dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs3745274
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
- chr19:41006936 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- G>A / G>C / G>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.294994 (78082/264690, TOPMED)T=0.255351 (35719/139882, ALFA)T=0.282308 (39483/139858, GnomAD) (+ 22 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- CYP2B6 : Missense Variant
- Publications
- 178 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 156322 | G=0.742423 | T=0.257577 |
| European | Sub | 124114 | G=0.759979 | T=0.240021 |
| African | Sub | 12046 | G=0.63598 | T=0.36402 |
| African Others | Sub | 426 | G=0.646 | T=0.354 |
| African American | Sub | 11620 | G=0.63563 | T=0.36437 |
| Asian | Sub | 348 | G=0.747 | T=0.253 |
| East Asian | Sub | 226 | G=0.770 | T=0.230 |
| Other Asian | Sub | 122 | G=0.705 | T=0.295 |
| Latin American 1 | Sub | 698 | G=0.670 | T=0.330 |
| Latin American 2 | Sub | 2540 | G=0.6909 | T=0.3091 |
| South Asian | Sub | 4836 | G=0.6115 | T=0.3885 |
| Other | Sub | 11740 | G=0.73526 | T=0.26474 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | G=0.705006 | T=0.294994 |
| Allele Frequency Aggregator | Total | Global | 139882 | G=0.744649 | T=0.255351 |
| Allele Frequency Aggregator | European | Sub | 113964 | G=0.759766 | T=0.240234 |
| Allele Frequency Aggregator | Other | Sub | 10288 | G=0.73639 | T=0.26361 |
| Allele Frequency Aggregator | African | Sub | 7208 | G=0.6328 | T=0.3672 |
| Allele Frequency Aggregator | South Asian | Sub | 4836 | G=0.6115 | T=0.3885 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 2540 | G=0.6909 | T=0.3091 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 698 | G=0.670 | T=0.330 |
| Allele Frequency Aggregator | Asian | Sub | 348 | G=0.747 | T=0.253 |
| gnomAD - Genomes | Global | Study-wide | 139858 | G=0.717692 | T=0.282308 |
| gnomAD - Genomes | European | Sub | 75838 | G=0.77209 | T=0.22791 |
| gnomAD - Genomes | African | Sub | 41788 | G=0.62989 | T=0.37011 |
| gnomAD - Genomes | American | Sub | 13632 | G=0.66212 | T=0.33788 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | G=0.7362 | T=0.2638 |
| gnomAD - Genomes | East Asian | Sub | 3132 | G=0.7992 | T=0.2008 |
| gnomAD - Genomes | Other | Sub | 2144 | G=0.7104 | T=0.2896 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.82532 | T=0.17468 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.82595 | T=0.17405 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | G=0.70960 | T=0.29040 |
| GO Exome Sequencing Project | European American | Sub | 8600 | G=0.7502 | T=0.2498 |
| GO Exome Sequencing Project | African American | Sub | 4406 | G=0.6303 | T=0.3697 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.6807 | T=0.3193 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.6254 | T=0.3746 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.7670 | T=0.2330 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.6215 | T=0.3785 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.7872 | T=0.2128 |
| 1000Genomes_30x | American | Sub | 980 | G=0.615 | T=0.385 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.6843 | T=0.3157 |
