SNP Detail Info-rs2279343

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.41009358A>G
GRCh37.p13 chr 19	NC_000019.9:g.41515263A>G
CYP2B6 RefSeqGene	NG_007929.1:g.23060A>G

Gene: CYP2B6, cytochrome P450 family 2 subfamily B member 6(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CYP2B6 transcript	NM_000767.4:c.785A>G	K [AAG]> R [AGG]	Coding Sequence Variant
cytochrome P450 2B6 precursor	NP_000758.1:p.Lys...NP_000758.1:p.Lys262Arg	K [Lys]> R [Arg]	Missense Variant
CYP2B6 transcript variant X5	XM_011526548.2:c.	N/A	Intron Variant
CYP2B6 transcript variant X7	XM_011526550.2:c.	N/A	Intron Variant
CYP2B6 transcript variant X1	XM_006723050.3:c....XM_006723050.3:c.785A>G	K [AAG]> R [AGG]	Coding Sequence Variant
cytochrome P450 2B6 isoform X1	XP_006723113.1:p....XP_006723113.1:p.Lys262Arg	K [Lys]> R [Arg]	Missense Variant
CYP2B6 transcript variant X2	XM_005258569.4:c....XM_005258569.4:c.785A>G	K [AAG]> R [AGG]	Coding Sequence Variant
cytochrome P450 2B6 isoform X2	XP_005258626.1:p....XP_005258626.1:p.Lys262Arg	K [Lys]> R [Arg]	Missense Variant
CYP2B6 transcript variant X3	XM_011526546.2:c....XM_011526546.2:c.785A>G	K [AAG]> R [AGG]	Coding Sequence Variant
cytochrome P450 2B6 isoform X3	XP_011524848.1:p....XP_011524848.1:p.Lys262Arg	K [Lys]> R [Arg]	Missense Variant
CYP2B6 transcript variant X4	XM_011526547.2:c....XM_011526547.2:c.785A>G	K [AAG]> R [AGG]	Coding Sequence Variant
cytochrome P450 2B6 isoform X4	XP_011524849.1:p....XP_011524849.1:p.Lys262Arg	K [Lys]> R [Arg]	Missense Variant
CYP2B6 transcript variant X6	XM_011526549.2:c....XM_011526549.2:c.194A>G	K [AAG]> R [AGG]	Coding Sequence Variant
cytochrome P450 2B6 isoform X6	XP_011524851.1:p....XP_011524851.1:p.Lys65Arg	K [Lys]> R [Arg]	Missense Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
The Exome Aggregation Consortium	American	Sub	19064	A=0.952	G=0.047
The Exome Aggregation Consortium	Asian	Sub	21772	A=0.878	G=0.122
The Exome Aggregation Consortium	Europe	Sub	67534	A=0.962	G=0.037
The Exome Aggregation Consortium	Global	Study-wide	109186	A=0.943	G=0.056
The Exome Aggregation Consortium	Other	Sub	816	A=0.940	G=0.060
The Genome Aggregation Database	African	Sub	8316	A=0.646	G=0.354
The Genome Aggregation Database	American	Sub	814	A=0.700	G=0.300
The Genome Aggregation Database	East Asian	Sub	1536	A=0.758	G=0.242
The Genome Aggregation Database	Europe	Sub	17814	A=0.768	G=0.231
The Genome Aggregation Database	Global	Study-wide	28766	A=0.729	G=0.270
The Genome Aggregation Database	Other	Sub	286	A=0.690	G=0.310
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.686	G=0.313

