Disease: Developmental regression
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19