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
CUI: C3151467
Disease: Apolipoprotein C-III Deficiency
Apolipoprotein C-III Deficiency
Nutritional and Metabolic Diseases 0.800 1.000 1 1991 1991
dbSNP: rs138326449
rs138326449
0.851 0.080 11 116830638 splice donor variant G/A snv 1.4E-03 1.5E-03
High density lipoprotein measurement
0.700 1.000 2 2017 2018
dbSNP: rs76353203
rs76353203
1.000 0.040 11 116830637 stop gained C/G;T snv 8.0E-06; 6.6E-04
High density lipoprotein measurement
0.700 1.000 2 2017 2019
dbSNP: rs76353203
rs76353203
1.000 0.040 11 116830637 stop gained C/G;T snv 8.0E-06; 6.6E-04
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 2 2017 2019
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: rs4520
rs4520
11 116830819 synonymous variant T/C snv 0.65 0.70
CUI: C0202171
Disease: Phosphatidylinositol measurement
Phosphatidylinositol measurement
0.700 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: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs5128
rs5128
0.925 0.080 11 116832924 3 prime UTR variant G/C snv 0.84 0.87
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
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: rs121918381
rs121918381
11 116832864 missense variant A/G snv 2.8E-05
APOLIPOPROTEIN C-III, NONGLYCOSYLATED PHENOTYPE
0.700 0
dbSNP: rs138326449
rs138326449
0.851 0.080 11 116830638 splice donor variant G/A snv 1.4E-03 1.5E-03
CUI: C3151467
Disease: Apolipoprotein C-III Deficiency
Apolipoprotein C-III Deficiency
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs147210663
rs147210663
0.925 0.080 11 116830844 missense variant G/A;T snv 8.7E-04; 8.0E-06
CUI: C3151467
Disease: Apolipoprotein C-III Deficiency
Apolipoprotein C-III Deficiency
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs76353203
rs76353203
1.000 0.040 11 116830637 stop gained C/G;T snv 8.0E-06; 6.6E-04
CUI: C3151467
Disease: Apolipoprotein C-III Deficiency
Apolipoprotein C-III Deficiency
Nutritional and Metabolic Diseases 0.700 0
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: rs5128
rs5128
0.925 0.080 11 116832924 3 prime UTR variant G/C snv 0.84 0.87
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.020 1.000 2 2014 2017
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