rs12654264
| Orientation | plus |
| Stabilized | plus |
| Make rs12654264(A;A) |
| Make rs12654264(A;T) |
| Make rs12654264(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 75352778 |
| Gene | HMGCR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12654264 |
| dbSNP (classic) | rs12654264 |
| ClinGen | rs12654264 |
| ebi | rs12654264 |
| HLI | rs12654264 |
| Exac | rs12654264 |
| Gnomad | rs12654264 |
| Varsome | rs12654264 |
| LitVar | rs12654264 |
| Map | rs12654264 |
| PheGenI | rs12654264 |
| Biobank | rs12654264 |
| 1000 genomes | rs12654264 |
| hgdp | rs12654264 |
| ensembl | rs12654264 |
| geneview | rs12654264 |
| scholar | rs12654264 |
| rs12654264 | |
| pharmgkb | rs12654264 |
| gwascentral | rs12654264 |
| openSNP | rs12654264 |
| 23andMe | rs12654264 |
| SNPshot | rs12654264 |
| SNPdbe | rs12654264 |
| MSV3d | rs12654264 |
| GWAS Ctlg | rs12654264 |
| GMAF | 0.4164 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 18193044 ]
|
| Trait | LDL cholesterol |
| Title | Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans |
| Risk Allele | T |
| P-val | 9.9999999999999995E-21 |
| Odds Ratio | 0.10 [0.08-0.12] % SD higher |
[PMID 20403997] Genetic variation in 3-hydroxy-3-methylglutaryl CoA reductase modifies the chemopreventive activity of statins for colorectal cancer by Lipkin SM, Chao EC, Moreno V, Rozek LS, Rennert H, Pinchev M, Dizon D, Rennert G, Kopelovich L, Gruber SB in Cancer Prev Res (Phila Pa). 2010 May;3(5):597-603.
The above study shows that genotyping for HMGCR rs1265464 may help identify the subset of individuals who are most likely to achieve a CRC risk reduction and cholesterol lowering with statins. Compared with individuals not taking statins, the unadjusted odds ratio of colorectal cancer among rs12654264(A;A) statin users was 0.3 (CI: 0.18-0.51) and among rs12654264(T;T) statin users, 0.66 (CI: 0.41-1.06, p-interaction 0.0012).
Their data may advance the development of personalized statin use for reducing the risk of cancer as well as cardiovascular disease among the approximately 25 million people currently using statins worldwide.
[PMID 20403997] Genetic Variation in 3-Hydroxy-3-Methylglutaryl CoA Reductase Modifies the Chemopreventive Activity of Statins for Colorectal Cancer
[PMID 19773416] A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women
[PMID 21149302] Effects of genetic variants on lipid parameters and dyslipidemia in a Chinese population
| GWAS snp | |
|---|---|
| PMID | [PMID 21909109] |
| Trait | |
| Title | Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. |
| Risk Allele | T |
| P-val | 1E-20 |
| Odds Ratio | 2.7106 [2.14-3.28] mg/dL decrease |
[PMID 18802019] Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.
[PMID 18852197] Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.
[PMID 19060910] Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
[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 19299407] Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample.
[PMID 19435741] Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.
[PMID 19554360] The HMG-CoA reductase gene and lipid and lipoprotein levels: the multi-ethnic study of atherosclerosis.
[PMID 19682379] TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population.
[PMID 19951432] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
[PMID 20502693] Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.
[PMID 20972250] Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.
[PMID 23098650] Impact of variants within seven candidate genes on statin treatment efficacy
| ClinVar | |
|---|---|
| Risk | rs12654264(T;T) |
| Alt | rs12654264(T;T) |
| Reference | rs12654264(A;A) |
| Significance | Other |
| Disease | Low density lipoprotein cholesterol level quantitative trait locus 3 |
| Variation | info |
| Gene | HMGCR |
| CLNDBN | Low density lipoprotein cholesterol level quantitative trait locus 3 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.74648603A>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016032.3, |