PMID	Title	Author	Journal
19239339	Associations between CYP2B6 polymorphisms and pharmacokinetics after a single dose of nevirapine or efavirenz in African americans.	Haas DW	J Infect Dis
21790905	CYP2B6 SNPs are associated with methadone dose required for effective treatment of opioid addiction.	Levran O	Addict Biol
20648701	PharmGKB summary: very important pharmacogene information for CYP2B6.	Thorn CF	Pharmacogenet Genomics
26779253	An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3'-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients.	Swart M	Front Genet
18695978	Functional pharmacogenetics/genomics of human cytochromes P450 involved in drug biotransformation.	Zanger UM	Anal Bioanal Chem
21712189	Analysis of pharmacogenetic traits in two distinct South African populations.	Ikediobi O	Hum Genomics
16595073	Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations.	Savas S	Hum Genomics
21694616	CYP2B6 polymorphisms influence the plasma concentration and clearance of the methadone S-enantiomer.	Wang SC	J Clin Psychopharmacol
20459744	Cyclophosphamide-metabolizing enzyme polymorphisms and survival outcomes after adjuvant chemotherapy for node-positive breast cancer: a retrospective cohort study.	Gor PP	Breast Cancer Res
24489693	Impact of ABCB1 and CYP2B6 genetic polymorphisms on methadone metabolism, dose and treatment response in patients with opioid addiction: a systematic review and meta-analysis.	Dennis BB	PLoS One
25428516	Effects of CYP2B6 genetic polymorphisms in patients receiving cyclophosphamide combination chemotherapy for breast cancer.	Haroun F	Cancer Chemother Pharmacol
27839851	Genetic and methylation variation in the CYP2B6 gene is related to circulating p,p'-dde levels in a population-based sample.	Lind L	Environ Int
21886015	Cytochrome P450 CYP2B6 genotypes and haplotypes in a Colombian population: identification of novel variant CYP2B6 alleles.	Restrepo JG	Pharmacogenet Genomics
26153084	CYP2B6 rs2279343 polymorphism is associated with smoking cessation success in bupropion therapy.	Tomaz PR	Eur J Clin Pharmacol
19812066	Influence of CYP2B6 polymorphisms on the persistence of plasma nevirapine concentrations following a single intra-partum dose for the prevention of mother to child transmission in HIV-infected Thai women.	Chantarangsu S	J Antimicrob Chemother
22552919	Bioinformatics and variability in drug response: a protein structural perspective.	Lahti JL	J R Soc Interface
25147095	CYP2B6 c.983T>C polymorphism is associated with nevirapine hypersensitivity in Malawian and Ugandan HIV populations.	Carr DF	J Antimicrob Chemother
26773420	Cyclophosphamide pharmacokinetics and pharmacogenetics in children with B-cell non-Hodgkin's lymphoma.	Veal GJ	Eur J Cancer
26602960	The prognostic values of CYP2B6 genetic polymorphisms and metastatic sites for advanced breast cancer patients treated with docetaxel and thiotepa.	Song Q	Sci Rep
17015050	Determinants of the rate of nicotine metabolism and effects on smoking behavior.	Johnstone E	Clin Pharmacol Ther
23133420	Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.	Suarez-Kurtz G	Front Pharmacol
20847277	Genotyping of DNA samples isolated from formalin-fixed paraffin-embedded tissues using preamplification.	Baak-Pablo R	J Mol Diagn
26991336	The impact of genetic polymorphisms on the pharmacokinetics of efavirenz in African children.	Bienczak A	Br J Clin Pharmacol
27010727	Genome-Wide Pharmacogenomic Study on Methadone Maintenance Treatment Identifies SNP rs17180299 and Multiple Haplotypes on CYP2B6, SPON1, and GSG1L Associated with Plasma Concentrations of Methadone R- and S-enantiomers in Heroin-Dependent Patients.	Yang HC	PLoS Genet
23775025	Common variants in genes coding for chemotherapy metabolizing enzymes, transporters, and targets: a case-control study of contralateral breast cancer risk in the WECARE Study.	Brooks JD	Cancer Causes Control
18728241	Pharmacokinetics of efavirenz when co-administered with rifampin in TB/HIV co-infected patients: pharmacogenetic effect of CYP2B6 variation.	Kwara A	J Clin Pharmacol
14515060	Bupropion and 4-OH-bupropion pharmacokinetics in relation to genetic polymorphisms in CYP2B6.	Kirchheiner J	Pharmacogenetics
24885815	Genetic variation in the CYP2B6 gene is related to circulating 2,2',4,4'-tetrabromodiphenyl ether (BDE-47) concentrations: an observational population-based study.	Penell J	Environ Health
19916993	A novel polymorphism in ABCB1 gene, CYP2B6*6 and sex predict single-dose efavirenz population pharmacokinetics in Ugandans.	Mukonzo JK	Br J Clin Pharmacol
23249875	Contribution of CYP2B6 alleles in explaining extreme (S)-methadone plasma levels: a CYP2B6 gene resequencing study.	Dobrinas M	Pharmacogenet Genomics
23104099	Multiple genetic variants predict steady-state nevirapine clearance in HIV-infected Cambodians.	Bertrand J	Pharmacogenet Genomics
19076156	Polymorphisms of drug-metabolizing enzymes (GST, CYP2B6 and CYP3A) affect the pharmacokinetics of thiotepa and tepa.	Ekhart C	Br J Clin Pharmacol
27388155	CYP2B6rs2279343 Is Associated with Improved Survival of Pediatric Rhabdomyosarcoma Treated with Cyclophosphamide.	Labib RM	PLoS One
19659438	CYP2B6 variants and plasma efavirenz concentrations during antiretroviral therapy in Port-au-Prince, Haiti.	Leger P	J Infect Dis
27110117	Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder.	Medhasi S	Neuropsychiatr Dis Treat

P-Value

SNP ID	p-value	Traits	Study
rs2279343	0.001	Drug response to nicotine	17015050
rs2279343	0.001	Drug response to nicotine	14515060
rs2279343	0.001	Drug response to nicotine	18695978

eQTL of rs2279343 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs2279343 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

rs2279343

Genomic Coordinates

Gene: CYP2B6, cytochrome P450 family 2 subfamily B member 6(plus strand)

Population Frequency

P-Value

eQTL of rs2279343 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs2279343 in Fetal Brain

Genomic View

Chromatin Interaction