Disease: Absent speech
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs759317757
OTUD6B
0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 12
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins 10
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs1131692228
ACTL6B
0.925 0.160 7 100646637 missense variant C/T snv 5
rs377619533
ASXL3
1.000 18 33743312 stop gained C/A;T snv 2.8E-05 5