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: rs1553920379
rs1553920379
PPP3CA
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs1555850842
rs1555850842
KCNQ2
1 1.000 0.040 20 63407136 frameshift variant -/G delins 0.700 0
dbSNP: rs1057519542
rs1057519542
CDKL5
1 1.000 0.040 X 18604372 frameshift variant -/GACC delins 0.700 0
dbSNP: rs1057518759
rs1057518759
CDKL5
2 1.000 0.040 X 18604394 frameshift variant -/GC delins 0.700 0
dbSNP: rs796053335
rs796053335
SPTAN1
1 1.000 0.040 9 128632280 protein altering variant -/GCATGC delins 0.700 0
dbSNP: rs786200962
rs786200962
CACNA1A
7 0.827 0.120 19 13298768 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs1569017337
rs1569017337
KCNB1 ; LOC105372649
1 1.000 0.040 20 49374703 frameshift variant A/- del 0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs387906685
rs387906685
SCN2A
2 0.925 0.040 2 165380702 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1057518801
rs1057518801
SCN3A
5 0.851 0.080 2 165130238 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs202151337
rs202151337
SCN8A
4 0.925 0.160 12 51806788 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs796053174
rs796053174
SCN2A
1 1.000 0.040 2 165310515 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519540
rs1057519540
SCN8A
2 0.925 0.160 12 51768895 missense variant A/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: rs1555889108
rs1555889108
KCNB1 ; LOC105372649
2 0.925 0.040 20 49374559 missense variant A/G 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: rs796052957
rs796052957
SCN1A ; SCN1A-AS1
3 0.925 0.040 2 166054735 missense variant A/G snv 0.700 0
dbSNP: rs1555703272
rs1555703272
SLC25A10
4 0.925 0.080 17 81715568 stop gained A/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1057519536
rs1057519536
KCNQ2
2 0.925 0.040 20 63442424 missense variant A/T snv 0.700 0
dbSNP: rs1553525325
rs1553525325
SCN1A ; SCN1A-AS1 ; LOC102724058
9 0.807 0.120 2 166002716 missense variant A/T 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: rs1057519538
rs1057519538
STXBP1
1 1.000 0.040 9 127651622 inframe deletion AAA/- del 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: rs1135401734
rs1135401734
HNRNPU ; SNORA100
1 1.000 0.040 1 244855505 frameshift variant AG/- del 0.700 1.000 1 2017 2017
dbSNP: rs1569219844
rs1569219844
CDKL5
1 1.000 0.040 X 18604845 frameshift variant AG/- del 0.700 0