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: rs121917753
rs121917753
SCN2A
1 1.000 0.080 2 165373331 missense variant G/A;T snv 0.810 1.000 16 2001 2018
dbSNP: rs121917751
rs121917751
SCN2A
2 0.925 0.080 2 165344666 missense variant G/A snv 0.800 1.000 17 2001 2018
dbSNP: rs121917752
rs121917752
SCN2A
2 0.925 0.080 2 165309414 missense variant G/A snv 0.800 1.000 17 2001 2018
dbSNP: rs121917748
rs121917748
SCN2A
4 0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05 0.800 1.000 16 2001 2018
dbSNP: rs121917749
rs121917749
SCN2A
1 1.000 0.080 2 165374700 missense variant C/T snv 0.800 1.000 16 2001 2018
dbSNP: rs121917750
rs121917750
SCN2A
2 0.925 0.080 2 165386881 missense variant C/G snv 0.800 1.000 16 2001 2018
dbSNP: rs121917754
rs121917754
SCN2A
1 1.000 0.080 2 165354279 missense variant C/A snv 0.800 1.000 16 2001 2018
dbSNP: rs1553463119
rs1553463119
SCN2A
1 1.000 0.080 2 165386960 missense variant A/G snv 0.800 1.000 16 2001 2018
dbSNP: rs387906687
rs387906687
SCN2A
1 1.000 0.080 2 165310379 missense variant A/G snv 0.800 1.000 16 2001 2018
dbSNP: rs767224097
rs767224097
SCN2A
1 1.000 0.080 2 165388729 missense variant A/C snv 4.0E-06 0.700 1.000 15 2001 2018
dbSNP: rs796053126
rs796053126
SCN2A
2 0.925 0.080 2 165354267 stop gained G/A;T snv 0.700 1.000 5 2013 2017
dbSNP: rs794727152
rs794727152
SCN2A
2 0.925 0.080 2 165342465 missense variant G/A snv 0.700 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: 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
dbSNP: rs387906684
rs387906684
SCN2A
4 0.851 0.120 2 165367327 stop gained G/A;T snv 0.700 1.000 1 2009 2009
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: rs1057520413
rs1057520413
SCN2A
1 1.000 0.080 2 165310406 missense variant G/A snv 0.700 0
dbSNP: rs1060503101
rs1060503101
SCN2A
3 0.925 0.080 2 165388782 missense variant C/T snv 0.700 0
dbSNP: rs1060503102
rs1060503102
SCN2A
2 0.925 0.080 2 165388682 stop gained C/T snv 0.700 0
dbSNP: rs1553461662
rs1553461662
SCN2A
2 0.925 0.080 2 165377611 frameshift variant -/T delins 0.700 0
dbSNP: rs1553462227
rs1553462227
SCN2A
2 0.925 0.080 2 165381148 missense variant T/C snv 0.700 0
dbSNP: rs1553463513
rs1553463513
SCN2A
1 1.000 0.080 2 165388923 missense variant G/C snv 0.700 0