GHR, growth hormone receptor, 2690

N. diseases: 10; N. variants: 31
Disease: Laron Syndrome ×
Source: CURATED ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909372
rs121909372 		1.000 0.120 5 42694985 missense variant G/C snv
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0