Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs797046134
ALDH1A3 ; LOC101927751
1.000 0.040 15 100914748 missense variant T/C snv 1
rs1567574466
ANKRD11
1.000 0.040 16 89283404 stop gained A/T snv 1
rs2710102
CNTNAP2
0.790 0.120 7 147877298 intron variant A/G;T snv 1
rs7794745
CNTNAP2
0.851 0.040 7 146792514 intron variant A/T snv 0.49 1
rs797046135
FOXN1
1.000 0.040 17 28524525 missense variant C/T snv 4.0E-06 1
rs1057518999
FOXP1
1.000 0.040 3 70977826 splice donor variant A/G snv 1
rs1057518993
IQSEC2
1.000 0.040 X 53243367 stop gained G/A snv 1
rs25409
LOC112268151 ; GABRB3
0.882 0.080 15 26773694 missense variant G/A snv 2.9E-03 3.5E-03 1
rs1057518658
SCN2A
1.000 0.040 2 165331409 frameshift variant AC/- del 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
rs200533370
SYN1
0.882 0.160 X 47574285 missense variant T/C snv 1.1E-03 1.4E-02 1
rs397514680
SYN1
0.925 0.160 X 47574336 missense variant C/G;T snv 1
rs1559619762
FOXP1
1.000 0.040 3 70977827 splice donor variant C/G snv 2
rs121917893
NLGN3
0.807 0.160 X 71167508 missense variant C/T snv 2
rs1569151204
TCF20
0.925 0.160 22 42213495 frameshift variant CA/- delins 2
rs62643608
CDKL5
0.882 0.200 X 18575390 frameshift variant T/- delins 3
rs768407867
CHRNA1
0.925 0.160 2 174748177 missense variant C/T snv 4.4E-05 3.5E-05 3
rs587777162
EEF1A2
0.925 0.040 20 63495972 missense variant C/T snv 3
rs1057519440
GSPT2
1.000 0.040 X 51744647 missense variant G/A snv 3
rs1555144459
PKP2
0.925 0.120 12 32841038 frameshift variant -/A delins 3
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 3
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs1569149539
TCF20
0.925 0.160 22 42212712 stop gained G/C snv 3
rs1568070621
BPTF
1.000 0.040 17 67918746 frameshift variant AG/- delins 4