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: rs879255597
rs879255597
0.882 0.080 18 58390667 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.010 1.000 1 2017 2017