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: rs1569017148
rs1569017148
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374430 missense variant G/T snv 0.700 0
dbSNP: rs1569017174
rs1569017174
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374455 missense variant A/G snv 0.700 0
dbSNP: rs1569017205
rs1569017205
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374515 missense variant C/A snv 0.700 0
dbSNP: rs1569017257
rs1569017257
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374592 missense variant G/A snv 0.700 0
dbSNP: rs1569017337
rs1569017337
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374703 frameshift variant A/- del 0.700 0
dbSNP: rs1569219844
rs1569219844
CDKL5
1 1.000 0.040 X 18604845 frameshift variant AG/- del 0.700 0
dbSNP: rs201497300
rs201497300
ATP7B
2 0.925 0.160 13 51946337 missense variant C/T snv 4.6E-05 2.8E-05 0.700 0
dbSNP: rs267608501
rs267608501
CDKL5
3 0.882 0.160 X 18587986 missense variant C/T snv 0.700 0
dbSNP: rs375659415
rs375659415
USP19
1 1.000 0.040 3 49115844 missense variant C/A;T snv 8.1E-06 0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
23 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
dbSNP: rs536000212
rs536000212
TRIT1
1 1.000 0.040 1 39854050 frameshift variant G/- delins 3.2E-04 0.700 0
dbSNP: rs587776508
rs587776508
CDK2AP1 ; C12orf65
4 0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06 0.700 0
dbSNP: rs587777848
rs587777848
KCNB1 ; LOC105372649
3 0.882 0.040 20 49374519 missense variant G/C;T snv 0.700 0
dbSNP: rs747824231
rs747824231
VARS1
4 0.882 0.040 6 31782361 missense variant C/G;T snv 4.1E-06 0.700 0
dbSNP: rs759766243
rs759766243
WWOX
1 1.000 0.040 16 78109788 stop gained C/A;T snv 4.0E-06; 4.8E-05 0.700 0
dbSNP: rs763777257
rs763777257
VARS1
4 0.882 0.040 6 31785269 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs764618040
rs764618040
PHGDH ; LOC105378936
2 1.000 0.040 1 119726868 missense variant C/T snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs786204967
rs786204967
CDKL5
2 1.000 0.040 X 18604169 frameshift variant AG/- delins 0.700 0
dbSNP: rs794726754
rs794726754
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 165992262 frameshift variant ACAA/- delins 0.700 0
dbSNP: rs794727444
rs794727444
SCN2A
2 0.925 0.040 2 165389451 missense variant G/A;T snv 0.700 0
dbSNP: rs796052957
rs796052957
SCN1A ; SCN1A-AS1
3 0.925 0.040 2 166054735 missense variant A/G snv 0.700 0
dbSNP: rs796053083
rs796053083
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165994177 frameshift variant AA/-;A delins 0.700 0
dbSNP: rs796053130
rs796053130
SCN2A
2 0.925 0.040 2 165373322 missense variant C/T snv 0.700 0
dbSNP: rs796053216
rs796053216
SCN8A
4 0.851 0.160 12 51790401 stop gained G/A;T snv 0.700 0
dbSNP: rs796053335
rs796053335
SPTAN1
1 1.000 0.040 9 128632280 protein altering variant -/GCATGC delins 0.700 0