rs1556910184, HUWE1

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, Syndromic, Turner Type
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
25 0.882 0.240 X 53534615 missense variant C/G snv 0.700 0
Secondary microcephaly
CUI: C0431352
Disease: Secondary microcephaly
20 0.882 0.240 X 53534615 missense variant C/G snv 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.882 0.240 X 53534615 missense variant C/G snv 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.882 0.240 X 53534615 missense variant C/G snv 0.700 0