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: 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: 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: rs2854117
rs2854117
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE We examined whether APOC3 single nucleotide polymorphisms (SNPs) m482 (rs2854117) and 3u386 (rs5128) were related to cognitive measures, whether the associations between cognitive differences and genotype were related to metabolic differences, and how diabetes status affected these associations. 19424489 2009
dbSNP: rs2854117
rs2854117
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE We examined whether APOC3 single nucleotide polymorphisms (SNPs) m482 (rs2854117) and 3u386 (rs5128) were related to cognitive measures, whether the associations between cognitive differences and genotype were related to metabolic differences, and how diabetes status affected these associations. 19424489 2009
dbSNP: rs5128
rs5128
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE We examined whether APOC3 single nucleotide polymorphisms (SNPs) m482 (rs2854117) and 3u386 (rs5128) were related to cognitive measures, whether the associations between cognitive differences and genotype were related to metabolic differences, and how diabetes status affected these associations. 19424489 2009
dbSNP: rs5128
rs5128
Entrez Id: 345
Gene Symbol: APOC3
APOC3
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE We examined whether APOC3 single nucleotide polymorphisms (SNPs) m482 (rs2854117) and 3u386 (rs5128) were related to cognitive measures, whether the associations between cognitive differences and genotype were related to metabolic differences, and how diabetes status affected these associations. 19424489 2009
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: 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: 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: rs2854117
rs2854117
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: 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
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: 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: 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: 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: 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