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: rs28935498
rs28935498
0.925 0.080 X 54470182 missense variant G/A snv 3.1E-04 3.3E-04
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2002 2002