ADRB3, adrenoceptor beta 3, 155

N. diseases: 142; N. variants: 8
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: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2012 2012
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 < 0.001 1 2012 2012
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		Endocrine System Diseases 0.010 < 0.001 1 2000 2000
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0268186
Disease: Congenital glucose-galactose malabsorption
Congenital glucose-galactose malabsorption 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0206081
Disease: Hyperandrogenism
Hyperandrogenism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 < 0.001 1 2000 2000
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C1401162
Disease: Carbohydrate intolerance
Carbohydrate intolerance 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.030 0.333 3 2004 2007
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 0.500 2 2000 2005
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		Nutritional and Metabolic Diseases 0.020 0.500 2 2001 2003
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 0.500 2 2005 2014
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.030 0.667 3 2005 2014
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.800 0.843 51 1995 2019
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.100 0.882 34 1995 2017
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.100 1.000 16 1996 2019
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.080 1.000 8 1999 2017
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome 		Nutritional and Metabolic Diseases 0.070 1.000 7 1996 2003
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.050 1.000 5 1996 2018
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0878773
Disease: Overactive Bladder
Overactive Bladder 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.050 1.000 5 2007 2015
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		Pathological Conditions, Signs and Symptoms 0.040 1.000 4 2007 2013
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.030 1.000 3 1999 2018
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.030 1.000 3 1996 2014
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2005 2014
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		Nutritional and Metabolic Diseases 0.020 1.000 2 2001 2016
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 1.000 2 2012 2014
dbSNP: rs4994
rs4994 		0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.020 1.000 2 1997 2006