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: rs9804646
rs9804646 		11 116794363 upstream gene variant C/T snv 0.17
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 5 2012 2019
dbSNP: rs9804646
rs9804646 		11 116794363 upstream gene variant C/T snv 0.17
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 2018
dbSNP: rs9804646
rs9804646 		11 116794363 upstream gene variant C/T snv 0.17
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs778114184
rs778114184 		1.000 0.080 11 116790385 missense variant G/A;T snv 2.0E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs777046568
rs777046568 		1.000 0.080 11 116790802 frameshift variant G/- del 6.0E-05 7.0E-06
CUI: C0020481
Disease: Hyperlipoproteinemia Type V
Hyperlipoproteinemia Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs777046568
rs777046568 		1.000 0.080 11 116790802 frameshift variant G/- del 6.0E-05 7.0E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs774006043
rs774006043 		0.925 0.080 11 116790561 missense variant C/T snv
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs774006043
rs774006043 		0.925 0.080 11 116790561 missense variant C/T snv
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs774006043
rs774006043 		0.925 0.080 11 116790561 missense variant C/T snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7103224
rs7103224 		11 116793250 upstream gene variant G/A snv 5.8E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7103224
rs7103224 		11 116793250 upstream gene variant G/A snv 5.8E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.100 0.900 10 2011 2017
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 8 2012 2019
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 7 2012 2019
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.070 1.000 7 2010 2019
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.060 1.000 6 2012 2018
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.050 1.000 5 2011 2015
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2012 2019
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.030 1.000 3 2010 2016
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.030 1.000 3 2012 2016
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.030 1.000 3 2014 2018
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.030 1.000 3 2010 2016
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
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 2011 2014
dbSNP: rs662799
rs662799 		0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2012 2014