Rs3135506
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3135506 |
| PheGenI | rs3135506 |
| nextbio | rs3135506 |
| hapmap | rs3135506 |
| 1000 genomes | rs3135506 |
| hgdp | rs3135506 |
| ensembl | rs3135506 |
| gopubmed | rs3135506 |
| geneview | rs3135506 |
| scholar | rs3135506 |
| rs3135506 | |
| pharmgkb | rs3135506 |
| gwascentral | rs3135506 |
| openSNP | rs3135506 |
| 23andMe | rs3135506 |
| 23andMe all | rs3135506 |
| SNP Nexus | |
| SNPshot | rs3135506 |
| SNPdbe | rs3135506 |
| MSV3d | rs3135506 |
| Gene | APOA5 |
| Merged from | Rs28939090 |
| Chromosome | 11 |
| Orientation | plus |
| Position | 116662407 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (G;C) | ||
| (G;G) | 0 | common on affy axiom data |
| Make rs3135506(C;C) |
| Make rs3135506(C;G) |
Rs3135506 (also known as S19W) is associated with severe hypertriglyceridemia. 132 patients of European ancestry with severe HTG (fasting plasma TG>10 mmol/L), and 351 matched normolipidemic controls.
It is discussed in [PMID 17211608]; however, the SNP that prevents weight gain from high fat diets is rs662799.
| Neighbor | rs28939090 |
| Distance | 1 |
[PMID 19629056] Apolipoprotein A5 and Lipoprotein Lipase Interact to Modulate Anthropometric Measures in Hispanics of Caribbean Origin
[PMID 20395964] Different effects of apolipoprotein A5 SNPs and haplotypes on triglyceride concentration in three ethnic origins
[PMID 20429872] Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study
[PMID 20883102] Haplotype analysis of the apolipoprotein A5 gene in obese pediatric patients
| ? | (C;C) (C;G) (G;G) | |
|---|---|---|
[PMID 22425169] Vitamin D dependent effects of APOA5 polymorphisms on HDL cholesterol.
| ClinVar | |
|---|---|
| Risk | rs3135506(G;G) |
| Normal | rs3135506(C;C) |
| Significance | 255 |
| Disease | |
| ClinVar | info |
| Gene | APOA5 |
| CLNDBN | |
| Reversed | 1 |
| CLNHGVS | NC_000011.8:g.116167617G>C |
| CLNSRC | |
[PMID 17357083] Medical sequencing at the extremes of human body mass.
[PMID 17903299] A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study.
[PMID 18441017] An apolipoprotein A-V gene SNP is associated with marked hypertriglyceridemia among Asian-American patients.
[PMID 18596051] Polygenic determinants of severe hypertriglyceridemia.
[PMID 18660489] Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
[PMID 18789138] The APOA5 Trp19 allele is associated with metabolic syndrome via its association with plasma triglycerides.
[PMID 18801202] Genetic studies on the APOA1-C3-A5 gene cluster in Asian Indians with premature coronary artery disease.
[PMID 18974842] Gender differences in genetic risk profiles for cardiovascular disease.
[PMID 19018513] The association of common genetic variants in the APOA5, LPL and GCK genes with longitudinal changes in metabolic and cardiovascular traits.
[PMID 19041386] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
[PMID 19056598] Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fasting, postprandial, and fenofibrate-treated states.
[PMID 19057464] Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the genetics of lipid-lowering drugs and diet network study.
[PMID 19148283] Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.
[PMID 19185284] Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.
[PMID 19435741] Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.
[PMID 19787382] Introduction to the DISRUPT postprandial database: subjects, studies and methodologies.
[PMID 19878569] Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis.
[PMID 19910639] Genetic association and interaction analysis of USF1 and APOA5 on lipid levels and atherosclerosis.
[PMID 20406163] Fenofibrate and metabolic syndrome.
[PMID 21671989] Dosing equation for tacrolimus using genetic variants and clinical factors.
| GET Evidence | |
|---|---|
| APOA5-S19W | |
| aa_change | Ser19Trp |
| aa_change_short | S19W |
| impact | pathogenic |
| qualified_impact | Low clinical importance, Likely pathogenic |
| overall_frequency | 0.0646151 |
| summary | This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found. |
