rs121918523, PHF8

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.
Siderius X-linked mental retardation syndrome
CUI: C1846055
Disease: Siderius X-linked mental retardation syndrome
4 0.925 0.200 X 54016662 stop gained T/A snv 0.700 0
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.925 0.200 X 54016662 stop gained T/A snv 0.010 1.000 1 2007 2007
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.925 0.200 X 54016662 stop gained T/A snv 0.010 1.000 1 2007 2007