rs121909366, GHR

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.
Laron Syndrome
CUI: C0271568
Disease: Laron Syndrome
26 0.925 0.200 5 42699892 missense variant G/C snv 1.2E-05 0.810 1.000 10 1989 2004
Growth Hormone Insensitivity Syndrome
CUI: C4318479
Disease: Growth Hormone Insensitivity Syndrome
1 0.925 0.200 5 42699892 missense variant G/C snv 1.2E-05 0.010 1.000 1 1998 1998
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.925 0.200 5 42699892 missense variant G/C snv 1.2E-05 0.010 1.000 1 1997 1997