rs1325394060, HUWE1

N. diseases: 9
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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 0.700 0
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 0.700 0
Mental Retardation, X-Linked, Syndromic, Turner Type
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
25 0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 0.700 0
Short stature, postnatal
CUI: C1835465
Disease: Short stature, postnatal
3 0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 0.700 0
Small hand
CUI: C0575802
Disease: Small hand
31 0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 0.700 0