| 1000Genomes | African | Sub | 1322 | G=0.6256 | T=0.3744 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.7847 | T=0.2153 |
| 1000Genomes | Europe | Sub | 1006 | G=0.7644 | T=0.2356 |
| 1000Genomes | South Asian | Sub | 978 | G=0.619 | T=0.381 |
| 1000Genomes | American | Sub | 694 | G=0.627 | T=0.373 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.7574 | T=0.2426 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.7522 | T=0.2478 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | G=0.8399 | T=0.1601 |
| HapMap | Global | Study-wide | 1882 | G=0.6987 | T=0.3013 |
| HapMap | American | Sub | 770 | G=0.721 | T=0.279 |
| HapMap | African | Sub | 682 | G=0.626 | T=0.374 |
| HapMap | Asian | Sub | 254 | G=0.815 | T=0.185 |
| HapMap | Europe | Sub | 176 | G=0.716 | T=0.284 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | G=0.8412 | T=0.1588 |
| PharmGKB Aggregated | Global | Study-wide | 1256 | G=0.7492 | T=0.2508 |
| PharmGKB Aggregated | PA151704581 | Sub | 556 | G=0.755 | T=0.245 |
| PharmGKB Aggregated | PA149555319 | Sub | 356 | G=0.733 | T=0.267 |
| PharmGKB Aggregated | PA142773619 | Sub | 344 | G=0.756 | T=0.244 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.754 | T=0.246 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | G=0.823 | T=0.177 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | G=0.823 | T=0.177 |
| Chileans | Chilean | Study-wide | 626 | G=0.668 | T=0.332 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.772 | T=0.228 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.738 | T=0.262 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | G=0.786 | T=0.214 |
| SGDP_PRJ | Global | Study-wide | 300 | G=0.403 | T=0.597 |
| Qatari | Global | Study-wide | 216 | G=0.750 | T=0.250 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 210 | G=0.762 | T=0.238 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.78 | T=0.23 |
| Siberian | Global | Study-wide | 20 | G=0.45 | T=0.55 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 19 | NC_000019.10:g.41006936G>A |
| GRCh38.p14 chr 19 | NC_000019.10:g.41006936G>C |
| GRCh38.p14 chr 19 | NC_000019.10:g.41006936G>T |
| GRCh37.p13 chr 19 | NC_000019.9:g.41512841G>A |
| GRCh37.p13 chr 19 | NC_000019.9:g.41512841G>C |
| GRCh37.p13 chr 19 | NC_000019.9:g.41512841G>T |
| CYP2B6 RefSeqGene (LRG_1267) | NG_007929.1:g.20638G>A |
| CYP2B6 RefSeqGene (LRG_1267) | NG_007929.1:g.20638G>C |
| CYP2B6 RefSeqGene (LRG_1267) | NG_007929.1:g.20638G>T |
Gene: CYP2B6, cytochrome P450 family 2 subfamily B member 6 (plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CYP2B6 transcript | NM_000767.5:c.516G>A | Q [CAG] > Q [CAA] | Coding Sequence Variant |
| cytochrome P450 2B6 | NP_000758.1:p.Gln172= | Q (Gln) > Q (Gln) | Synonymous Variant |
| CYP2B6 transcript | NM_000767.5:c.516G>C | Q [CAG] > H [CAC] | Coding Sequence Variant |
| cytochrome P450 2B6 | NP_000758.1:p.Gln172His | Q (Gln) > H (His) | Missense Variant |
| CYP2B6 transcript | NM_000767.5:c.516G>T | Q [CAG] > H [CAT] | Coding Sequence Variant |
| cytochrome P450 2B6 | NP_000758.1:p.Gln172His | Q (Gln) > H (His) | Missense Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: T (allele ID: 38626 )
