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: rs10750097
rs10750097 		1.000 0.040 11 116793324 upstream gene variant G/A;C snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2018 2018
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: rs143292359
rs143292359 		11 116790285 missense variant G/A snv 5.9E-04 5.0E-04
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2008 2008
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: 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: 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: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		Respiratory Tract Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0340288
Disease: Stable angina
Stable angina 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C1402315
Disease: Vascular lesions
Vascular lesions 		0.010 1.000 1 2014 2014
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0002965
Disease: Angina, Unstable
Angina, Unstable 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
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: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C3160761
Disease: Diabetic dyslipidaemia
Diabetic dyslipidaemia 		0.010 1.000 1 2008 2008
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs3135506
rs3135506 		0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02
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 2008 2008