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: rs1553569739
rs1553569739
SCN2A
1 1.000 2 165315649 frameshift variant CA/- delins 0.700 0
dbSNP: rs1553569789
rs1553569789
SCN2A
2 0.925 0.080 2 165315687 stop gained A/T snv 0.700 0
dbSNP: rs1553579225
rs1553579225
SCN2A
2 0.925 0.080 2 165344558 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1553583659
rs1553583659
SCN2A
2 0.925 0.080 2 165354306 frameshift variant A/- delins 0.700 0
dbSNP: rs1558886061
rs1558886061
SCN2A
2 0.925 0.080 2 165389037 missense variant G/A snv 0.700 0
dbSNP: rs1558886146
rs1558886146
SCN2A
2 0.925 0.080 2 165389112 missense variant A/G snv 0.700 0
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: 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
dbSNP: rs387906683
rs387906683
SCN2A
3 0.882 0.040 2 165297053 stop gained C/T snv 0.700 0
dbSNP: rs387906684
rs387906684
SCN2A
4 0.851 0.120 2 165367327 stop gained G/A;T snv 0.800 1.000 21 2009 2019
dbSNP: rs387906685
rs387906685
SCN2A
2 0.925 0.040 2 165380702 missense variant A/C;G snv 0.800 1.000 20 2009 2019
dbSNP: rs387906686
rs387906686
SCN2A
23 0.742 0.320 2 165310413 missense variant C/A;T snv 0.800 1.000 20 2009 2019
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: rs794727152
rs794727152
SCN2A
2 0.925 0.080 2 165342465 missense variant G/A snv 0.800 1.000 4 2013 2017
dbSNP: rs794727444
rs794727444
SCN2A
2 0.925 0.040 2 165389451 missense variant G/A;T snv 0.700 1.000 20 2009 2019
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: rs796053126
rs796053126
SCN2A
2 0.925 0.080 2 165354267 stop gained G/A;T snv 0.800 1.000 5 2013 2017
dbSNP: rs796053130
rs796053130
SCN2A
2 0.925 0.040 2 165373322 missense variant C/T snv 0.700 0