Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052571
GRIN2B ; LOC105369668
0.851 0.040 12 13608755 missense variant C/T snv 6
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv 5
rs1568070621
BPTF
1.000 0.040 17 67918746 frameshift variant AG/- delins 4
rs1057519440
GSPT2
1.000 0.040 X 51744647 missense variant G/A snv 3
rs587777162
EEF1A2
0.925 0.040 20 63495972 missense variant C/T snv 3
rs1559619762
FOXP1
1.000 0.040 3 70977827 splice donor variant C/G snv 2
rs1057518658
SCN2A
1.000 0.040 2 165331409 frameshift variant AC/- del 1
rs1057518993
IQSEC2
1.000 0.040 X 53243367 stop gained G/A snv 1
rs1057518999
FOXP1
1.000 0.040 3 70977826 splice donor variant A/G snv 1
rs1567574466
ANKRD11
1.000 0.040 16 89283404 stop gained A/T snv 1
rs7794745
CNTNAP2
0.851 0.040 7 146792514 intron variant A/T snv 0.49 1
rs797046134
ALDH1A3 ; LOC101927751
1.000 0.040 15 100914748 missense variant T/C snv 1
rs797046135
FOXN1
1.000 0.040 17 28524525 missense variant C/T snv 4.0E-06 1
rs1566446604
CHD8
0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 6
rs25409
LOC112268151 ; GABRB3
0.882 0.080 15 26773694 missense variant G/A snv 2.9E-03 3.5E-03 1
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1064794254
UPF3B
0.851 0.120 X 119841185 frameshift variant CT/- delins 6
rs794726827
SCN1A ; SCN1A-AS1
0.827 0.120 2 166054637 splice donor variant C/A;G;T snv 6
rs1555740394
PRR12
0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins 5
rs786205133
RLIM
0.882 0.120 X 74592248 missense variant T/C snv 4
rs1555144459
PKP2
0.925 0.120 12 32841038 frameshift variant -/A delins 3
rs2710102
CNTNAP2
0.790 0.120 7 147877298 intron variant A/G;T snv 1
rs869312966
SCN8A
0.827 0.120 12 51806345 missense variant G/T snv 1
rs879255652
SCN8A
0.807 0.120 12 51790425 stop gained G/A;T snv 1