Rs4363657

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is asnp
is mentioned by
dbSNPrs4363657
nextbiors4363657
hapmaprs4363657
1000 genomesrs4363657
hgdprs4363657
ensemblrs4363657
gopubmedrs4363657
scholarrs4363657
googlers4363657
pharmgkbrs4363657
gwascentralrs4363657
openSNPrs4363657
23andMers4363657
23andMe allrs4363657
SNP Nexus

SNPshotrs4363657
SNPdbers4363657
MSV3drs4363657
GeneSLCO1B1
Chromosome12
Orientationplus
Position21368722
ReferenceGRCh37 37.1/131
Max Magnitude4
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
? (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.

OMIM604843
DescSOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1; SLCO1B1
Variant
Relatedalso
PharmGKBPA162356045
Name
AnnotationThis SNP located within SLCO1B1 on chromosome 12 yielded a single strong association of myopathy in a genomewide scan.
GeneSLCO1B1
Featue
EvidencePubMed ID:18650507
Drugs
DiseasesMuscular Diseases, Myopathy, Central Core
Curation LevelCurated


[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

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