rs328
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs328(C;G) |
| Make rs328(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 19962213 |
| Gene | LPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs328 |
| dbSNP (classic) | rs328 |
| ClinGen | rs328 |
| ebi | rs328 |
| HLI | rs328 |
| Exac | rs328 |
| Gnomad | rs328 |
| Varsome | rs328 |
| LitVar | rs328 |
| Map | rs328 |
| PheGenI | rs328 |
| Biobank | rs328 |
| 1000 genomes | rs328 |
| hgdp | rs328 |
| ensembl | rs328 |
| geneview | rs328 |
| scholar | rs328 |
| rs328 | |
| pharmgkb | rs328 |
| gwascentral | rs328 |
| openSNP | rs328 |
| 23andMe | rs328 |
| SNPshot | rs328 |
| SNPdbe | rs328 |
| MSV3d | rs328 |
| GWAS Ctlg | rs328 |
| GMAF | 0.09642 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 18193044 |
| Trait | HDL cholesterol |
| Title | Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans |
| Risk Allele | G |
| P-val | 8.9999999999999995E-23 |
| Odds Ratio | 0.17 [0.13-0.21]% SD higher |
| GWAS snp | |
|---|---|
| PMID | [PMID 17463246] |
| Trait | Triglycerides |
| Title | Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels |
| Risk Allele | T |
| P-val | 4.9999999999999998E-7 |
| Odds Ratio | 1.00 % [NR] of variance explained |
[PMID 20429872
] Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study
[PMID 19773416
] A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women
| GWAS snp | |
|---|---|
| PMID | [PMID 22171074] |
| Trait | |
| Title | A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population. |
| Risk Allele | |
| P-val | 1E-9 |
| Odds Ratio | None None |
| ClinVar | |
|---|---|
| Risk | rs328(G;G) |
| Alt | rs328(G;G) |
| Reference | Rs328(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | LIPOPROTEIN LIPASE POLYMORPHISM Hyperlipoproteinemia |
| Variation | info |
| Gene | LPL |
| CLNDBN | LIPOPROTEIN LIPASE POLYMORPHISM Hyperlipoproteinemia, type I |
| Reversed | 0 |
| HGVS | NC_000008.10:g.19819724C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001598.2, RCV000385586.1, |
[PMID 16642433
] Polymorphism in maternal LRP8 gene is associated with fetal growth.
[PMID 16700901
] Physiogenomic analysis of weight loss induced by dietary carbohydrate restriction.
[PMID 17157861
] Associations between HDL-cholesterol and polymorphisms in hepatic lipase and lipoprotein lipase genes are modified by dietary fat intake in African American and White adults.
[PMID 17291198] The lipoprotein lipase gene serine 447 stop variant influences hypertension-induced left ventricular hypertrophy and risk of coronary heart disease.
[PMID 17903299
] A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study.
[PMID 18275964
] Low-density lipoprotein and high-density lipoprotein cholesterol levels in relation to genetic polymorphisms and menopausal status: the Atherosclerosis Risk in Communities (ARIC) Study.
[PMID 18280754
] Cholesterol-related genetic risk scores are associated with hypometabolism in Alzheimer's-affected brain regions.
[PMID 18513389
] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
[PMID 18596051] Polygenic determinants of severe hypertriglyceridemia.
[PMID 18660489] Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
[PMID 18678614
] Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations.
[PMID 18922999] Seven lipoprotein lipase gene polymorphisms, lipid fractions, and coronary disease: a HuGE association review and meta-analysis.
[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 19060910
] Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
[PMID 19131662
] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[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 19197348
] Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
[PMID 19200524
] A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs.
[PMID 19263529
] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[PMID 19299407
] Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample.
[PMID 19336475
] Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.
[PMID 19379518
] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 19408013
] Strategies and issues in the detection of pathway enrichment in genome-wide association studies.
[PMID 19435741
] Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.
[PMID 19474294
] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19557453
] beta-Carotene conversion products and their effects on adipose tissue.
[PMID 19878569
] Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis.
[PMID 19951432
] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
[PMID 20018036
] Using a latent growth curve model for an integrative assessment of the effects of genetic and environmental factors on multiple phenotypes.
[PMID 20018039
] Associating multiple longitudinal traits with high-dimensional single-nucleotide polymorphism data: application to the Framingham Heart Study.
[PMID 20150529
] Associations of lipoprotein lipase gene polymorphisms with longitudinal plasma lipid trends in young adults: The Coronary Artery Risk Development in Young Adults (CARDIA) study.
[PMID 20565774
] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 21316679] Associations between common genetic polymorphisms in the liver X receptor alpha and its target genes with the serum HDL-cholesterol concentration in adolescents of the HELENA Study.
[PMID 21840003] Genetic variations at the lipoprotein lipase gene influence plasma lipid concentrations and interact with plasma n-6 polyunsaturated fatty acids to modulate lipid metabolism.
| GWAS snp | |
|---|---|
| PMID | [PMID 24386095 |
| Trait | Lipid traits |
| Title | A genome wide association study identifies common variants associated with lipid levels in the Chinese population. |
| Risk Allele | G |
| P-val | 3E-10 |
| Odds Ratio | .07 [0.026-0.116] mmol/L decrease |
[PMID 25671407] A Systems Genetics Approach to Dyslipidemia in Children and Adolescents
[PMID 28115978
] High fat diet modifies the association of lipoprotein lipase gene polymorphism with high density lipoprotein cholesterol in an Asian Indian population.
[PMID 28143480
] Common variants in the genes of triglyceride and HDL-C metabolism lack association with coronary artery disease in the Pakistani subjects.
