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: rs121434618
rs121434618
0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
Mental Disorders 0.010 1.000 1 2019 2019