GH1, growth hormone 1, 2688

N. diseases: 686; N. variants: 27
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: rs137853220
rs137853220 		0.882 0.200 17 63917909 missense variant G/A snv 4.0E-06
CUI: C1849779
Disease: Kowarski syndrome
Kowarski syndrome 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 3 1996 2007
dbSNP: rs137853221
rs137853221 		0.925 0.160 17 63917803 missense variant T/C snv
CUI: C1849779
Disease: Kowarski syndrome
Kowarski syndrome 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 3 1996 2007
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: rs2005172
rs2005172 		17 63918895 intron variant A/C;T snv
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2019 2019
dbSNP: rs137853219
rs137853219 		1.000 0.120 17 63918458 stop gained C/T snv
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs137853222
rs137853222 		0.925 0.160 17 63918072 missense variant C/A;G snv
CUI: C1849779
Disease: Kowarski syndrome
Kowarski syndrome 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
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
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: rs797044449
rs797044449 		1.000 17 63917759 splice donor variant C/A;G snv
CUI: C4722273
Disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV 		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: rs863223308
rs863223308 		1.000 17 63917755 splice region variant C/G;T snv 1.2E-05
CUI: C4722273
Disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV 		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
dbSNP: rs137853223
rs137853223 		0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.030 1.000 3 2001 2020
dbSNP: rs1441638629
rs1441638629 		0.925 0.200 17 63918773 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.030 1.000 3 2012 2015
dbSNP: rs137853223
rs137853223 		0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.020 1.000 2 2001 2020
dbSNP: rs137853220
rs137853220 		0.882 0.200 17 63917909 missense variant G/A snv 4.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs137853220
rs137853220 		0.882 0.200 17 63917909 missense variant G/A snv 4.0E-06
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2007 2007
dbSNP: rs137853220
rs137853220 		0.882 0.200 17 63917909 missense variant G/A snv 4.0E-06
CUI: C0878787
Disease: Growth failure
Growth failure 		0.010 < 0.001 1 2007 2007
dbSNP: rs137853221
rs137853221 		0.925 0.160 17 63917803 missense variant T/C snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs137853222
rs137853222 		0.925 0.160 17 63918072 missense variant C/A;G snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs137853223
rs137853223 		0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2020 2020