rs2306283
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs2306283(C;C) |
| Make rs2306283(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 21176804 |
| Gene | SLCO1B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2306283 |
| dbSNP (classic) | rs2306283 |
| ClinGen | rs2306283 |
| ebi | rs2306283 |
| HLI | rs2306283 |
| Exac | rs2306283 |
| Gnomad | rs2306283 |
| Varsome | rs2306283 |
| LitVar | rs2306283 |
| Map | rs2306283 |
| PheGenI | rs2306283 |
| Biobank | rs2306283 |
| 1000 genomes | rs2306283 |
| hgdp | rs2306283 |
| ensembl | rs2306283 |
| geneview | rs2306283 |
| scholar | rs2306283 |
| rs2306283 | |
| pharmgkb | rs2306283 |
| gwascentral | rs2306283 |
| openSNP | rs2306283 |
| 23andMe | rs2306283 |
| SNPshot | rs2306283 |
| SNPdbe | rs2306283 |
| MSV3d | rs2306283 |
| GWAS Ctlg | rs2306283 |
| GMAF | 0.405 |
| Max Magnitude | 0 |
| ? | (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 22808112
] Liver Enzyme Abnormalities and Associated Risk Factors in HIV Patients on Efavirenz-Based HAART with or without Tuberculosis Co-Infection in Tanzania
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 19419973] Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
[PMID 20389299] Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.
[PMID 21178985] 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?
[PMID 22562052] SLCO1B1 *15 haplotype is associated with rifampin-induced liver injury.
[PMID 23100282] Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.
[PMID 23133420] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.
[PMID 23471819] 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 26334272] SLCO1B1 c.388A>G Polymorphism Is Associated with HDL-C Levels in Response to Atorvastatin in Chilean Individuals
| ClinVar | |
|---|---|
| Risk | rs2306283(C;C) |
| Alt | rs2306283(C;C) |
| Reference | Rs2306283(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Rotor syndrome |
| Variation | info |
| Gene | SLCO1B1 |
| CLNDBN | not specified Rotor syndrome |
| Reversed | 1 |
| HGVS | NC_000012.11:g.21329738A>G |
| CLNSRC | |
| CLNACC | RCV000251891.1, RCV000405902.1, |
[PMID 33501733] Genetic factors involved in delayed methotrexate elimination in children with acute lymphoblastic leukemia.
