Disease: Developmental regression
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv 10