rs797045140, IQSEC2

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.827 0.200 X 53238308 splice region variant TG/- delins 0.700 1.000 1 2016 2016
Learning Disabilities
CUI: C0751265
Disease: Learning Disabilities
5 0.827 0.200 X 53238308 splice region variant TG/- delins 0.700 1.000 1 2016 2016
Mental Retardation, X-Linked 1
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
29 0.827 0.200 X 53238308 splice region variant TG/- delins 0.700 1.000 1 2016 2016
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.827 0.200 X 53238308 splice region variant TG/- delins 0.700 1.000 1 2016 2016
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.827 0.200 X 53238308 splice region variant TG/- delins 0.700 1.000 1 2016 2016
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.827 0.200 X 53238308 splice region variant TG/- delins 0.700 1.000 1 2016 2016