Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs869312692
DDX3X
1.000 X 41343291 stop gained C/T snv 2
rs1131692270
POGZ
1.000 0.160 1 151412327 missense variant T/C snv 2
rs869312712
ARID1B
0.925 0.360 6 157084866 stop gained C/T snv 3
rs869312877
CHD2
0.925 0.160 15 92997299 frameshift variant -/G delins 3
rs869312693
DYNC1H1
0.925 0.080 14 102034135 missense variant C/T snv 3
rs869312700
FOXG1
0.925 0.200 14 28768100 missense variant G/A snv 3
rs1057519440
GSPT2
1.000 0.040 X 51744647 missense variant G/A snv 3
rs121917915
SCN1A-AS1 ; SCN1A ; LOC102724058
1.000 0.040 2 165994176 missense variant C/A snv 3
rs869312672
SMC3
0.925 0.200 10 110577847 missense variant G/A snv 3
rs869312678
TCF20
0.925 0.160 22 42209920 frameshift variant CA/- delins 3
rs777843533
ZMIZ1
0.925 0.160 10 79307487 frameshift variant -/C delins 3
rs1554904772
BRSK2
0.882 0.280 11 1443490 missense variant G/A snv 4
rs1554434435
CAMK2B
1.000 7 44284206 stop gained G/A snv 4
rs752738546
DDX3X
1.000 X 41343802 stop gained G/A;T snv 5.6E-06 4
rs1085307451
DHX30 ; MIR1226
0.925 0.160 3 47848246 missense variant C/T snv 4
rs766858016
DNMT3A
0.882 0.200 2 25247710 stop gained T/A;G snv 4.0E-06 4
rs869312708
DYRK1A
1.000 21 37506191 stop gained C/T snv 4
rs768126403
EDNRB
1.000 0.080 13 77918517 stop gained G/A;T snv 4
rs1553798675
FGF12
0.925 0.080 3 192335441 missense variant C/T snv 4
rs869312699
GRIK4
0.925 0.160 11 120986102 protein altering variant CTGGCGCAGGAGGCC/GCT delins 4
rs534517447
GRIK4 ; LOC101929208
0.925 0.160 11 120956935 missense variant G/A snv 2.9E-05 7.0E-06 4
rs1565091862
KCNMA1-AS1 ; KCNMA1
0.925 0.160 10 76944829 missense variant T/C snv 4
rs1555247805
MED13L
0.925 0.160 12 116008442 frameshift variant A/- del 4
rs147682682
MITF
1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05 4
rs878855328
MTOR
0.882 0.120 1 11117039 missense variant C/T snv 4