rs1557036757, HUWE1

N. diseases: 7
Source: CLINVAR ×
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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.925 0.240 X 53647375 missense variant G/A snv 0.700 0
Flat face
CUI: C1853241
Disease: Flat face
7 0.925 0.240 X 53647375 missense variant G/A snv 0.700 0
Mental Retardation, X-Linked, Syndromic, Turner Type
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
25 0.925 0.240 X 53647375 missense variant G/A snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 0.240 X 53647375 missense variant G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
417 0.925 0.240 X 53647375 missense variant G/A snv 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
62 0.925 0.240 X 53647375 missense variant G/A snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 0.240 X 53647375 missense variant G/A snv 0.700 0