rs2279343
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (G;G) | 2 | Lower doses of efavirenz for treating HIV may be recommended |
| Make rs2279343(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 41009358 |
| Gene | CYP2B6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2279343 |
| dbSNP (classic) | rs2279343 |
| ClinGen | rs2279343 |
| ebi | rs2279343 |
| HLI | rs2279343 |
| Exac | rs2279343 |
| Gnomad | rs2279343 |
| Varsome | rs2279343 |
| LitVar | rs2279343 |
| Map | rs2279343 |
| PheGenI | rs2279343 |
| Biobank | rs2279343 |
| 1000 genomes | rs2279343 |
| hgdp | rs2279343 |
| ensembl | rs2279343 |
| geneview | rs2279343 |
| scholar | rs2279343 |
| rs2279343 | |
| pharmgkb | rs2279343 |
| gwascentral | rs2279343 |
| openSNP | rs2279343 |
| 23andMe | rs2279343 |
| SNPshot | rs2279343 |
| SNPdbe | rs2279343 |
| MSV3d | rs2279343 |
| GWAS Ctlg | rs2279343 |
| Merged from | Rs28399497 |
| Max Magnitude | 2 |
rs2279343, also known as c.785A>G, p.Lys262Arg and K262R, is a SNP within the CYP2B6 gene.
associated with response to efavirenz
[PMID 12642465] variants including the Arg allele include CYP2B6*4, CYP2B6*6, and CYP2B6*7
[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 19076156] Polymorphisms of drug-metabolizing enzymes (GST, CYP2B6 and CYP3A) affect the pharmacokinetics of thiotepa and tepa.
[PMID 19239339] Associations between CYP2B6 polymorphisms and pharmacokinetics after a single dose of nevirapine or efavirenz in African americans.
[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 21694616] CYP2B6 polymorphisms influence the plasma concentration and clearance of the methadone S-enantiomer.
[PMID 23249875] Contribution of CYP2B6 alleles in explaining extreme (S)-methadone plasma levels: a CYP2B6 gene resequencing study
[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 23104099] Multiple genetic variants predict steady-state nevirapine clearance in HIV-infected Cambodians.
[PMID 23133420] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.
| ClinVar | |
|---|---|
| Risk | Rs2279343(G;G) |
| Alt | Rs2279343(G;G) |
| Reference | Rs2279343(A;A) |
| Significance | Drug-response |
| Disease | Efavirenz response efavirenz response - Metabolism/PK |
| Variation | info |
| Gene | CYP2B6 |
| CLNDBN | Efavirenz response efavirenz response - Metabolism/PK |
| Reversed | 0 |
| HGVS | NC_000019.9:g.41515263A>G |
| CLNSRC | OMIM Allelic Variant PharmGKB Clinical Annotation UniProtKB (protein) |
| CLNACC | RCV000106294.2, RCV000211381.1, |
[PMID 25428516] Effects of CYP2B6 genetic polymorphisms in patients receiving cyclophosphamide combination chemotherapy for breast cancer
