APOC3, apolipoprotein C3, 345

N. diseases: 153; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918382
rs121918382
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C3151467
Disease:
Apolipoprotein C-III Deficiency
G 0.800 CausalMutation CLINVAR
dbSNP: rs121918381
rs121918381
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C4015848
Disease:
APOLIPOPROTEIN C-III, NONGLYCOSYLATED PHENOTYPE
G 0.700 CausalMutation CLINVAR
dbSNP: rs138326449
rs138326449
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C3151467
Disease:
Apolipoprotein C-III Deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs147210663
rs147210663
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C3151467
Disease:
Apolipoprotein C-III Deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs76353203
rs76353203
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C3151467
Disease:
Apolipoprotein C-III Deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs138326449
rs138326449
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE A rare variant in APOC3(rs138326449) has been associated with triglyceride, very low-density lipoprotein, and high-density lipoprotein levels, as well as risk of coronary heart disease. 27114411 2016
dbSNP: rs138326449
rs138326449
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE A rare variant in APOC3(rs138326449) has been associated with triglyceride, very low-density lipoprotein, and high-density lipoprotein levels, as well as risk of coronary heart disease. 27114411 2016
dbSNP: rs138326449
rs138326449
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE A rare variant in APOC3(rs138326449) has been associated with triglyceride, very low-density lipoprotein, and high-density lipoprotein levels, as well as risk of coronary heart disease. 27114411 2016
dbSNP: rs2854116
rs2854116
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.060 GeneticVariation BEFREE A recent study in Indian subjects suggested common variants in apolipoprotein C3 (APOC3) (T-455C at rs2854116 and C-482T at rs2854117) to contribute to non-alcoholic fatty liver disease (NAFLD), plasma apoC3 and triglyceride concentrations. 22141340 2012
dbSNP: rs2854117
rs2854117
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.060 GeneticVariation BEFREE A recent study in Indian subjects suggested common variants in apolipoprotein C3 (APOC3) (T-455C at rs2854116 and C-482T at rs2854117) to contribute to non-alcoholic fatty liver disease (NAFLD), plasma apoC3 and triglyceride concentrations. 22141340 2012
dbSNP: rs2854117
rs2854117
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0948008
Disease:
Ischemic stroke
0.020 GeneticVariation BEFREE A significantly increased risk for ischemic stroke was also identified among high-risk haplotypes (C-C-T-A and T-T-C-A) for rs670-rs2854116-rs2854117-rs662799. 28635360 2017
dbSNP: rs2070667
rs2070667
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.010 GeneticVariation BEFREE Among the five SNPs (rs4225, rs4520, rs5128, rs2070666, and rs2070667) in APOC3, only rs2070666 (c.179 + 62 T/A) was significantly different in genotype and allele frequency (both p < 0.01) between groups of NAFLD and control. 27059980 2016
dbSNP: rs2070666
rs2070666
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0023895
Disease:
Liver diseases
0.010 GeneticVariation BEFREE APOC3 rs2070666 Is Associated with the Hepatic Steatosis Independently of PNPLA3 rs738409 in Chinese Han Patients with Nonalcoholic Fatty Liver Diseases. 27059980 2016
dbSNP: rs121918382
rs121918382
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0342883
Disease:
Cholesteryl Ester Transfer Protein Deficiency
0.010 GeneticVariation BEFREE Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. 2022742 1991
dbSNP: rs121918382
rs121918382
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C3151467
Disease:
Apolipoprotein C-III Deficiency
0.800 GeneticVariation UNIPROT Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. 2022742 1991
dbSNP: rs2854116
rs2854116
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.060 GeneticVariation BEFREE Apolipoprotein C3 (APOC3) is a component of triglyceride-rich lipoproteins, and APOC3 rs2854116 and rs2854117 polymorphisms have been associated with non-alcoholic fatty liver disease, hypertriglyceridaemia, and insulin-resistance. 21663607 2011
dbSNP: rs2854117
rs2854117
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.060 GeneticVariation BEFREE Apolipoprotein C3 (APOC3) is a component of triglyceride-rich lipoproteins, and APOC3 rs2854116 and rs2854117 polymorphisms have been associated with non-alcoholic fatty liver disease, hypertriglyceridaemia, and insulin-resistance. 21663607 2011
dbSNP: rs2854116
rs2854116
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C2711227
Disease:
Steatohepatitis
0.020 GeneticVariation BEFREE By multivariable Cox analysis, concurrent fatty liver (HR 7.27, 95% confidence interval: 1.52-34.76; P = 0.013), age, cirrhosis, and APOC3 rs2854116 TC/CC genotype (HR 3.93, 95% confidence interval: 1.30-11.84; P = 0.013) were independent factors predicting HCC development. 27547913 2017
dbSNP: rs2854116
rs2854116
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0015695
Disease:
Fatty Liver
0.020 GeneticVariation BEFREE By multivariable Cox analysis, concurrent fatty liver (HR 7.27, 95% confidence interval: 1.52-34.76; P = 0.013), age, cirrhosis, and APOC3 rs2854116 TC/CC genotype (HR 3.93, 95% confidence interval: 1.30-11.84; P = 0.013) were independent factors predicting HCC development. 27547913 2017
dbSNP: rs2854116
rs2854116
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE By multivariable Cox analysis, concurrent fatty liver (HR 7.27, 95% confidence interval: 1.52-34.76; P = 0.013), age, cirrhosis, and APOC3 rs2854116 TC/CC genotype (HR 3.93, 95% confidence interval: 1.30-11.84; P = 0.013) were independent factors predicting HCC development. 27547913 2017
dbSNP: rs2854116
rs2854116
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0948008
Disease:
Ischemic stroke
0.020 GeneticVariation BEFREE Conclusion This study showed that rs670, rs2854116, and rs662799 SNPs of the APOA1-C3-A5 cluster are associated with ischemic stroke</span> in the northern Chinese Han population. 28635360 2017
dbSNP: rs2854117
rs2854117
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0020557
Disease:
Hypertriglyceridemia
0.020 GeneticVariation BEFREE Conversely, two sequence variants in apolipoprotein C3 (APOC3) that have been linked to hypertriglyceridemia (rs2854117 C > T and rs2854116 T > C) have recently been reported to be associated with both hepatic fat content and insulin resistance. 21274868 2011
dbSNP: rs2854116
rs2854116
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0020557
Disease:
Hypertriglyceridemia
0.020 GeneticVariation BEFREE Conversely, two sequence variants in apolipoprotein C3 (APOC3) that have been linked to hypertriglyceridemia (rs2854117 C > T and rs2854116 T > C) have recently been reported to be associated with both hepatic fat content and insulin resistance. 21274868 2011
dbSNP: rs138326449
rs138326449
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0392885
Disease:
High density lipoprotein measurement
A 0.700 GeneticVariation GWASCAT Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. 28270201 2017
dbSNP: rs1261591521
rs1261591521
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0542037
Disease:
Hypotriglyceridemia
0.010 GeneticVariation BEFREE Functional analysis of the missense APOC3 mutation Ala23Thr associated with human hypotriglyceridemia. 20097930 2010