{{Rsnum
|rsid=3745274
|Gene=CYP2B6
|Chromosome=19
|position=41006936
|Orientation=plus
|GMAF=0.2677
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=CYP2B6
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 53.1 | 39.8 | 7.1
| HCB | 66.4 | 29.2 | 4.4
| JPT | 65.5 | 28.3 | 6.2
| YRI | 33.6 | 48.6 | 17.8
| ASW | 47.4 | 45.6 | 7.0
| CHB | 66.4 | 29.2 | 4.4
| CHD | 68.8 | 28.4 | 2.8
| GIH | 35.6 | 44.6 | 19.8
| LWK | 46.8 | 40.4 | 12.8
| MEX | 46.6 | 50.0 | 3.4
| MKK | 39.9 | 47.1 | 13.1
| TSI | 52.0 | 39.2 | 8.8
| HapMapRevision=28
}}{{PharmGKB
|RSID=rs3745274
|Name_s=CYP2B6*6, CYP2B6:516G>T
|Gene_s=CYP2B6, CYP2A7P1
|Feature=Exon/NonSyn, Intron
|Evidence=PubMed ID:19005482
|Annotation=Risk or phenotype-associated allele: T. Phenotype: CYP2B6*6 genotype of the transplant donor was associated with toxicity and venoocclusive disease of the liver in the recipient. Study size:107 . Study population/ethnicity: Donors and patients with leukemia after HLA-identical hematopoietic stem cell transplantation, France. Significance metric(s): p = 0.03. Type of association: TOX
|Drugs=cyclophosphamide
|Drug Classes=
|Diseases=Drug Toxicity
|Curation Level=Curated
|PharmGKB Accession ID=PA165282246
}}

{{PharmGKB
|RSID=rs3745274
|Name_s=CYP2B6: 516G>T; Q172H
|Gene_s=CYP2B6, CYP2A7P1
|Feature=Exon/NonSyn, Intron
|Evidence=PubMed ID:15194512; PubMed ID:17559344; PubMed ID:17638512; PubMed ID:18171905
|Annotation=This variant in exon 4 together with K262R in exon 5 are the determining SNP of the *6 allele. *6 occurs with high frequency across different populations. A study in human liver microsomes found the CYP2B6*6 allele was significantly associated with a pronounced decrease in CYP2B6 expression and activity, as well as a low rate of efavirenz 8-hydroxylation. In a study in HIV-1 patients treated with efavirenz, the mean plasma efavirenz concentration of patients with CYP2B6 *6/*6 was significantly higher than that of patients with genotypes *6 heterozygote or without alleles *6. In vitro expression studies found the 516G>T variant as the causal sequence variation for severely decreased expression and function associated with CYP2B6*6.
|Drugs=efavirenz
|Drug Classes=
|Diseases=HIV Infections
|Curation Level=Curated
|PharmGKB Accession ID=PA162355700
}}

{{PharmGKB
|RSID=rs3745274
|Name_s=CYP2B6:516G>T; part of CYP2B6*6; CYP2B6:Gln172His
|Gene_s=CYP2B6, CYP2A7P1
|Feature=Exon/NonSyn, Intron
|Evidence=Web Resource:http://www.pharmgkb.org/search/annotatedGene/cyp2b6/variant.jsp
|Annotation=CYP2B6:516G>T is part of the CYP2B6 haplotype. It has been associated with lower activity and response to NNRTIs. See VIP annotation for more details.
|Drugs=efavirenz; nevirapine
|Drug Classes=
|Diseases=
|Curation Level=In-Depth
|PharmGKB Accession ID=PA164891492
}}

{{PMID Auto
|PMID=21715435
|Title=Cytochrome P450 2B6 (CYP2B6) and constitutive androstane receptor (CAR) polymorphisms are associated with early discontinuation of efavirenz-containing regimens
}}

{{PMID Auto
|PMID=21790905
|Title=CYP2B6 SNPs are associated with methadone dose required for effective treatment of opioid addiction
}}

{{PMID Auto
|PMID=21886015
|Title=Cytochrome P450 CYP2B6 genotypes and haplotypes in a Colombian population: identification of novel variant CYP2B6 alleles
}}

{{PMID|18728241|OA=1
}} Pharmacokinetics of efavirenz when co-administered with rifampin in TB/HIV co-infected patients: pharmacogenetic effect of CYP2B6 variation.

{{PMID|18784455|OA=1
}} The pharmacokinetics and pharmacogenomics of efavirenz and lopinavir/ritonavir in HIV-infected persons requiring hemodialysis.

{{PMID|19076156|OA=1
}} Polymorphisms of drug-metabolizing enzymes (GST, CYP2B6 and CYP3A) affect the pharmacokinetics of thiotepa and tepa.

{{PMID|19154420|OA=1
}} The impact of cytokines on the expression of drug transporters, cytochrome P450 enzymes and chemokine receptors in human PBMC.

{{PMID|19239339|OA=1
}} Associations between CYP2B6 polymorphisms and pharmacokinetics after a single dose of nevirapine or efavirenz in African americans.

{{PMID|19371316|OA=1
}} CYP2B6 (c.516G-->T) and CYP2A6 (*9B and/or *17) polymorphisms are independent predictors of efavirenz plasma concentrations in HIV-infected patients.

{{PMID|19659438|OA=1
}} CYP2B6 variants and plasma efavirenz concentrations during antiretroviral therapy in Port-au-Prince, Haiti.

{{PMID|20459744|OA=1
}} Cyclophosphamide-metabolizing enzyme polymorphisms and survival outcomes after adjuvant chemotherapy for node-positive breast cancer: a retrospective cohort study.

{{PMID|20723261|OA=1
}} Presence of the CYP2B6 516G> T polymorphism, increased plasma Efavirenz concentrations and early neuropsychiatric side effects in South African HIV-infected patients.

{{PMID|21172166|OA=1
}} 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 Auto
|PMID=23080225
|Title=Genome-wide association study of plasma efavirenz pharmacokinetics in AIDS Clinical Trials Group protocols implicates several CYP2B6 variants
|OA=1
}}

{{GET Evidence
|gene=CYP2B6
|aa_change=Gln172His
|aa_change_short=Q172H
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3745274
|overall_frequency_n=3138
|overall_frequency_d=10758
|overall_frequency=0.29169
|n_genomes=32
|n_genomes_annotated=0
|n_haplomes=38
|n_articles=1
|n_articles_annotated=1
|in_pharmgkb=Y
|pph2_score=0.009
|nblosum100=-1
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23249875
|Title=Contribution of CYP2B6 alleles in explaining extreme (S)-methadone plasma levels:  a CYP2B6 gene resequencing study
}}

{{PMID Auto
|PMID=22951632
|Title=Underlying genetic structure impacts the association between CYP2B6 polymorphisms and response to efavirenz and nevirapine
|OA=1
}}

{{PMID Auto
|PMID=24080498
|Title=Pharmacogenetic associations with plasma efavirenz concentrations and clinical correlates in a retrospective cohort of Ghanaian HIV-infected patients
}}

{{PMID Auto
|PMID=24260284
|Title=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
|OA=1
}}

{{PMID Auto
|PMID=23133420
|Title=Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.
|OA=1
}}

{{PMID Auto
|PMID=23524664
|Title=Influence of the CYP2B6 polymorphism on the pharmacokinetics of mitotane.
}}

{{PMID Auto
|PMID=23996099
|Title=ABCB1 and ABCC1 variants associated with virological failure of first-line protease inhibitors antiretroviral regimens in Northeast Brazil patients
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Illumina Human 1M}}