540
SCN2A
2 0.925 0.080 2 165310586 splice donor variant AGGATAAAAG/- delins 0.700 0
dbSNP: rs181327458
rs181327458
SCN2A
2 0.925 0.080 2 165310448 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs387906683
rs387906683
SCN2A
3 0.882 0.040 2 165297053 stop gained C/T snv 0.700 0
dbSNP: rs746163041
rs746163041
SCN2A
2 0.925 0.080 2 165344869 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs755003900
rs755003900
SCN2A
1 1.000 2 165323304 missense variant G/A snv 0.700 0
dbSNP: rs776206684
rs776206684
SCN2A
1 1.000 2 165313924 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs796053115
rs796053115
SCN2A
1 1.000 2 165344627 missense variant G/A snv 0.700 0
dbSNP: rs796053119
rs796053119
SCN2A
1 1.000 2 165344707 missense variant G/C snv 0.700 0
dbSNP: rs796053124
rs796053124
SCN2A
4 0.882 0.080 2 165354232 missense variant G/T snv 0.800 0
dbSNP: rs796053130
rs796053130
SCN2A
2 0.925 0.040 2 165373322 missense variant C/T snv 0.700 0
dbSNP: rs796053131
rs796053131
SCN2A
1 1.000 2 165374689 missense variant T/A snv 0.700 0
dbSNP: rs796053134
rs796053134
SCN2A
5 0.827 0.080 2 165374737 missense variant T/C snv 0.700 0
dbSNP: rs796053162
rs796053162
SCN2A
3 0.882 0.080 2 165389123 missense variant G/A snv 0.700 0
dbSNP: rs796053171
rs796053171
SCN2A
1 1.000 2 165308795 splice donor variant G/A;T snv 0.700 0
dbSNP: rs796053178
rs796053178
SCN2A
2 0.925 0.080 2 165313732 stop gained C/G;T snv 0.700 0
dbSNP: rs796053183
rs796053183
SCN2A
1 1.000 2 165314014 missense variant A/C;G snv 0.700 0
dbSNP: rs796053197
rs796053197
SCN2A
2 0.925 0.080 2 165344801 missense variant C/T snv 0.700 0
dbSNP: rs797045943
rs797045943
SCN2A
1 1.000 2 165388647 missense variant T/C snv 0.700 0
dbSNP: rs869312664
rs869312664
SCN2A
4 0.925 0.160 2 165386920 stop gained G/A;T snv 0.700 0
dbSNP: rs879253767
rs879253767
SCN2A
6 0.882 0.080 2 165313738 frameshift variant T/- delins 0.700 0
dbSNP: rs796053157
rs796053157
SCN2A
1 1.000 2 165388692 missense variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1553579225
rs1553579225
SCN2A
2 0.925 0.080 2 165344558 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs190111194
rs190111194
SCN2A
2 0.925 0.080 2 165373330 missense variant C/T snv 4.0E-06 0.700 1.000 1 2016 2016