IQSEC2, IQ motif and Sec7 domain ArfGEF 2, 23096

N. diseases: 155; N. variants: 33
Disease: Mental Retardation, X-Linked 1 ×
Source: ALL
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: rs1556863340
rs1556863340 		1.000 0.080 X 53250900 frameshift variant G/- delins
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0