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
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 26
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25