GH1, growth hormone 1, 2688

N. diseases: 686; N. variants: 27
Disease: Isolated Growth Hormone Deficiency, Type II ×
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: rs137853223
rs137853223 		0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 2 1997 2001
dbSNP: rs71640277
rs71640277 		1.000 0.120 17 63918016 splice donor variant C/G;T snv
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs797044450
rs797044450 		1.000 0.120 17 63918011 splice region variant A/C;G snv
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs863223306
rs863223306 		1.000 0.120 17 63917989 intron variant C/T snv
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs863223307
rs863223307 		1.000 0.120 17 63918012 splice region variant C/T snv
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs863223309
rs863223309 		1.000 0.120 17 63918138 splice acceptor variant T/A snv
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs863223310
rs863223310 		1.000 0.120 17 63918015 splice donor variant A/G snv
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0