rs12740374
| Orientation | plus |
| Stabilized | plus |
| Make rs12740374(G;G) |
| Make rs12740374(G;T) |
| Make rs12740374(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 109274968 |
| Gene | CELSR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12740374 |
| dbSNP (classic) | rs12740374 |
| ClinGen | rs12740374 |
| ebi | rs12740374 |
| HLI | rs12740374 |
| Exac | rs12740374 |
| Gnomad | rs12740374 |
| Varsome | rs12740374 |
| LitVar | rs12740374 |
| Map | rs12740374 |
| PheGenI | rs12740374 |
| Biobank | rs12740374 |
| 1000 genomes | rs12740374 |
| hgdp | rs12740374 |
| ensembl | rs12740374 |
| geneview | rs12740374 |
| scholar | rs12740374 |
| rs12740374 | |
| pharmgkb | rs12740374 |
| gwascentral | rs12740374 |
| openSNP | rs12740374 |
| 23andMe | rs12740374 |
| SNPshot | rs12740374 |
| SNPdbe | rs12740374 |
| MSV3d | rs12740374 |
| GWAS Ctlg | rs12740374 |
| GMAF | 0.1864 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins found each minor allele to increase statin effectiveness by 1.3% (rs646776, β=−0.013, s.e.=0.002, P=1.05 × 10−9 and rs12740374, β=−0.013, s.e.=0.002, P=1.05 × 10−9).
| GWAS snp | |
|---|---|
| PMID | [PMID 19060906 ]
|
| Trait | LDL cholesterol |
| Title | Common variants at 30 loci contribute to polygenic dyslipidemia |
| Risk Allele | T |
| P-val | 2E-42 |
| Odds Ratio | 0.23 [0.19-0.27] SD decrease |
[PMID 20686566] From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
| GWAS snp | |
|---|---|
| PMID | [PMID 21347282]
|
| Trait | |
| Title | Genome-Wide Association Study of Coronary Heart Disease and Its Risk Factors in 8,090 African Americans: The NHLBI CARe Project |
| Risk Allele | G |
| P-val | 9E-29 |
| Odds Ratio | 0.1815 [0.15-0.21] SD decrease |
[PMID 22539988] Evaluation of the Metabochip Genotyping Array in African Americans and Implications for Fine Mapping of GWAS-Identified Loci: The PAGE Study
[PMID 18262040] LDL-cholesterol concentrations: a genome-wide association study.
[PMID 19299407] Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample.
[PMID 19822575] Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing.
[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.
| GWAS snp | |
|---|---|
| PMID | [PMID 23118302] |
| Trait | Lipoprotein-associated phospholipase A2 activity and mass |
| Title | Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. |
| Risk Allele | T |
| P-val | 2E-22 |
| Odds Ratio | .03 [0.027-0.042] ng/ml decrease |
[PMID 24059109] [Association between SNP rs12740374 and acute ischemic stroke in Chinese Han population]
[PMID 23723249] GWAS3D: Detecting human regulatory variants by integrative analysis of genome-wide associations, chromosome interactions and histone modifications.
[PMID 24922790] 214 Generation of Isogenic Cell Lines to Study a Single Disease Associated Variant at the 1P13 Cad Risk Locus
| ClinVar | |
|---|---|
| Risk | rs12740374(T;T) |
| Alt | rs12740374(T;T) |
| Reference | rs12740374(G;G) |
| Significance | Other |
| Disease | Low density lipoprotein cholesterol level quantitative trait locus 6 |
| Variation | info |
| Gene | CELSR2 |
| CLNDBN | Low density lipoprotein cholesterol level quantitative trait locus 6 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.109817590G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007497.2, |
[PMID 29356453] Association between 1p13 polymorphisms and peripheral arterial disease in a Chinese population with diabetes.
