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: rs121918382
rs121918382
0.925 0.080 11 116832816 missense variant A/G snv 4.0E-06
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
dbSNP: rs1261591521
rs1261591521
1.000 11 116830784 missense variant G/A snv 4.0E-06
CUI: C0542037
Disease: Hypotriglyceridemia
Hypotriglyceridemia
0.010 1.000 1 2010 2010
dbSNP: rs138326449
rs138326449
0.851 0.080 11 116830638 splice donor variant G/A snv 1.4E-03 1.5E-03
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs138326449
rs138326449
0.851 0.080 11 116830638 splice donor variant G/A snv 1.4E-03 1.5E-03
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs138326449
rs138326449
0.851 0.080 11 116830638 splice donor variant G/A snv 1.4E-03 1.5E-03
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs147210663
rs147210663
0.925 0.080 11 116830844 missense variant G/A;T snv 8.7E-04; 8.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.010 1.000 1 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: 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: rs5128
rs5128
0.925 0.080 11 116832924 3 prime UTR variant G/C snv 0.84 0.87
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs5128
rs5128
0.925 0.080 11 116832924 3 prime UTR variant G/C snv 0.84 0.87
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs5128
rs5128
0.925 0.080 11 116832924 3 prime UTR variant G/C snv 0.84 0.87
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs5128
rs5128
0.925 0.080 11 116832924 3 prime UTR variant G/C snv 0.84 0.87
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5128
rs5128
0.925 0.080 11 116832924 3 prime UTR variant G/C snv 0.84 0.87
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
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