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: rs1135401734
rs1135401734
HNRNPU ; SNORA100
1 1.000 0.040 1 244855505 frameshift variant AG/- del 0.700 1.000 1 2017 2017
dbSNP: rs786200962
rs786200962
CACNA1A
7 0.827 0.120 19 13298768 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs1057518795
rs1057518795
WWOX
1 1.000 0.040 16 78432614 frameshift variant G/- del 0.700 0
dbSNP: rs1057519538
rs1057519538
STXBP1
1 1.000 0.040 9 127651622 inframe deletion AAA/- del 0.700 0
dbSNP: rs1064794262
rs1064794262
CACNA1A
3 0.925 0.040 19 13303831 frameshift variant CT/- del 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: rs587776508
rs587776508
CDK2AP1 ; C12orf65
4 0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06 0.700 0
dbSNP: rs879253748
rs879253748
GABRA1
5 0.882 0.040 5 161897251 frameshift variant C/- del 0.700 0
dbSNP: rs779453109
rs779453109
HNRNPU
1 1.000 0.040 1 244863648 frameshift variant GCCTTCCGCC/- delins 1.2E-05 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs1057518759
rs1057518759
CDKL5
2 1.000 0.040 X 18604394 frameshift variant -/GC delins 0.700 0
dbSNP: rs1057519000
rs1057519000
SLC35A2
1 1.000 0.040 X 48905400 frameshift variant CACTGCAGCC/- delins 0.700 0
dbSNP: rs1057519542
rs1057519542
CDKL5
1 1.000 0.040 X 18604372 frameshift variant -/GACC delins 0.700 0
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: rs536000212
rs536000212
TRIT1
1 1.000 0.040 1 39854050 frameshift variant G/- delins 3.2E-04 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: rs796053083
rs796053083
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165994177 frameshift variant AA/-;A delins 0.700 0
dbSNP: rs796053335
rs796053335
SPTAN1
1 1.000 0.040 9 128632280 protein altering variant -/GCATGC delins 0.700 0
dbSNP: rs879253767
rs879253767
SCN2A
6 0.882 0.080 2 165313738 frameshift variant T/- delins 0.700 0
dbSNP: rs121909674
rs121909674
GABRG2
8 0.790 0.080 5 162153132 stop gained C/T snv 0.030 1.000 3 2015 2017
dbSNP: rs1392120633
rs1392120633
SCN8A
2 1.000 0.040 12 51807223 missense variant C/T snv 4.0E-06 0.020 1.000 2 2019 2020
dbSNP: rs587777308
rs587777308
GABRA1
14 0.763 0.040 5 161873196 missense variant G/A snv 0.020 1.000 2 2016 2019
dbSNP: rs796053228
rs796053228
SCN8A
4 0.882 0.160 12 51807100 missense variant C/G;T snv 0.720 1.000 2 2019 2020