rs122468181, UPF3B

N. diseases: 3
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.
Mental Retardation, X-Linked, Syndromic 14
5 0.925 0.200 X 119837771 stop gained G/A;T snv 0.700 0
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.925 0.200 X 119837771 stop gained G/A;T snv 0.010 1.000 1 2013 2013
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.925 0.200 X 119837771 stop gained G/A;T snv 0.010 1.000 1 2013 2013