rs1556955128, HUWE1

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.
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.882 0.240 X 53573795 missense variant A/C snv 0.700 0
Mental Retardation, X-Linked, Syndromic, Turner Type
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
25 0.882 0.240 X 53573795 missense variant A/C snv 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.882 0.240 X 53573795 missense variant A/C snv 0.700 0