GH1, growth hormone 1, 2688

N. diseases: 686; N. variants: 27
Disease: Isolated Growth Hormone Deficiency, Type IB ×
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: rs71640273
rs71640273 		1.000 0.160 17 63918393 missense variant G/A snv 1.2E-04 1.1E-04
CUI: C2748571
Disease: Isolated Growth Hormone Deficiency, Type IB
Isolated Growth Hormone Deficiency, Type IB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs71640276
rs71640276 		1.000 0.160 17 63918091 missense variant T/C snv 1.6E-04 2.7E-04
CUI: C2748571
Disease: Isolated Growth Hormone Deficiency, Type IB
Isolated Growth Hormone Deficiency, Type IB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0