rs121434613, PAK3

N. diseases: 4
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 0.882 0.240 X 111194402 missense variant C/A snv 0.800 0
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.882 0.240 X 111194402 missense variant C/A snv 0.020 1.000 2 2003 2020
Congenital contractural arachnodactyly
CUI: C0220668
Disease: Congenital contractural arachnodactyly
48 0.882 0.240 X 111194402 missense variant C/A snv 0.010 1.000 1 2020 2020
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.882 0.240 X 111194402 missense variant C/A snv 0.010 1.000 1 2003 2003