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: rs796053126
rs796053126
SCN2A
2 0.925 0.080 2 165354267 stop gained G/A;T snv 0.800 1.000 5 2013 2017
dbSNP: rs794727152
rs794727152
SCN2A
2 0.925 0.080 2 165342465 missense variant G/A snv 0.800 1.000 4 2013 2017
dbSNP: rs796053138
rs796053138
SCN2A
2 0.925 0.080 2 165377645 stop gained C/G;T snv 0.700 1.000 2 2016 2017
dbSNP: rs1553567409
rs1553567409
SCN2A
2 0.925 0.080 2 165308794 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs796053156
rs796053156
SCN2A
2 0.925 0.080 2 165388685 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs869312663
rs869312663
SCN2A
5 0.882 0.200 2 165381114 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs121917752
rs121917752
SCN2A
2 0.925 0.080 2 165309414 missense variant G/A snv 0.700 1.000 3 2004 2018
dbSNP: rs121917751
rs121917751
SCN2A
2 0.925 0.080 2 165344666 missense variant G/A snv 0.700 1.000 2 2004 2018
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: rs1235044536
rs1235044536
SCN2A
1 1.000 2 165310331 missense variant A/T snv 4.0E-06 0.700 1.000 20 2009 2019
dbSNP: rs1553463676
rs1553463676
SCN2A
1 1.000 2 165389291 missense variant C/T snv 0.700 1.000 20 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: rs794727444
rs794727444
SCN2A
2 0.925 0.040 2 165389451 missense variant G/A;T snv 0.700 1.000 20 2009 2019
dbSNP: rs886041259
rs886041259
SCN2A
1 1.000 2 165386971 stop gained G/A;T snv 0.700 1.000 20 2009 2019