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000022520.28 | Efavirenz response | Drug-Response |
| RCV001787330.2 | efavirenz response - Metabolism/PK | Drug-Response |
| RCV001787331.2 | efavirenz response - Toxicity | Drug-Response |
| RCV001787332.2 | nevirapine response - Metabolism/PK | Drug-Response |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | G= | A | C | T |
|---|---|---|---|---|
| GRCh38.p14 chr 19 | NC_000019.10:g.41006936= | NC_000019.10:g.41006936G>A | NC_000019.10:g.41006936G>C | NC_000019.10:g.41006936G>T |
| GRCh37.p13 chr 19 | NC_000019.9:g.41512841= | NC_000019.9:g.41512841G>A | NC_000019.9:g.41512841G>C | NC_000019.9:g.41512841G>T |
| CYP2B6 RefSeqGene (LRG_1267) | NG_007929.1:g.20638= | NG_007929.1:g.20638G>A | NG_007929.1:g.20638G>C | NG_007929.1:g.20638G>T |
| CYP2B6 transcript | NM_000767.5:c.516= | NM_000767.5:c.516G>A | NM_000767.5:c.516G>C | NM_000767.5:c.516G>T |
| CYP2B6 transcript | NM_000767.4:c.516= | NM_000767.4:c.516G>A | NM_000767.4:c.516G>C | NM_000767.4:c.516G>T |
| cytochrome P450 2B6 | NP_000758.1:p.Gln172= | NP_000758.1:p.Gln172= | NP_000758.1:p.Gln172His | NP_000758.1:p.Gln172His |
| CYP2B6 transcript variant X3 | XM_005258571.1:c.364+2490= | XM_005258571.1:c.364+2490G>A | XM_005258571.1:c.364+2490G>C | XM_005258571.1:c.364+2490G>T |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
133 SubSNP, 29 Frequency, 4 ClinVar submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | YUSUKE | ss4931284 | Aug 28, 2002 (107) |
| 2 | WI_SSAHASNP | ss12465656 | Jul 11, 2003 (116) |
| 3 | RIKENSNPRC | ss12587420 | Aug 26, 2003 (117) |
| 4 | BCM_SSAHASNP | ss14716062 | Dec 05, 2003 (119) |
| 5 | SC_SNP | ss15722133 | Feb 27, 2004 (120) |
| 6 | CSHL-HAPMAP | ss17624566 | Feb 27, 2004 (120) |
| 7 | BIOVENTURES | ss32475213 | May 24, 2005 (125) |
| 8 | ABI | ss40971471 | Mar 13, 2006 (126) |
| 9 | EGP_SNPS | ss49853102 | Mar 13, 2006 (126) |
| 10 | PHARMGKB_PNAT | ss69368160 | May 17, 2007 (127) |
| 11 | ILLUMINA | ss75270166 | Dec 07, 2007 (129) |
| 12 | AFFY | ss76740923 | Dec 07, 2007 (142) |
| 13 | PHARMGKB_PNAT | ss84150008 | Dec 14, 2007 (130) |
| 14 | PHARMGKB_AB_DME | ss84158404 | Dec 14, 2007 (130) |
| 15 | CORNELL | ss86271805 | Mar 23, 2008 (129) |
| 16 | BCMHGSC_JDW | ss90975815 | Mar 24, 2008 (129) |
| 17 | SNP500CANCER | ss105439753 | Feb 04, 2009 (130) |
| 18 | KRIBB_YJKIM | ss119459008 | Dec 01, 2009 (131) |
| 19 | ENSEMBL | ss137679269 | Dec 01, 2009 (131) |
| 20 | ILLUMINA | ss154264760 | Dec 01, 2009 (131) |
| 21 | ILLUMINA | ss159441597 | Dec 01, 2009 (131) |
| 22 | SEATTLESEQ | ss159739857 | Dec 01, 2009 (131) |
| 23 | ILLUMINA | ss161063809 | Dec 01, 2009 (131) |
| 24 | ENSEMBL | ss161879331 | Dec 01, 2009 (131) |
| 25 | COMPLETE_GENOMICS | ss168210729 | Jul 04, 2010 (132) |
| 26 | ILLUMINA | ss173620437 | Jul 04, 2010 (132) |
| 27 | BUSHMAN | ss203756737 | Jul 04, 2010 (132) |
| 28 | 1000GENOMES | ss211965024 | Jul 14, 2010 (132) |
| 29 | 1000GENOMES | ss228143930 | Jul 14, 2010 (132) |
| 30 | 1000GENOMES | ss237680472 | Jul 15, 2010 (132) |
| 31 | 1000GENOMES | ss243885817 | Jul 15, 2010 (132) |
