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: rs2076101
rs2076101
0.925 0.080 22 39049549 missense variant G/A snv 0.52 0.44
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
Mental Disorders 0.010 1.000 1 2016 2016