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: rs1379188099
rs1379188099 		1.000 17 63918087 missense variant G/A snv 4.0E-06
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.010 1.000 1 2011 2011
dbSNP: rs1441638629
rs1441638629 		0.925 0.200 17 63918773 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1487917041
rs1487917041 		1.000 17 63917839 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.010 1.000 1 2009 2009
dbSNP: rs2665802
rs2665802 		0.925 0.120 17 63917670 intron variant A/G;T snv 0.32
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2665802
rs2665802 		0.925 0.120 17 63917670 intron variant A/G;T snv 0.32
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs2665802
rs2665802 		0.925 0.120 17 63917670 intron variant A/G;T snv 0.32
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs2665802
rs2665802 		0.925 0.120 17 63917670 intron variant A/G;T snv 0.32
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs371953554
rs371953554 		1.000 0.080 17 63918392 missense variant C/A;T snv 4.0E-06; 3.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs373184101
rs373184101 		0.925 0.160 17 63917365 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.010 1.000 1 2019 2019
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: rs377600944
rs377600944 		17 63917485 missense variant G/A snv 8.8E-05 1.3E-04
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs755905735
rs755905735 		0.851 0.160 17 63917338 missense variant G/A snv 8.0E-06 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 2007 2007
dbSNP: rs755905735
rs755905735 		0.851 0.160 17 63917338 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007
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
dbSNP: rs755905735
rs755905735 		0.851 0.160 17 63917338 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.010 1.000 1 2007 2007
dbSNP: rs761695685
rs761695685 		0.925 0.200 17 63918865 intron 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 2017 2017
dbSNP: rs761695685
rs761695685 		0.925 0.200 17 63918865 intron variant T/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs762202654
rs762202654 		0.882 0.160 17 63917377 missense variant T/C snv 2.4E-05 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2003 2003
dbSNP: rs762202654
rs762202654 		0.882 0.160 17 63917377 missense variant T/C snv 2.4E-05 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2003 2003
dbSNP: rs762202654
rs762202654 		0.882 0.160 17 63917377 missense variant T/C snv 2.4E-05 7.0E-06
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs763850922
rs763850922 		0.925 0.120 17 63917760 splice region variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.010 1.000 1 2007 2007
dbSNP: rs763850922
rs763850922 		0.925 0.120 17 63917760 splice region variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007