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rs2306283

From SNPedia

Orientationminus
Stabilizedminus
Make rs2306283(C;C)
Make rs2306283(C;T)
Make rs2306283(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position21176804
GeneSLCO1B1
is asnp
is mentioned by
dbSNPrs2306283
ebirs2306283
HLIrs2306283
Exacrs2306283
Varsomers2306283
Maprs2306283
PheGenIrs2306283
hapmaprs2306283
1000 genomesrs2306283
hgdprs2306283
ensemblrs2306283
gopubmedrs2306283
geneviewrs2306283
scholarrs2306283
googlers2306283
pharmgkbrs2306283
gwascentralrs2306283
openSNPrs2306283
23andMers2306283
23andMe allrs2306283
SNP Nexus

SNPshotrs2306283
SNPdbers2306283
MSV3drs2306283
GWAS Ctlgrs2306283
GMAF0.405
Max Magnitude
? (C;C) (C;T) (T;T) 28
rs2306283 (Asn130Asp/N130D, A388G/388A>G) is a SNP within SLCO1B1 (Solute carrier organic anion transporter family member 1B1). A G at this location denotes the SLCO1B1*1B allele.

[PMID 18854776] among 8 healthy volunteers with *1B/*1B genotypes and 16 with the *1A/*1A genotype, *1B/*1B genotype associated with reduced plasma concentrations of repaglinide (but not nateglinide) consistent with increased hepatic uptake by SLCO1B1 (but w/ limited effects on nateglinide pharmacokinetics)

news rs2306283 influences statin-related myopathy risk







[PMID 21630030] Frequency of the SLCO1B1 388A>G and the 521T>C polymorphism in Tanzania genotyped by a new LightCycler®-based method


[PMID 22189199] Genetic variation at the SLCO1B1 gene locus and low density lipoprotein cholesterol lowering response to pravastatin in the elderly


[PMID 22808112OA-icon.png] Liver Enzyme Abnormalities and Associated Risk Factors in HIV Patients on Efavirenz-Based HAART with or without Tuberculosis Co-Infection in Tanzania

[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.

[PMID 19419973OA-icon.png] Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.

[PMID 20389299OA-icon.png] Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.

[PMID 21178985OA-icon.png] Common nonsynonymous substitutions in SLCO1B1 predispose to statin intolerance in routinely treated individuals with type 2 diabetes: a go-DARTS study.

[PMID 21892003] Single nucleotide polymorphisms of ABCC5 and ABCG1 transporter genes correlate to irinotecan-associated gastrointestinal toxicity in colorectal cancer patients: a DMET microarray profiling study.

[PMID 21928084] SLCO1B1 haplotypes are not associated with atorvastatin-induced myalgia in Brazilian patients with familial hypercholesterolemia.

[PMID 22136368] Influence of genomic ancestry on the distribution of SLCO1B1, SLCO1B3 and ABCB1 gene polymorphisms among Brazilians.

[PMID 22580719] UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms versus neonatal hyperbilirubinemia: is there an association?


GET Evidence
SLCO1B1-N130D
aa_change Asn130Asp
aa_change_short N130D
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.527793
summary Low plasma AUC but no change in in-vitro transport with pravastatin.



[PMID 22562052] SLCO1B1 *15 haplotype is associated with rifampin-induced liver injury.


[PMID 23100282OA-icon.png] Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.


[PMID 23133420OA-icon.png] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.


[PMID 23471819OA-icon.png] Direct and rapid genotyping of SLCO1B1 388A>G and 521T>C in human blood specimens using the SmartAmp-2 method.


[PMID 23480028] Fentanyl pharmacokinetics is not dependent on hepatic uptake by organic anion-transporting polypeptide 1B1 in human beings.


[PMID 24865931] Combined effects of the UGT1A1 and OATP2 gene polymorphisms as major risk factor for unconjugated hyperbilirubinemia in Indian neonates


[PMID 25926430] Ethnic Variability in the Expression of Hepatic Drug Transporters: Absolute Quantification by an Optimized Targeted Quantitative Proteomic Approach


[PMID 26334272OA-icon.png] SLCO1B1 c.388A>G Polymorphism Is Associated with HDL-C Levels in Response to Atorvastatin in Chilean Individuals