ANGPTL4, angiopoietin like 4, 51129

N. diseases: 198; 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: rs1044250
rs1044250 		0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2011 2016
dbSNP: rs1044250
rs1044250 		0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1044250
rs1044250 		0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs1044250
rs1044250 		0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1044250
rs1044250 		0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1044250
rs1044250 		0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1044250
rs1044250 		0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1044250
rs1044250 		0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1044250
rs1044250 		0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29
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: rs1044250
rs1044250 		0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1044250
rs1044250 		0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1044250
rs1044250 		0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs11672433
rs11672433 		0.925 0.120 19 8373832 synonymous variant G/A;C snv 0.10; 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11672433
rs11672433 		0.925 0.120 19 8373832 synonymous variant G/A;C snv 0.10; 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11672433
rs11672433 		0.925 0.120 19 8373832 synonymous variant G/A;C snv 0.10; 4.0E-06
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs116843064
rs116843064 		0.776 0.160 19 8364439 missense variant G/A snv 1.3E-02 1.5E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 7 2014 2019
dbSNP: rs116843064
rs116843064 		0.776 0.160 19 8364439 missense variant G/A snv 1.3E-02 1.5E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 7 2014 2019
dbSNP: rs116843064
rs116843064 		0.776 0.160 19 8364439 missense variant G/A snv 1.3E-02 1.5E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.030 0.667 3 2008 2016
dbSNP: rs116843064
rs116843064 		0.776 0.160 19 8364439 missense variant G/A snv 1.3E-02 1.5E-02
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.030 1.000 3 2008 2009
dbSNP: rs116843064
rs116843064 		0.776 0.160 19 8364439 missense variant G/A snv 1.3E-02 1.5E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.030 0.667 3 2008 2016
dbSNP: rs116843064
rs116843064 		0.776 0.160 19 8364439 missense variant G/A snv 1.3E-02 1.5E-02
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.030 1.000 3 2008 2009
dbSNP: rs116843064
rs116843064 		0.776 0.160 19 8364439 missense variant G/A snv 1.3E-02 1.5E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.710 1.000 3 2016 2018
dbSNP: rs116843064
rs116843064 		0.776 0.160 19 8364439 missense variant G/A snv 1.3E-02 1.5E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2016 2018
dbSNP: rs116843064
rs116843064 		0.776 0.160 19 8364439 missense variant G/A snv 1.3E-02 1.5E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.020 1.000 2 2016 2019
dbSNP: rs116843064
rs116843064 		0.776 0.160 19 8364439 missense variant G/A snv 1.3E-02 1.5E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2011 2016