rs4363657
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 4 | 17x increased myopathy risk for statin users |
| (C;T) | 2.1 | 4.5x increased myopathy risk for statin users |
| (T;T) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 21215788 |
| Gene | SLCO1B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4363657 |
| dbSNP (classic) | rs4363657 |
| ClinGen | rs4363657 |
| ebi | rs4363657 |
| HLI | rs4363657 |
| Exac | rs4363657 |
| Gnomad | rs4363657 |
| Varsome | rs4363657 |
| LitVar | rs4363657 |
| Map | rs4363657 |
| PheGenI | rs4363657 |
| Biobank | rs4363657 |
| 1000 genomes | rs4363657 |
| hgdp | rs4363657 |
| ensembl | rs4363657 |
| geneview | rs4363657 |
| scholar | rs4363657 |
| rs4363657 | |
| pharmgkb | rs4363657 |
| gwascentral | rs4363657 |
| openSNP | rs4363657 |
| 23andMe | rs4363657 |
| SNPshot | rs4363657 |
| SNPdbe | rs4363657 |
| MSV3d | rs4363657 |
| GWAS Ctlg | rs4363657 |
| GMAF | 0.2484 |
| Max Magnitude | 4 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs4363657 is a SNP in the SLCO1B1 gene, a gene which encodes a protein involved in the liver's uptake of certain drugs, including the statins used to lower cholesterol levels.
[PMID 18650507] rs4363657 in nearly complete linkage disequilibrium with rs4149056 SNP (r2=0.97), which has been linked to statin metabolism. rs4149056(C) odds ratio for myopathy among 20,000 individuals taking either 40 or 80mg of simvastatin daily was 4.5 (CI: 2.6-7.7) per copy of the C allele, and 16.9 (CI: 4.7-61.1) in (C;C) as compared with (T;T) homozygotes.
See also rs4149056 for a more detailed description of the effect of SLCO1B1 gene SNPs on the metabolism of many drugs.
[PMID 23942138
] SLCO1B1 genetic variant associated with statin-induced myopathy: a proof-of-concept study using the clinical practice research datalink
| OMIM | 604843 |
| Desc | SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1; SLCO1B1 |
| Variant | |
| Related | also |
[PMID 21646302] Mayo Genome Consortia: A Genotype-Phenotype Resource for Genome-Wide Association Studies With an Application to the Analysis of Circulating Bilirubin Levels
[PMID 21992719] SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed according to ethnicity in the Brazilian general population: Amerindians as a high risk ethnic group
[PMID 19414484] Genome-wide association meta-analysis for total serum bilirubin levels.
[PMID 19460916] Genetic architecture of type 2 diabetes: recent progress and clinical implications.
[PMID 22582980] Genetic predisposition to atorvastatin-induced myopathy: a case report.
[PMID 23708174] Lack of association between SLCO1B1 polymorphisms and clinical myalgia following rosuvastatin therapy.
[PMID 25992810] SLCO1B1 Polymorphism is not associated with Risk of Statin-Induced Myalgia/Myopathy in a Czech Population
[PMID 33150478] Correlation between single-nucleotide polymorphisms and statin-induced myopathy: a mixed-effects model meta-analysis.
