rs121909362, GHR

N. diseases: 5
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.
Short Stature, Idiopathic, Autosomal
CUI: C1858656
Disease: Short Stature, Idiopathic, Autosomal
8 0.827 0.160 5 42699919 missense variant C/T snv 3.9E-03 4.1E-03 0.800 1.000 1 1995 1995
Laron Syndrome
CUI: C0271568
Disease: Laron Syndrome
26 0.827 0.160 5 42699919 missense variant C/T snv 3.9E-03 4.1E-03 0.710 1.000 10 1989 2007
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.827 0.160 5 42699919 missense variant C/T snv 3.9E-03 4.1E-03 0.010 1.000 1 2007 2007
Isolated somatotropin deficiency
CUI: C3714796
Disease: Isolated somatotropin deficiency
27 0.827 0.160 5 42699919 missense variant C/T snv 3.9E-03 4.1E-03 0.010 1.000 1 2007 2007
Somatotropin deficiency
CUI: C0271561
Disease: Somatotropin deficiency
14 0.827 0.160 5 42699919 missense variant C/T snv 3.9E-03 4.1E-03 0.010 1.000 1 2007 2007