| 32 | ILLUMINA | ss244296315 | Jul 04, 2010 (132) |
| 33 | GMI | ss283213018 | May 04, 2012 (137) |
| 34 | PJP | ss292179016 | May 09, 2011 (134) |
| 35 | NHLBI-ESP | ss342498929 | May 09, 2011 (134) |
| 36 | ILLUMINA | ss479172622 | Sep 08, 2015 (146) |
| 37 | 1000GENOMES | ss491159651 | May 04, 2012 (137) |
| 38 | EXOME_CHIP | ss491547640 | May 04, 2012 (137) |
| 39 | CLINSEQ_SNP | ss491767712 | May 04, 2012 (137) |
| 40 | TISHKOFF | ss565988707 | Apr 25, 2013 (138) |
| 41 | SSMP | ss661853528 | Apr 25, 2013 (138) |
| 42 | ILLUMINA | ss780746046 | Sep 08, 2015 (146) |
| 43 | ILLUMINA | ss783423753 | Sep 08, 2015 (146) |
| 44 | ILLUMINA | ss832953168 | Jul 13, 2019 (153) |
| 45 | JMKIDD_LAB | ss974506257 | Aug 21, 2014 (142) |
| 46 | EVA-GONL | ss994309176 | Aug 21, 2014 (142) |
| 47 | JMKIDD_LAB | ss1067589689 | Aug 21, 2014 (142) |
| 48 | JMKIDD_LAB | ss1081910204 | Aug 21, 2014 (142) |
| 49 | 1000GENOMES | ss1363202057 | Aug 21, 2014 (142) |
| 50 | OMIM-CURATED-RECORDS | ss1505810993 | Dec 08, 2014 (142) |
| 51 | EVA_GENOME_DK | ss1578643450 | Apr 01, 2015 (144) |
| 52 | EVA_FINRISK | ss1584117702 | Apr 01, 2015 (144) |
| 53 | EVA_UK10K_ALSPAC | ss1637987042 | Apr 01, 2015 (144) |
| 54 | EVA_UK10K_TWINSUK | ss1680981075 | Apr 01, 2015 (144) |
| 55 | EVA_EXAC | ss1693617387 | Apr 01, 2015 (144) |
| 56 | EVA_EXAC | ss1693617388 | Apr 01, 2015 (144) |
| 57 | EVA_DECODE | ss1698362867 | Apr 01, 2015 (144) |
| 58 | EVA_MGP | ss1711514035 | Apr 01, 2015 (144) |
| 59 | EVA_SVP | ss1713663286 | Apr 01, 2015 (144) |
| 60 | ILLUMINA | ss1752285825 | Sep 08, 2015 (146) |
| 61 | HAMMER_LAB | ss1809311827 | Sep 08, 2015 (146) |
| 62 | ILLUMINA | ss1917937804 | Feb 12, 2016 (147) |
| 63 | WEILL_CORNELL_DGM | ss1937802807 | Feb 12, 2016 (147) |
| 64 | ILLUMINA | ss1946536017 | Feb 12, 2016 (147) |
| 65 | ILLUMINA | ss1959865247 | Feb 12, 2016 (147) |
| 66 | GENOMED | ss1968645337 | Jul 19, 2016 (147) |
| 67 | JJLAB | ss2029680721 | Sep 14, 2016 (149) |
| 68 | CLINVAR | ss2137495311 | Feb 23, 2017 (149) |
| 69 | USC_VALOUEV | ss2158221805 | Dec 20, 2016 (150) |
| 70 | SYSTEMSBIOZJU | ss2629337537 | Nov 08, 2017 (151) |
| 71 | GRF | ss2702832558 | Nov 08, 2017 (151) |
| 72 | ILLUMINA | ss2710883000 | Nov 08, 2017 (151) |
| 73 | GNOMAD | ss2744018766 | Nov 08, 2017 (151) |
| 74 | GNOMAD | ss2750195390 | Nov 08, 2017 (151) |
| 75 | GNOMAD | ss2962975799 | Nov 08, 2017 (151) |
| 76 | AFFY | ss2985142473 | Nov 08, 2017 (151) |
| 77 | AFFY | ss2985774117 | Nov 08, 2017 (151) |
| 78 | SWEGEN | ss3017488894 | Nov 08, 2017 (151) |
| 79 | ILLUMINA | ss3021907006 | Nov 08, 2017 (151) |
| 80 | ILLUMINA | ss3021907007 | Nov 08, 2017 (151) |
| 81 | CSIRBIOHTS | ss3029638651 | Nov 08, 2017 (151) |
| 82 | CSHL | ss3352307302 | Nov 08, 2017 (151) |
| 83 | ILLUMINA | ss3636423371 | Oct 12, 2018 (152) |
| 84 | ILLUMINA | ss3638227946 | Oct 12, 2018 (152) |
| 85 | ILLUMINA | ss3643200802 | Oct 12, 2018 (152) |
| 86 | OMUKHERJEE_ADBS | ss3646537111 | Oct 12, 2018 (152) |
| 87 | ILLUMINA | ss3652332971 | Oct 12, 2018 (152) |
| 88 | ILLUMINA | ss3652332972 | Oct 12, 2018 (152) |
| 89 | ILLUMINA | ss3653915081 | Oct 12, 2018 (152) |
