rs121918524, PHF8

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.
Siderius X-linked mental retardation syndrome
5 0.821 0.179 X 54011232 missense variant A/G snp 0.800 8 2007 2010
Cleft palate and bilateral cleft lip
2 0.821 0.179 X 54011232 missense variant A/G snp 0.010 1.000 1 2010 2010
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
2 0.821 0.179 X 54011232 missense variant A/G snp 0.010 1.000 1 2010 2010
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
53 0.821 0.179 X 54011232 missense variant A/G snp 0.010 1.000 1 2010 2010
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
29 0.821 0.179 X 54011232 missense variant A/G snp 0.010 1.000 1 2010 2010
Mental Retardation, X-Linked
CUI: C1136249
Disease: Mental Retardation, X-Linked
11 0.821 0.179 X 54011232 missense variant A/G snp 0.010 1.000 1 2010 2010