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rs3846662

From SNPedia

Orientationminus
Stabilizedminus
Make rs3846662(C;C)
Make rs3846662(C;T)
Make rs3846662(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position75355259
GeneHMGCR
is asnp
is mentioned by
dbSNPrs3846662
ebirs3846662
HLIrs3846662
Exacrs3846662
Varsomers3846662
Maprs3846662
PheGenIrs3846662
hapmaprs3846662
1000 genomesrs3846662
hgdprs3846662
ensemblrs3846662
gopubmedrs3846662
geneviewrs3846662
scholarrs3846662
googlers3846662
pharmgkbrs3846662
gwascentralrs3846662
openSNPrs3846662
23andMers3846662
23andMe allrs3846662
SNP Nexus

SNPshotrs3846662
SNPdbers3846662
MSV3drs3846662
GWAS Ctlgrs3846662
GMAF0.4155
Max Magnitude
? (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 19060911OA-icon.png]
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 21867541OA-icon.png] 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 22654671OA-icon.png] Knowledge-Driven Analysis Identifies a Gene–Gene Interaction Affecting High-Density Lipoprotein Cholesterol Levels in Multi-Ethnic Populations

[PMID 18802019OA-icon.png] Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.

[PMID 19554360OA-icon.png] The HMG-CoA reductase gene and lipid and lipoprotein levels: the multi-ethnic study of atherosclerosis.

[PMID 19802338OA-icon.png] 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 19913121OA-icon.png] Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

[PMID 19951432OA-icon.png] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.

[PMID 20005478OA-icon.png] The role of HMGCR alternative splicing in statin efficacy.

[PMID 20502693OA-icon.png] 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.


GET Evidence
rs3846662
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.584867
summary



[PMID 24001602OA-icon.png] HNRNPA1 regulates HMGCR alternative splicing and modulates cellular cholesterol metabolism