| 90 | EVA_DECODE | ss3702786959 | Jul 13, 2019 (153) |
| 91 | ACPOP | ss3743047499 | Jul 13, 2019 (153) |
| 92 | ILLUMINA | ss3744464948 | Jul 13, 2019 (153) |
| 93 | EVA | ss3756075830 | Jul 13, 2019 (153) |
| 94 | ILLUMINA | ss3772533184 | Jul 13, 2019 (153) |
| 95 | KHV_HUMAN_GENOMES | ss3821323680 | Jul 13, 2019 (153) |
| 96 | EVA | ss3825291255 | Apr 27, 2020 (154) |
| 97 | EVA | ss3835466900 | Apr 27, 2020 (154) |
| 98 | SGDP_PRJ | ss3888237607 | Apr 27, 2020 (154) |
| 99 | KRGDB | ss3938354298 | Apr 27, 2020 (154) |
| 100 | KOGIC | ss3981371866 | Apr 27, 2020 (154) |
| 101 | FSA-LAB | ss3984154970 | Apr 26, 2021 (155) |
| 102 | EVA | ss3984742276 | Apr 26, 2021 (155) |
| 103 | EVA | ss3986798779 | Apr 26, 2021 (155) |
| 104 | TOPMED | ss5075144072 | Apr 26, 2021 (155) |
| 105 | TOMMO_GENOMICS | ss5227805397 | Apr 26, 2021 (155) |
| 106 | EVA | ss5236961594 | Apr 26, 2021 (155) |
| 107 | EVA | ss5237247521 | Apr 26, 2021 (155) |
| 108 | EVA | ss5237597300 | Apr 26, 2021 (155) |
| 109 | EVA | ss5237597301 | Apr 26, 2021 (155) |
| 110 | EVA | ss5237672700 | Oct 16, 2022 (156) |
| 111 | 1000G_HIGH_COVERAGE | ss5307282219 | Oct 16, 2022 (156) |
| 112 | TRAN_CS_UWATERLOO | ss5314453326 | Oct 16, 2022 (156) |
| 113 | EVA | ss5434901562 | Oct 16, 2022 (156) |
| 114 | HUGCELL_USP | ss5499801830 | Oct 16, 2022 (156) |
| 115 | EVA | ss5512105560 | Oct 16, 2022 (156) |
| 116 | EVA | ss5512473959 | Oct 16, 2022 (156) |
| 117 | 1000G_HIGH_COVERAGE | ss5613028267 | Oct 16, 2022 (156) |
| 118 | EVA | ss5623977989 | Oct 16, 2022 (156) |
| 119 | EVA | ss5624090656 | Oct 16, 2022 (156) |
| 120 | SANFORD_IMAGENETICS | ss5624429074 | Oct 16, 2022 (156) |
| 121 | SANFORD_IMAGENETICS | ss5662411403 | Oct 16, 2022 (156) |
| 122 | TOMMO_GENOMICS | ss5786453661 | Oct 16, 2022 (156) |
| 123 | EVA | ss5799404790 | Oct 16, 2022 (156) |
| 124 | EVA | ss5800223157 | Oct 16, 2022 (156) |
| 125 | YY_MCH | ss5817610522 | Oct 16, 2022 (156) |
| 126 | EVA | ss5840563341 | Oct 16, 2022 (156) |
| 127 | EVA | ss5847497260 | Oct 16, 2022 (156) |
| 128 | EVA | ss5847844575 | Oct 16, 2022 (156) |
| 129 | EVA | ss5848493469 | Oct 16, 2022 (156) |
| 130 | EVA | ss5852294110 | Oct 16, 2022 (156) |
| 131 | EVA | ss5928140476 | Oct 16, 2022 (156) |
| 132 | EVA | ss5953824964 | Oct 16, 2022 (156) |
| 133 | EVA | ss5981312661 | Oct 16, 2022 (156) |
| 134 | 1000Genomes | NC_000019.9 - 41512841 | Oct 12, 2018 (152) |
| 135 | 1000Genomes_30x | NC_000019.10 - 41006936 | Oct 16, 2022 (156) |
| 136 | The Avon Longitudinal Study of Parents and Children | NC_000019.9 - 41512841 | Oct 12, 2018 (152) |
| 137 | Chileans | NC_000019.9 - 41512841 | Apr 27, 2020 (154) |
| 138 | ExAC Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 139 | ExAC Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 140 | FINRISK | NC_000019.9 - 41512841 | Apr 27, 2020 (154) |
| 141 | The Danish reference pan genome | NC_000019.9 - 41512841 | Apr 27, 2020 (154) |
| 142 | gnomAD - Genomes | NC_000019.10 - 41006936 | Apr 26, 2021 (155) |
| 143 | gnomAD - Exomes Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 144 | gnomAD - Exomes Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 145 | GO Exome Sequencing Project | NC_000019.9 - 41512841 | Oct 12, 2018 (152) |
