rs28399499
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs28399499(C;C) |
| Make rs28399499(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 41012316 |
| Gene | CYP2B6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28399499 |
| dbSNP (classic) | rs28399499 |
| ClinGen | rs28399499 |
| ebi | rs28399499 |
| HLI | rs28399499 |
| Exac | rs28399499 |
| Gnomad | rs28399499 |
| Varsome | rs28399499 |
| LitVar | rs28399499 |
| Map | rs28399499 |
| PheGenI | rs28399499 |
| Biobank | rs28399499 |
| 1000 genomes | rs28399499 |
| hgdp | rs28399499 |
| ensembl | rs28399499 |
| geneview | rs28399499 |
| scholar | rs28399499 |
| rs28399499 | |
| pharmgkb | rs28399499 |
| gwascentral | rs28399499 |
| openSNP | rs28399499 |
| 23andMe | rs28399499 |
| SNPshot | rs28399499 |
| SNPdbe | rs28399499 |
| MSV3d | rs28399499 |
| GWAS Ctlg | rs28399499 |
| GMAF | 0.0202 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[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 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 23080225] Genome-wide association study of plasma efavirenz pharmacokinetics in AIDS Clinical Trials Group protocols implicates several CYP2B6 variants
[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
| ClinVar | |
|---|---|
| Risk | rs28399499(C;C) |
| Alt | rs28399499(C;C) |
| Reference | Rs28399499(T;T) |
| Significance | Drug-response |
| Disease | efavirenz response - Metabolism/PK nevirapine response - Other |
| Variation | info |
| Gene | CYP2B6 |
| CLNDBN | efavirenz response - Metabolism/PK nevirapine response - Other |
| Reversed | 0 |
| HGVS | NC_000019.9:g.41518221T>C |
| CLNSRC | PharmGKB Clinical Annotation |
| CLNACC | RCV000211262.1, RCV000211386.1, |
[PMID 29762688] A multivariate genetic analysis confirms rs5010528 in the human leucocyte antigen-C locus as a significant contributor to Stevens-Johnson syndrome/toxic epidermal necrolysis susceptibility in a Mozambique HIV population treated with nevirapine.
