rs121917883, GHSR

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.
Short Stature, Idiopathic, Autosomal
CUI: C1858656
Disease: Short Stature, Idiopathic, Autosomal
8 0.851 0.160 3 172447803 missense variant G/A;T snv 2.8E-05 0.800 1.000 2 2006 2009
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.851 0.160 3 172447803 missense variant G/A;T snv 2.8E-05 0.700 1.000 4 2006 2016
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.851 0.160 3 172447803 missense variant G/A;T snv 2.8E-05 0.010 1.000 1 2009 2009
Pituitary dwarfism
CUI: C0013338
Disease: Pituitary dwarfism
12 0.851 0.160 3 172447803 missense variant G/A;T snv 2.8E-05 0.010 1.000 1 2009 2009