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
0.800 GeneticVariation UNIPROT Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. 2022742 1991
dbSNP: rs5128
rs5128
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
dbSNP: rs5142
rs5142
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C1445957
Disease:
Serum total cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs5142
rs5142
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs7123454
rs7123454
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs76353203
rs76353203
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASCAT Very low-depth whole-genome sequencing in complex trait association studies. 30576415 2019
dbSNP: rs76353203
rs76353203
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0392885
Disease:
High density lipoprotein measurement
0.700 GeneticVariation GWASCAT Very low-depth whole-genome sequencing in complex trait association studies. 30576415 2019
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: rs2854116
rs2854116
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.060 GeneticVariation BEFREE The combination of CI with S1 showed even better diagnostic accuracy than CI, which suggests the potential value of rs2854116 for the diagnosis of NAFLD. 29595690 2018
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: rs2854116
rs2854116
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.060 GeneticVariation BEFREE In 95 healthy Asian Indian men, a group known to have a high prevalence of nonalcoholic fatty liver disease, we genotyped two single-nucleotide polymorphisms (SNPs) in the gene encoding apolipoprotein C3 (APOC3) that are known to be associated with hypertriglyceridemia (rs2854116 [T-455C] and rs2854117 [C-482T]). 20335584 2010
dbSNP: rs2854116
rs2854116
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.060 GeneticVariation BEFREE No significant differences in genotype and allele frequencies of rs2854116 and rs2854117 were found between the NAFLD population and the controls (P > 0.05). 24707151 2014
dbSNP: rs2854116
rs2854116
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.060 GeneticVariation BEFREE The association between nonalcoholic fatty liver disease (NAFLD) and apolipoprotein C3 gene (APOC3) promoter region single-nucleotide polymorphisms (SNPs) rs2854117 and rs2854116 is controversial. 27059980 2016
dbSNP: rs2854117
rs2854117
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.060 GeneticVariation BEFREE No association between APOC3 gene variant rs2854117 and histological or metabolic parameters of NAFLD was found. 23512881 2013
dbSNP: rs2854117
rs2854117
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.060 GeneticVariation BEFREE No significant differences in genotype and allele frequencies of rs2854116 and rs2854117 were found between the NAFLD population and the controls (P > 0.05). 24707151 2014
dbSNP: rs2854117
rs2854117
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.060 GeneticVariation BEFREE In 95 healthy Asian Indian men, a group known to have a high prevalence of nonalcoholic fatty liver disease, we genotyped two single-nucleotide polymorphisms (SNPs) in the gene encoding apolipoprotein C3 (APOC3) that are known to be associated with hypertriglyceridemia (rs2854116 [T-455C] and rs2854117 [C-482T]). 20335584 2010
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: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.060 GeneticVariation BEFREE The association between nonalcoholic fatty liver disease (NAFLD) and apolipoprotein C3 gene (APOC3) promoter region single-nucleotide polymorphisms (SNPs) rs2854117 and rs2854116 is controversial. 27059980 2016
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: 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: C2711227
Disease:
Steatohepatitis
0.020 GeneticVariation BEFREE The PNPLA3, but not the APOC3 rs2854116 SNP, was associated with fatty liver but not with triglyceride levels. 22105854 2012
dbSNP: rs2854116
rs2854116
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0015695
Disease:
Fatty Liver
0.020 GeneticVariation BEFREE The PNPLA3, but not the APOC3 rs2854116 SNP, was associated with fatty liver but not with triglyceride levels. 22105854 2012
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: rs2854116
rs2854116
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0020557
Disease:
Hypertriglyceridemia
0.020 GeneticVariation BEFREE In 95 healthy Asian Indian men, a group known to have a high prevalence of nonalcoholic fatty liver disease, we genotyped two single-nucleotide polymorphisms (SNPs) in the gene encoding apolipoprotein C3 (APOC3) that are known to be associated with hypertriglyceridemia (rs2854116 [T-455C] and rs2854117 [C-482T]). 20335584 2010
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