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: rs1559193213
rs1559193213
SCN1A ; SCN1A-AS1 ; LOC102724058
11 0.807 0.160 2 166036149 frameshift variant -/G delins 0.700 0
dbSNP: rs387906739
rs387906739
DYNC1H1 ; LOC107984661
3 0.882 0.200 14 102039416 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs587783526
rs587783526
DCX
1 1.000 0.080 X 111410229 missense variant A/C snv 0.700 0
dbSNP: rs587783537
rs587783537
DCX
2 0.925 0.080 X 111410109 missense variant A/C snv 0.700 0
dbSNP: rs587783584
rs587783584
DCX
1 1.000 0.080 X 111333113 missense variant A/C snv 0.700 0
dbSNP: rs587783521
rs587783521
DCX
2 0.925 0.080 X 111410271 missense variant A/G snv 0.700 0
dbSNP: rs587783536
rs587783536
DCX
1 1.000 0.080 X 111410127 missense variant A/G snv 0.700 0
dbSNP: rs587783539
rs587783539
DCX
1 1.000 0.080 X 111410397 start lost A/G snv 0.700 0
dbSNP: rs587783551
rs587783551
DCX
1 1.000 0.080 X 111401283 missense variant A/G snv 0.700 0
dbSNP: rs587783569
rs587783569
DCX
1 1.000 0.080 X 111401099 missense variant A/G snv 0.700 0
dbSNP: rs587783574
rs587783574
DCX
2 0.925 0.080 X 111401054 missense variant A/G snv 0.700 0
dbSNP: rs587783580
rs587783580
DCX
1 1.000 0.080 X 111401012 missense variant A/G snv 0.700 0
dbSNP: rs1556405129
rs1556405129
DCX
2 0.925 0.080 X 111410209 missense variant A/T snv 0.700 1.000 1 2018 2018
dbSNP: rs587783546
rs587783546
DCX
1 1.000 0.080 X 111401318 missense variant A/T snv 0.700 0
dbSNP: rs587783561
rs587783561
DCX
1 1.000 0.080 X 111401144 missense variant A/T snv 0.700 0
dbSNP: rs587783582
rs587783582
DCX
1 1.000 0.080 X 111333135 missense variant A/T snv 0.700 0
dbSNP: rs587783556
rs587783556
DCX
1 1.000 0.080 X 111401191 frameshift variant ACTGTTGCTGC/- delins 0.700 0
dbSNP: rs765275884
rs765275884
ASPM
2 0.925 0.120 1 197143279 frameshift variant AT/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1558005340
rs1558005340
ATP1A2
4 0.851 0.280 1 160127638 frameshift variant C/- del 0.700 1.000 1 2020 2020
dbSNP: rs587783545
rs587783545
DCX
1 1.000 0.080 X 111401328 splice acceptor variant C/- delins 0.700 0
dbSNP: rs587783578
rs587783578
DCX
1 1.000 0.080 X 111401025 frameshift variant C/- delins 0.700 0
dbSNP: rs587783523
rs587783523
DCX
2 0.925 0.080 X 111410249 missense variant C/A snv 0.700 0
dbSNP: rs587783550
rs587783550
DCX
1 1.000 0.080 X 111401286 stop gained C/A snv 0.700 0
dbSNP: rs587783559
rs587783559
DCX
2 0.925 0.080 X 111401162 missense variant C/A snv 0.700 0
dbSNP: rs587783573
rs587783573
DCX
1 1.000 0.080 X 111401067 missense variant C/A snv 0.700 0