rs4939883
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 1.5 | associated with higher HDL cholesterol |
| (C;T) | 1.5 | associated with higher HDL cholesterol |
| Make rs4939883(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 49640844 |
| Gene | LOC105372112 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4939883 |
| dbSNP (classic) | rs4939883 |
| ClinGen | rs4939883 |
| ebi | rs4939883 |
| HLI | rs4939883 |
| Exac | rs4939883 |
| Gnomad | rs4939883 |
| Varsome | rs4939883 |
| LitVar | rs4939883 |
| Map | rs4939883 |
| PheGenI | rs4939883 |
| Biobank | rs4939883 |
| 1000 genomes | rs4939883 |
| hgdp | rs4939883 |
| ensembl | rs4939883 |
| geneview | rs4939883 |
| scholar | rs4939883 |
| rs4939883 | |
| pharmgkb | rs4939883 |
| gwascentral | rs4939883 |
| openSNP | rs4939883 |
| 23andMe | rs4939883 |
| SNPshot | rs4939883 |
| SNPdbe | rs4939883 |
| MSV3d | rs4939883 |
| GWAS Ctlg | rs4939883 |
| GMAF | 0.2346 |
| Max Magnitude | 1.5 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
C allele is associated with 1.87mg/dl increase in HDL cholesterol (good cholesterol). [PMID 18193043
]
| GWAS snp | |
|---|---|
| PMID | [PMID 19060911]
|
| Trait | Cholesterol, total |
| Title | Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts |
| Risk Allele | G |
| P-val | 2E-11 |
| Odds Ratio | 0.07 [NR] SD increase |
| GWAS snp | |
|---|---|
| PMID | [PMID 19060906]
|
| Trait | HDL cholesterol |
| Title | Common variants at 30 loci contribute to polygenic dyslipidemia |
| Risk Allele | T |
| P-val | 7E-15 |
| Odds Ratio | 0.14 [0.10-0.18] SD decrease |
[PMID 19041386] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
[PMID 19185284] Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.
[PMID 19287092] Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans.
[PMID 19435741] Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.
[PMID 19802338] Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.
[PMID 19951432] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
[PMID 20018038] Evaluation of genetic risk scores for lipid levels using genome-wide markers in the Framingham Heart Study.
[PMID 20370913] Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data.
[PMID 20385826] Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
[PMID 20502693] Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.
| GWAS snp | |
|---|---|
| PMID | [PMID 19936222]
|
| Trait | Lipid metabolism phenotypes |
| Title | Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. |
| Risk Allele | |
| P-val | 6E-14 |
| Odds Ratio | 2.53 [NR] unit decrease |
