GH1, growth hormone 1, 2688

N. diseases: 686; N. variants: 27
Disease: Somatotropin deficiency ×
Source: ALL
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: rs373184101
rs373184101 		0.925 0.160 17 63917365 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs755905735
rs755905735 		0.851 0.160 17 63917338 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007