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: 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: 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: 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
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
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 2006 2006
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C4016963
Disease: HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO
HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs651821
rs651821 		0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 9 2012 2019
dbSNP: rs651821
rs651821 		0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 5 2012 2019
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: rs651821
rs651821 		0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 4 2012 2019
dbSNP: rs651821
rs651821 		0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.720 1.000 2 2017 2017
dbSNP: rs651821
rs651821 		0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.710 1.000 2 2018 2018
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: rs17120035
rs17120035 		1.000 0.040 11 116793135 upstream gene variant C/T snv 6.4E-02
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs3135507
rs3135507 		0.925 0.120 11 116790772 missense variant C/T snv 5.0E-02 5.5E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3135507
rs3135507 		0.925 0.120 11 116790772 missense variant C/T snv 5.0E-02 5.5E-02
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2005 2005