APOA5, apolipoprotein A5, 116519

N. diseases: 107; N. variants: 22
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: rs149808404
rs149808404 		11 116790406 stop gained G/A;C snv 4.1E-05; 8.1E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.020 1.000 2 2014 2019
dbSNP: rs121917821
rs121917821 		0.925 0.080 11 116790814 stop gained G/A snv 4.0E-06
CUI: C0020481
Disease: Hyperlipoproteinemia Type V
Hyperlipoproteinemia Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 2005 2005
dbSNP: rs121917821
rs121917821 		0.925 0.080 11 116790814 stop gained G/A snv 4.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs201079485
rs201079485 		0.925 0.080 11 116790940 stop gained G/A;T snv 8.0E-05; 4.0E-06
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs201079485
rs201079485 		0.925 0.080 11 116790940 stop gained G/A;T snv 8.0E-05; 4.0E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs201079485
rs201079485 		0.925 0.080 11 116790940 stop gained G/A;T snv 8.0E-05; 4.0E-06
CUI: C0813230
Disease: Serum triglycerides increased
Serum triglycerides increased 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs201079485
rs201079485 		0.925 0.080 11 116790940 stop gained G/A;T snv 8.0E-05; 4.0E-06
CUI: C0020480
Disease: Hyperlipoproteinemia Type IV
Hyperlipoproteinemia Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.080 1.000 8 2003 2018
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.070 1.000 7 2007 2016
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.060 1.000 6 2007 2015
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.050 1.000 5 2007 2012
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.050 0.800 5 2007 2018
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 4 2009 2019
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 3 2018 2019
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.720 1.000 3 2008 2019
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 3 2018 2019
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.030 1.000 3 2005 2013
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.030 1.000 3 2014 2018
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 3 2018 2019
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2008 2014
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.030 1.000 3 2008 2017
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2005 2016
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.720 1.000 2 2017 2019
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2009 2018
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2009 2018