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: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 3 2011 2018
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 3 2011 2018
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 2018
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2014 2018
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: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 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: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2011 2011
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.800 1.000 1 2011 2011
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: rs2266788
rs2266788 		0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93
CUI: C4016963
Disease: HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO
HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs619054
rs619054 		11 116790097 3 prime UTR variant G/A snv 0.19 0.19
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
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: 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: 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: rs574363219
rs574363219 		1.000 0.040 11 116790427 missense variant C/T snv 1.4E-04
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs574363219
rs574363219 		1.000 0.040 11 116790427 missense variant C/T snv 1.4E-04
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014