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: 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: rs76353203
rs76353203 		1.000 0.040 11 116830637 stop gained C/G;T snv 8.0E-06; 6.6E-04
CUI: C0392885
Disease: High density lipoprotein measurement
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: 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: 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: 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: rs121918381
rs121918381 		11 116832864 missense variant A/G snv 2.8E-05
CUI: C4015848
Disease: APOLIPOPROTEIN C-III, NONGLYCOSYLATED PHENOTYPE
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: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 2 2017 2018
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: 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: 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: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.020 1.000 2 2014 2017
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: 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: 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