Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs1562159088
WASF1
1.000 0.040 6 110100644 stop gained G/A snv 2
rs786205232
KCNA2
0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 3
rs886041874
PHGDH
1.000 0.040 1 119721323 splice donor variant T/C snv 4.0E-06 2
rs764618040
LOC105378936 ; PHGDH
1.000 0.040 1 119726868 missense variant C/T snv 1.6E-05 2.1E-05 2
rs587776508
C12orf65 ; CDK2AP1
0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06 4
rs1057519538
STXBP1
1.000 0.040 9 127651622 inframe deletion AAA/- del 1
rs1057518985
STXBP1
1.000 0.040 9 127673233 missense variant C/A;T snv 1
rs796053366
STXBP1
0.925 0.040 9 127673250 stop gained C/T snv 2
rs796053367
STXBP1
0.925 0.040 9 127675909 missense variant C/T snv 2
rs1057519539
STXBP1
1.000 0.040 9 127678479 stop gained G/A;T snv 1
rs1057519537
STXBP1
1.000 0.040 9 127682423 stop gained G/A snv 1
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs796053335
SPTAN1
1.000 0.040 9 128632280 protein altering variant -/GCATGC delins 1
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
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 12
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 8
rs1060499553
GABRA1
0.827 0.040 5 161890983 missense variant G/A snv 2
rs879253748
GABRA1
0.882 0.040 5 161897251 frameshift variant C/- del 5
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
rs1057518801
SCN3A
0.851 0.080 2 165130238 missense variant A/G snv 3
rs1553567473
SCN2A
0.925 0.040 2 165309193 missense variant A/G snv 2