Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1567815105
rs1567815105
0.807 0.240 16 57660794 frameshift variant -/T delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs587776625
rs587776625
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0