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: rs1085308044
rs1085308044
0.882 0.120 10 87864504 missense variant A/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1085308047
rs1085308047
0.827 0.160 10 87864509 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0