Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519270
AP3B2 ; CPEB1-AS1
0.925 0.040 15 82680174 splice donor variant C/G snv 2
rs201497300
ATP7B
0.925 0.160 13 51946337 missense variant C/T snv 4.6E-05 2.8E-05 2
rs587776508
C12orf65 ; CDK2AP1
0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06 4
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv 8
rs786200962
CACNA1A
0.827 0.120 19 13298768 frameshift variant A/- del 7
rs1064794262
CACNA1A
0.925 0.040 19 13303831 frameshift variant CT/- del 3
rs1485894376
CACNA2D2
1.000 0.040 3 50375876 missense variant C/G;T snv 1
rs267608501
CDKL5
0.882 0.160 X 18587986 missense variant C/T snv 3
rs1057518759
CDKL5
1.000 0.040 X 18604394 frameshift variant -/GC delins 2
rs786204967
CDKL5
1.000 0.040 X 18604169 frameshift variant AG/- delins 2
rs1057519542
CDKL5
1.000 0.040 X 18604372 frameshift variant -/GACC delins 1
rs1569219844
CDKL5
1.000 0.040 X 18604845 frameshift variant AG/- del 1
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs1057519269
CPEB1-AS1 ; AP3B2
0.925 0.040 15 82679729 splice region variant C/T snv 2
rs886039903
FGF12
0.807 0.200 3 192335434 missense variant C/T snv 4
rs1057518816
FOLR1
1.000 0.040 11 72195389 missense variant G/A snv 1
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 8
rs879253748
GABRA1
0.882 0.040 5 161897251 frameshift variant C/- del 5
rs1060499553
GABRA1
0.827 0.040 5 161890983 missense variant G/A snv 2
rs1057519549
GABRB3
0.925 0.040 15 26567655 missense variant G/A snv 2
rs1057519550
GABRB3
0.925 0.040 15 26621403 missense variant T/G snv 2
rs397514737
GABRG2
0.882 0.080 5 162149153 missense variant G/A snv 3
rs121909674
GABRG2
0.790 0.080 5 162153132 stop gained C/T snv 1
rs886041715
GNAO1 ; DKFZP434H168 ; LOC283856
0.827 0.040 16 56192353 missense variant G/A;C;T snv 4
rs587777057
GNAO1
0.827 0.040 16 56336744 missense variant G/A snv 3