rs121434612, PAK3

N. diseases: 2
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 30
CUI: C0796237
Disease: Mental Retardation, X-Linked 30
6 1.000 0.080 X 111142119 missense variant C/T snv 0.800 0
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 1.000 0.080 X 111142119 missense variant C/T snv 0.010 1.000 1 2000 2000