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: rs121918382
rs121918382
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C3151467
Disease:
Apolipoprotein C-III Deficiency
G 0.800 CausalMutation CLINVAR
dbSNP: rs4520
rs4520
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0202171
Disease:
Phosphatidylinositol measurement
C 0.700 GeneticVariation GWASCAT Genetic architecture of human plasma lipidome and its link to cardiovascular disease. 31551469 2019
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: rs138326449
rs138326449
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0392885
Disease:
High density lipoprotein measurement
A 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs5128
rs5128
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C2985280
Disease:
Blood Protein Measurement
C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
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: 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: rs76353203
rs76353203
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0202236
Disease:
Triglycerides measurement
T 0.700 GeneticVariation GWASCAT Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. 28548082 2017
dbSNP: rs76353203
rs76353203
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0392885
Disease:
High density lipoprotein measurement
T 0.700 GeneticVariation GWASCAT Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. 28548082 2017
dbSNP: rs2070667
rs2070667
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0032181
Disease:
Platelet Count measurement
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
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: C0202236
Disease:
Triglycerides 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: 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: 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: 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 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 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: 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: 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 No association between APOC3 gene variant rs2854117 and histological or metabolic parameters of NAFLD was found. 23512881 2013