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: rs1057519269
rs1057519269
AP3B2 ; CPEB1-AS1
2 0.925 0.040 15 82679729 splice region variant C/T snv 0.700 0
dbSNP: rs1057519270
rs1057519270
AP3B2 ; CPEB1-AS1
2 0.925 0.040 15 82680174 splice donor variant C/G snv 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: rs121909323
rs121909323
CACNA1A
8 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs786200962
rs786200962
CACNA1A
7 0.827 0.120 19 13298768 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs1064794262
rs1064794262
CACNA1A
3 0.925 0.040 19 13303831 frameshift variant CT/- del 0.700 0
dbSNP: rs1485894376
rs1485894376
CACNA2D2
1 1.000 0.040 3 50375876 missense variant C/G;T snv 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: rs1057518759
rs1057518759
CDKL5
2 1.000 0.040 X 18604394 frameshift variant -/GC delins 0.700 0
dbSNP: rs1057519542
rs1057519542
CDKL5
1 1.000 0.040 X 18604372 frameshift variant -/GACC delins 0.700 0
dbSNP: rs1569219844
rs1569219844
CDKL5
1 1.000 0.040 X 18604845 frameshift variant AG/- del 0.700 0
dbSNP: rs267608501
rs267608501
CDKL5
3 0.882 0.160 X 18587986 missense variant C/T snv 0.700 0
dbSNP: rs786204967
rs786204967
CDKL5
2 1.000 0.040 X 18604169 frameshift variant AG/- delins 0.700 0
dbSNP: rs1043614377
rs1043614377
CNNM2
2 1.000 0.040 10 103049727 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs199476123
rs199476123
COX1 ; ND1 ; ND2
3 0.882 0.200 MT 3946 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
10 0.827 0.160 9 128203609 missense variant G/A snv 0.700 0
dbSNP: rs886039903
rs886039903
FGF12
6 0.807 0.200 3 192335434 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057518816
rs1057518816
FOLR1
1 1.000 0.040 11 72195389 missense variant G/A snv 0.700 0
dbSNP: rs587777308
rs587777308
GABRA1
14 0.763 0.040 5 161873196 missense variant G/A snv 0.020 1.000 2 2016 2019
dbSNP: rs1060499553
rs1060499553
GABRA1
6 0.827 0.040 5 161890983 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs727503940
rs727503940
GABRA1
1 1.000 0.040 5 161882638 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs747138999
rs747138999
GABRA1
2 1.000 0.040 5 161895753 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs796052491
rs796052491
GABRA1
4 0.851 0.040 5 161890982 missense variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs796052493
rs796052493
GABRA1
4 0.851 0.040 5 161895668 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs879253748
rs879253748
GABRA1
5 0.882 0.040 5 161897251 frameshift variant C/- del 0.700 0