Disease: Delayed speech and language development
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554122123
CAMK2A
0.925 0.040 5 150251979 splice donor variant -/A delins 5
rs1554121671
SYNGAP1
1.000 6 33440746 frameshift variant -/AGGA delins 4
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1554122526
CAMK2A
0.882 0.040 5 150256811 missense variant A/G snv 9
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv 12
rs1569309484
RLIM
0.807 0.200 X 74591586 missense variant A/G snv 13
rs587782994
PURA
0.882 0.080 5 140114470 missense variant A/G snv 6
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins 6
rs1131692227
KDM5C
0.851 0.160 X 53194576 frameshift variant AGAGC/- delins 6
rs1057518918
ARID1B
0.882 0.160 6 157184329 frameshift variant C/- delins 6
rs1554123982
CAMK2A
0.925 0.040 5 150273157 splice acceptor variant C/- delins 7
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del 4
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs794727792
STXBP1
0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 8
rs587782997
PURA
0.925 0.080 5 140114964 stop gained C/G snv 5
rs886041097
NAA15
0.882 0.160 4 139386152 stop gained C/G snv 9
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 9
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs587782996
PURA
0.925 0.080 5 140114544 stop gained C/G;T snv 9.0E-06 5