ADRB2, adrenoceptor beta 2, 154

N. diseases: 387; N. variants: 17
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: rs1800888
rs1800888 		0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 2 2017 2019
dbSNP: rs1800888
rs1800888 		0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs1042713
rs1042713 		0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.100 0.921 38 1993 2019
dbSNP: rs1042714
rs1042714 		0.597 0.640 5 148826910 stop gained G/C;T snv 0.68
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.100 0.952 21 1995 2019
dbSNP: rs1042714
rs1042714 		0.597 0.640 5 148826910 stop gained G/C;T snv 0.68
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.100 0.882 17 1997 2018
dbSNP: rs1042713
rs1042713 		0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.100 0.786 14 2000 2017
dbSNP: rs1042713
rs1042713 		0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.100 0.833 12 2001 2015
dbSNP: rs1042714
rs1042714 		0.597 0.640 5 148826910 stop gained G/C;T snv 0.68
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.100 0.833 12 2001 2017
dbSNP: rs1042713
rs1042713 		0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.060 0.833 6 2010 2018
dbSNP: rs1800888
rs1800888 		0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.060 1.000 6 2006 2019
dbSNP: rs1042713
rs1042713 		0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.050 1.000 5 2002 2017
dbSNP: rs1042714
rs1042714 		0.597 0.640 5 148826910 stop gained G/C;T snv 0.68
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.050 0.800 5 2005 2018
dbSNP: rs1042714
rs1042714 		0.597 0.640 5 148826910 stop gained G/C;T snv 0.68
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.050 1.000 5 2002 2018
dbSNP: rs1042713
rs1042713 		0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.040 1.000 4 2007 2018
dbSNP: rs1042713
rs1042713 		0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.040 1.000 4 2007 2018
dbSNP: rs1042714
rs1042714 		0.597 0.640 5 148826910 stop gained G/C;T snv 0.68
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.040 0.750 4 2009 2018
dbSNP: rs1042714
rs1042714 		0.597 0.640 5 148826910 stop gained G/C;T snv 0.68
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.040 1.000 4 2012 2019
dbSNP: rs1042714
rs1042714 		0.597 0.640 5 148826910 stop gained G/C;T snv 0.68
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.040 1.000 4 2001 2003
dbSNP: rs1800888
rs1800888 		0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.040 1.000 4 2001 2010
dbSNP: rs1042713
rs1042713 		0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2001 2004
dbSNP: rs1042713
rs1042713 		0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.030 0.667 3 2005 2013
dbSNP: rs1042713
rs1042713 		0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.030 1.000 3 2005 2010
dbSNP: rs1042714
rs1042714 		0.597 0.640 5 148826910 stop gained G/C;T snv 0.68
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.030 0.667 3 2005 2012
dbSNP: rs1042714
rs1042714 		0.597 0.640 5 148826910 stop gained G/C;T snv 0.68
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.030 1.000 3 2005 2018
dbSNP: rs1800888
rs1800888 		0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.030 1.000 3 2012 2016