Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
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
rs1057519440
GSPT2
1.000 0.040 X 51744647 missense variant G/A snv 3
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv 5
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1064793345
PTEN
0.752 0.240 10 87961039 missense variant T/C snv 10
rs1064794254
UPF3B
0.851 0.120 X 119841185 frameshift variant CT/- delins 6
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv 11
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins 6
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs113994098
POLG
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 9
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv 8
rs121917893
NLGN3
0.807 0.160 X 71167508 missense variant C/T snv 2
rs12877501
COL4A2
0.925 0.160 13 110512039 missense variant G/A;C snv 5.0E-04 4
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1555144459
PKP2
0.925 0.120 12 32841038 frameshift variant -/A delins 3
rs1555453538
POLG ; MIR6766
0.807 0.280 15 89326678 frameshift variant A/- delins 7
rs1555565492
RAI1
0.776 0.160 17 17795417 frameshift variant -/G delins 18