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: rs1060503102
rs1060503102
SCN2A
2 0.925 0.080 2 165388682 stop gained C/T snv 0.700 0
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: 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: 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
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: 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: 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