APOC3, apolipoprotein C3, 345

N. diseases: 153; N. variants: 15
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: rs2854116
rs2854116 		0.807 0.200 11 116829453 upstream gene variant C/T snv 0.51
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.060 1.000 6 2010 2018
dbSNP: rs2854117
rs2854117 		0.851 0.200 11 116829426 upstream gene variant T/A;C snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.060 1.000 6 2010 2016
dbSNP: rs2854116
rs2854116 		0.807 0.200 11 116829453 upstream gene variant C/T snv 0.51
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		Digestive System Diseases 0.020 1.000 2 2012 2017
dbSNP: rs2854116
rs2854116 		0.807 0.200 11 116829453 upstream gene variant C/T snv 0.51
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2017 2017
dbSNP: rs2854116
rs2854116 		0.807 0.200 11 116829453 upstream gene variant C/T snv 0.51
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.020 1.000 2 2010 2011
dbSNP: rs2854116
rs2854116 		0.807 0.200 11 116829453 upstream gene variant C/T snv 0.51
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		Digestive System Diseases 0.020 1.000 2 2012 2017
dbSNP: rs2854117
rs2854117 		0.851 0.200 11 116829426 upstream gene variant T/A;C snv
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.020 1.000 2 2010 2011
dbSNP: rs2854117
rs2854117 		0.851 0.200 11 116829426 upstream gene variant T/A;C snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2017 2017
dbSNP: rs2070666
rs2070666 		0.882 0.120 11 116830958 intron variant T/A;C snv
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2070666
rs2070666 		0.882 0.120 11 116830958 intron variant T/A;C snv
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2070666
rs2070666 		0.882 0.120 11 116830958 intron variant T/A;C snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2070666
rs2070666 		0.882 0.120 11 116830958 intron variant T/A;C snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2070667
rs2070667 		1.000 0.040 11 116830953 intron variant G/A;C;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs2070667
rs2070667 		1.000 0.040 11 116830953 intron variant G/A;C;T snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2854116
rs2854116 		0.807 0.200 11 116829453 upstream gene variant C/T snv 0.51
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		Digestive System Diseases; Infections 0.010 1.000 1 2013 2013
dbSNP: rs2854116
rs2854116 		0.807 0.200 11 116829453 upstream gene variant C/T snv 0.51
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2854117
rs2854117 		0.851 0.200 11 116829426 upstream gene variant T/A;C snv
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		Digestive System Diseases; Infections 0.010 1.000 1 2013 2013
dbSNP: rs2854117
rs2854117 		0.851 0.200 11 116829426 upstream gene variant T/A;C snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2854117
rs2854117 		0.851 0.200 11 116829426 upstream gene variant T/A;C snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs4225
rs4225 		1.000 0.040 11 116832955 3 prime UTR variant G/T snv 0.45
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs5142
rs5142 		11 116831134 intron variant T/A;C snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5142
rs5142 		11 116831134 intron variant T/A;C snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7123454
rs7123454 		11 116833462 upstream gene variant C/A snv 0.73
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs121918382
rs121918382 		0.925 0.080 11 116832816 missense variant A/G snv 4.0E-06
CUI: C0342883
Disease: Cholesteryl Ester Transfer Protein Deficiency
Cholesteryl Ester Transfer Protein Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1991 1991
dbSNP: rs121918382
rs121918382 		0.925 0.080 11 116832816 missense variant A/G snv 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2018 2018