Disease: Severe intellectual disability
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs869312685
ITPR1
0.807 0.240 3 4815135 missense variant G/A;C snv 11
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv 7
rs797045140
IQSEC2
0.827 0.200 X 53238308 splice region variant TG/- delins 6