Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 8
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv 6
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv 6
rs879253748
GABRA1
0.882 0.040 5 161897251 frameshift variant C/- del 5
rs587776508
C12orf65 ; CDK2AP1
0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06 4
rs747824231
VARS1
0.882 0.040 6 31782361 missense variant C/G;T snv 4.1E-06 4
rs763777257
VARS1
0.882 0.040 6 31785269 stop gained G/A snv 4.0E-06 4
rs886041715
GNAO1 ; DKFZP434H168 ; LOC283856
0.827 0.040 16 56192353 missense variant G/A;C;T snv 4
rs1057518928
SOX5
1.000 0.040 12 23665471 missense variant G/A snv 3
rs1064794262
CACNA1A
0.925 0.040 19 13303831 frameshift variant CT/- del 3
rs1135401733
HNRNPU
1.000 0.040 1 244856757 stop gained G/A snv 3
rs1555889130
LOC105372649 ; KCNB1
0.882 0.040 20 49374644 missense variant G/A snv 3
rs587777057
GNAO1
0.827 0.040 16 56336744 missense variant G/A snv 3
rs587777848
LOC105372649 ; KCNB1
0.882 0.040 20 49374519 missense variant G/C;T snv 3
rs786205232
KCNA2
0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 3
rs796052957
SCN1A-AS1 ; SCN1A
0.925 0.040 2 166054735 missense variant A/G snv 3
rs1057516094
KCNQ2
0.925 0.040 20 63442420 missense variant G/A snv 2
rs1057516099
KCNQ2
0.925 0.040 20 63439624 missense variant C/T snv 2
rs1057518759
CDKL5
1.000 0.040 X 18604394 frameshift variant -/GC delins 2
rs1057519269
CPEB1-AS1 ; AP3B2
0.925 0.040 15 82679729 splice region variant C/T snv 2
rs1057519270
AP3B2 ; CPEB1-AS1
0.925 0.040 15 82680174 splice donor variant C/G snv 2
rs1057519524
SCN2A
0.925 0.040 2 165386837 missense variant T/C snv 2
rs1057519526
SCN2A
0.925 0.040 2 165344679 missense variant C/T snv 2
rs1057519527
SCN2A
0.925 0.040 2 165374743 missense variant G/A snv 2
rs1057519528
SCN2A
0.925 0.040 2 165310376 missense variant G/A snv 2