rs3846662
| Orientation | minus |
| Stabilized | minus |
| Make rs3846662(C;C) |
| Make rs3846662(C;T) |
| Make rs3846662(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 75355259 |
| Gene | HMGCR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3846662 |
| dbSNP (classic) | rs3846662 |
| ClinGen | rs3846662 |
| ebi | rs3846662 |
| HLI | rs3846662 |
| Exac | rs3846662 |
| Gnomad | rs3846662 |
| Varsome | rs3846662 |
| LitVar | rs3846662 |
| Map | rs3846662 |
| PheGenI | rs3846662 |
| Biobank | rs3846662 |
| 1000 genomes | rs3846662 |
| hgdp | rs3846662 |
| ensembl | rs3846662 |
| geneview | rs3846662 |
| scholar | rs3846662 |
| rs3846662 | |
| pharmgkb | rs3846662 |
| gwascentral | rs3846662 |
| openSNP | rs3846662 |
| 23andMe | rs3846662 |
| SNPshot | rs3846662 |
| SNPdbe | rs3846662 |
| MSV3d | rs3846662 |
| GWAS Ctlg | rs3846662 |
| GMAF | 0.4155 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
news three SNPs that appear to have different effects in men and women rs3846662 rs2304130 rs2083637
journal LDL-Cholesterol minor allele was associated with up to 2.2-fold lower expression
| 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 | 3E-19 |
| Odds Ratio | 0.09 [NR] SD increase |
[PMID 20145341] Association of the Functional Variant in the 3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase Gene With Low-Density Lipoprotein-Cholesterol in Japanese
[PMID 21427285] Effect of HMGCR Variant Alleles on Low-Density Lipoprotein Cholesterol-Lowering Response to Atorvastatin in Healthy Korean Subjects
[PMID 21867541] Evaluation of the global association between cholesterol-associated polymorphisms and Alzheimer's disease suggests a role for rs3846662 and HMGCR splicing in disease risk
[PMID 22654671] Knowledge-Driven Analysis Identifies a Gene–Gene Interaction Affecting High-Density Lipoprotein Cholesterol Levels in Multi-Ethnic Populations
[PMID 18802019] Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.
[PMID 19554360] The HMG-CoA reductase gene and lipid and lipoprotein levels: the multi-ethnic study of atherosclerosis.
[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 19913121] Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
[PMID 19951432] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
[PMID 20005478] The role of HMGCR alternative splicing in statin efficacy.
[PMID 20502693] Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.
[PMID 20832063] Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study.
[PMID 24001602] HNRNPA1 regulates HMGCR alternative splicing and modulates cellular cholesterol metabolism
