rs3745274
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (T;T) | 2 | If efavirenz is ever prescribed for you, lower doses may be advisable |
| Make rs3745274(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 41006936 |
| Gene | CYP2B6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3745274 |
| dbSNP (classic) | rs3745274 |
| ClinGen | rs3745274 |
| ebi | rs3745274 |
| HLI | rs3745274 |
| Exac | rs3745274 |
| Gnomad | rs3745274 |
| Varsome | rs3745274 |
| LitVar | rs3745274 |
| Map | rs3745274 |
| PheGenI | rs3745274 |
| Biobank | rs3745274 |
| 1000 genomes | rs3745274 |
| hgdp | rs3745274 |
| ensembl | rs3745274 |
| geneview | rs3745274 |
| scholar | rs3745274 |
| rs3745274 | |
| pharmgkb | rs3745274 |
| gwascentral | rs3745274 |
| openSNP | rs3745274 |
| 23andMe | rs3745274 |
| SNPshot | rs3745274 |
| SNPdbe | rs3745274 |
| MSV3d | rs3745274 |
| GWAS Ctlg | rs3745274 |
| GMAF | 0.2677 |
| Max Magnitude | 2 |
aka c.516G>T, p.Gln172His, Q172H
associated with response to efavirenz
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 21715435] Cytochrome P450 2B6 (CYP2B6) and constitutive androstane receptor (CAR) polymorphisms are associated with early discontinuation of efavirenz-containing regimens
[PMID 21790905
] CYP2B6 SNPs are associated with methadone dose required for effective treatment of opioid addiction
[PMID 21886015] Cytochrome P450 CYP2B6 genotypes and haplotypes in a Colombian population: identification of novel variant CYP2B6 alleles
[PMID 18728241] Pharmacokinetics of efavirenz when co-administered with rifampin in TB/HIV co-infected patients: pharmacogenetic effect of CYP2B6 variation.
[PMID 18784455] The pharmacokinetics and pharmacogenomics of efavirenz and lopinavir/ritonavir in HIV-infected persons requiring hemodialysis.
[PMID 19076156] Polymorphisms of drug-metabolizing enzymes (GST, CYP2B6 and CYP3A) affect the pharmacokinetics of thiotepa and tepa.
[PMID 19154420] The impact of cytokines on the expression of drug transporters, cytochrome P450 enzymes and chemokine receptors in human PBMC.
[PMID 19239339] Associations between CYP2B6 polymorphisms and pharmacokinetics after a single dose of nevirapine or efavirenz in African americans.
[PMID 19371316] CYP2B6 (c.516G-->T) and CYP2A6 (*9B and/or *17) polymorphisms are independent predictors of efavirenz plasma concentrations in HIV-infected patients.
[PMID 19659438] CYP2B6 variants and plasma efavirenz concentrations during antiretroviral therapy in Port-au-Prince, Haiti.
[PMID 20459744] Cyclophosphamide-metabolizing enzyme polymorphisms and survival outcomes after adjuvant chemotherapy for node-positive breast cancer: a retrospective cohort study.
[PMID 20723261] Presence of the CYP2B6 516G> T polymorphism, increased plasma Efavirenz concentrations and early neuropsychiatric side effects in South African HIV-infected patients.
[PMID 21172166] Pharmacogenetics of antidepressant response.
[PMID 21694616] CYP2B6 polymorphisms influence the plasma concentration and clearance of the methadone S-enantiomer.
[PMID 21854194] Distribution of polymorphisms in cytochrome P450 2B6, histocompatibility complex P5, chemokine coreceptor 5, and interleukin 28B genes in inhabitants from the central area of Argentina.
[PMID 21860339] Integration of absorption, distribution, metabolism, and elimination genotyping data into a population pharmacokinetic analysis of nevirapine.
[PMID 23080225] Genome-wide association study of plasma efavirenz pharmacokinetics in AIDS Clinical Trials Group protocols implicates several CYP2B6 variants
[PMID 23249875] Contribution of CYP2B6 alleles in explaining extreme (S)-methadone plasma levels: a CYP2B6 gene resequencing study
[PMID 22951632] Underlying genetic structure impacts the association between CYP2B6 polymorphisms and response to efavirenz and nevirapine
[PMID 24080498] Pharmacogenetic associations with plasma efavirenz concentrations and clinical correlates in a retrospective cohort of Ghanaian HIV-infected patients
[PMID 24260284] CYP2B6 Non-Coding Variation Associated with Smoking Cessation Is Also Associated with Differences in Allelic Expression, Splicing, and Nicotine Metabolism Independent of Common Amino-Acid Changes
[PMID 23133420] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.
[PMID 23524664] Influence of the CYP2B6 polymorphism on the pharmacokinetics of mitotane.
[PMID 23996099] ABCB1 and ABCC1 variants associated with virological failure of first-line protease inhibitors antiretroviral regimens in Northeast Brazil patients
| ClinVar | |
|---|---|
| Risk | rs3745274(A;A) Rs3745274(T;T) |
| Alt | rs3745274(A;A) Rs3745274(T;T) |
| Reference | Rs3745274(G;G) |
| Significance | Drug-response |
| Disease | Efavirenz response nevirapine response - Other efavirenz response - Dosage Methadone response - Dosage efavirenz response - Toxicity/ADR |
| Variation | info |
| Gene | CYP2B6 |
| CLNDBN | Efavirenz response nevirapine response - Other efavirenz response - Dosage methadone response - Dosage efavirenz response - Toxicity/ADR |
| Reversed | 0 |
| HGVS | NC_000019.9:g.41512841G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000022520.27, RCV000417133.1, RCV000417159.1, RCV000417161.1, RCV000417174.1, |
[PMID 25428516] Effects of CYP2B6 genetic polymorphisms in patients receiving cyclophosphamide combination chemotherapy for breast cancer
[PMID 26141406] Impact of the Cytochrome P450 2B6 (CYP2B6) Gene Polymorphism c.516G>T (rs3745274) on Propofol Dose Variability
