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: rs1057519523
rs1057519523
SCN2A
1 1.000 2 165373342 missense variant A/G snv 0.700 0
dbSNP: rs1057519524
rs1057519524
SCN2A
2 0.925 0.040 2 165386837 missense variant T/C snv 0.700 0
dbSNP: rs1057519526
rs1057519526
SCN2A
2 0.925 0.040 2 165344679 missense variant C/T snv 0.800 0
dbSNP: rs1057519527
rs1057519527
SCN2A
2 0.925 0.040 2 165374743 missense variant G/A snv 0.700 0
dbSNP: rs1057519528
rs1057519528
SCN2A
2 0.925 0.040 2 165310376 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: rs121917751
rs121917751
SCN2A
2 0.925 0.080 2 165344666 missense variant G/A snv 0.700 1.000 2 2004 2018
dbSNP: rs121917752
rs121917752
SCN2A
2 0.925 0.080 2 165309414 missense variant G/A snv 0.700 1.000 3 2004 2018
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: rs147522594
rs147522594
SCN2A
1 1.000 2 165386759 missense variant G/C snv 8.4E-04 3.4E-04 0.700 0
dbSNP: rs1553461662
rs1553461662
SCN2A
2 0.925 0.080 2 165377611 frameshift variant -/T delins 0.700 0
dbSNP: rs1553462134
rs1553462134
SCN2A
1 1.000 2 165380718 stop gained C/A;G;T snv 0.700 0
dbSNP: rs1553462227
rs1553462227
SCN2A
2 0.925 0.080 2 165381148 missense variant T/C snv 0.700 0
dbSNP: rs1553463516
rs1553463516
SCN2A
2 0.925 0.080 2 165388930 frameshift variant C/- delins 0.700 0
dbSNP: rs1553463676
rs1553463676
SCN2A
1 1.000 2 165389291 missense variant C/T snv 0.700 1.000 20 2009 2019
dbSNP: rs1553564139
rs1553564139
SCN2A
1 1.000 2 165295824 start lost A/T snv 0.700 0
dbSNP: rs1553564144
rs1553564144
SCN2A
1 1.000 2 165295834 stop gained C/G snv 0.700 0
dbSNP: rs1553567409
rs1553567409
SCN2A
2 0.925 0.080 2 165308794 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1553567473
rs1553567473
SCN2A
2 0.925 0.040 2 165309193 missense variant A/G snv 0.700 0
dbSNP: rs1553567561
rs1553567561
SCN2A
2 0.925 0.080 2 165309431 missense variant T/G snv 0.700 0
dbSNP: rs1553568045
rs1553568045
SCN2A
1 1.000 2 165310506 frameshift variant C/- delins 0.700 0
dbSNP: rs1553568927
rs1553568927
SCN2A
2 0.925 0.080 2 165313919 frameshift variant -/A delins 0.700 0
dbSNP: rs1553569054
rs1553569054
SCN2A
2 0.925 0.080 2 165314067 stop gained C/T snv 0.700 0
dbSNP: rs1553569662
rs1553569662
SCN2A
2 0.925 0.080 2 165315616 frameshift variant AGAA/- delins 0.700 0