Disease: Delayed speech and language development
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 28
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs886041936
HDAC8
0.827 0.120 X 72495210 stop gained G/A snv 14