APLN, apelin, 8862

N. diseases: 226; N. variants: 11
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: rs3761581
rs3761581 		0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.040 1.000 4 2009 2016
dbSNP: rs3761581
rs3761581 		0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.020 0.500 2 2010 2016
dbSNP: rs56204867
rs56204867 		0.925 0.040 X 129656490 upstream gene variant A/G snv 0.11
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 0.500 2 2015 2019
dbSNP: rs181301686
rs181301686 		1.000 0.080 X 129654944 5 prime UTR variant A/G snv 3.6E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2235312
rs2235312 		0.882 0.160 X 129653118 intron variant A/G snv 0.31
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2235312
rs2235312 		0.882 0.160 X 129653118 intron variant A/G snv 0.31
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2235312
rs2235312 		0.882 0.160 X 129653118 intron variant A/G snv 0.31
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2281068
rs2281068 		0.925 0.080 X 129653796 intron variant T/C snv 0.31
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2281068
rs2281068 		0.925 0.080 X 129653796 intron variant T/C snv 0.31
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2281068
rs2281068 		0.925 0.080 X 129653796 intron variant T/C snv 0.31
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs3115757
rs3115757 		0.925 0.120 X 129648435 intron variant C/G snv 0.26
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3115757
rs3115757 		0.925 0.120 X 129648435 intron variant C/G snv 0.26
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3115757
rs3115757 		0.925 0.120 X 129648435 intron variant C/G snv 0.26
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3115758
rs3115758 		1.000 0.040 X 129647887 3 prime UTR variant C/A snv 0.21 0.31
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3115759
rs3115759 		1.000 0.040 X 129647539 3 prime UTR variant C/G;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3761581
rs3761581 		0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3761581
rs3761581 		0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3761581
rs3761581 		0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs56204867
rs56204867 		0.925 0.040 X 129656490 upstream gene variant A/G snv 0.11
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs56204867
rs56204867 		0.925 0.040 X 129656490 upstream gene variant A/G snv 0.11
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs5975126
rs5975126 		X 129646415 3 prime UTR variant G/A;C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs755559514
rs755559514 		0.925 0.040 X 129648648 missense variant T/C;G snv 1.2E-05; 6.1E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs755559514
rs755559514 		0.925 0.040 X 129648648 missense variant T/C;G snv 1.2E-05; 6.1E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs755559514
rs755559514 		0.925 0.040 X 129648648 missense variant T/C;G snv 1.2E-05; 6.1E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs909656
rs909656 		X 129648585 intron variant G/A;T snv 1.4E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018