| 146 | Genome of the Netherlands Release 5 | NC_000019.9 - 41512841 | Apr 27, 2020 (154) |
| 147 | HapMap | NC_000019.10 - 41006936 | Apr 27, 2020 (154) |
| 148 | KOREAN population from KRGDB | NC_000019.9 - 41512841 | Apr 27, 2020 (154) |
| 149 | Korean Genome Project | NC_000019.10 - 41006936 | Apr 27, 2020 (154) |
| 150 | Medical Genome Project healthy controls from Spanish population | NC_000019.9 - 41512841 | Apr 27, 2020 (154) |
| 151 | Northern Sweden | NC_000019.9 - 41512841 | Jul 13, 2019 (153) |
| 152 | CNV burdens in cranial meningiomas | NC_000019.9 - 41512841 | Apr 26, 2021 (155) |
| 153 | PharmGKB Aggregated | NC_000019.10 - 41006936 | Apr 27, 2020 (154) |
| 154 | Qatari | NC_000019.9 - 41512841 | Apr 27, 2020 (154) |
| 155 | SGDP_PRJ | NC_000019.9 - 41512841 | Apr 27, 2020 (154) |
| 156 | Siberian | NC_000019.9 - 41512841 | Apr 27, 2020 (154) |
| 157 | 8.3KJPN | NC_000019.9 - 41512841 | Apr 26, 2021 (155) |
| 158 | 14KJPN | NC_000019.10 - 41006936 | Oct 16, 2022 (156) |
| 159 | TopMed | NC_000019.10 - 41006936 | Apr 26, 2021 (155) |
| 160 | UK 10K study - Twins | NC_000019.9 - 41512841 | Oct 12, 2018 (152) |
| 161 | A Vietnamese Genetic Variation Database | NC_000019.9 - 41512841 | Jul 13, 2019 (153) |
| 162 | ALFA | NC_000019.10 - 41006936 | Apr 26, 2021 (155) |
| 163 | ClinVar | RCV000022520.28 | Oct 16, 2022 (156) |
| 164 | ClinVar | RCV001787330.2 | Oct 16, 2022 (156) |
| 165 | ClinVar | RCV001787331.2 | Oct 16, 2022 (156) |
| 166 | ClinVar | RCV001787332.2 | Oct 16, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs56308434 | Aug 21, 2014 (142) |
| rs57685583 | May 24, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss1693617388, ss2744018766, ss5512473959 | NC_000019.9:41512840:G:A | NC_000019.10:41006935:G:A | (self) |
| ss2137495311 | NC_000019.10:41006935:G:A | NC_000019.10:41006935:G:A | (self) |
| ss5512473959 | NC_000019.9:41512840:G:C | NC_000019.10:41006935:G:C | |
| ss76740923, ss90975815, ss168210729, ss203756737, ss211965024, ss283213018, ss292179016, ss491767712, ss1698362867, ss1713663286, ss3643200802 | NC_000019.8:46204680:G:T | NC_000019.10:41006935:G:T | (self) |
| 76610707, 42431091, 205571, 114163, 4825779, 1748216, 18902048, 45531692, 629795, 16332364, 291832, 19844729, 40254587, 10738159, 85774704, 42431091, 9371890, ss228143930, ss237680472, ss243885817, ss342498929, ss479172622, ss491159651, ss491547640, ss565988707, ss661853528, ss780746046, ss783423753, ss832953168, ss974506257, ss994309176, ss1067589689, ss1081910204, ss1363202057, ss1578643450, ss1584117702, ss1637987042, ss1680981075, ss1693617387, ss1711514035, ss1752285825, ss1809311827, ss1917937804, ss1937802807, ss1946536017, ss1959865247, ss1968645337, ss2029680721, ss2158221805, ss2629337537, ss2702832558, ss2710883000, ss2744018766, ss2750195390, ss2962975799, ss2985142473, ss2985774117, ss3017488894, ss3021907006, ss3021907007, ss3029638651, ss3352307302, ss3636423371, ss3638227946, ss3646537111, ss3652332971, ss3652332972, ss3653915081, ss3743047499, ss3744464948, ss3756075830, ss3772533184, ss3825291255, ss3835466900, ss3888237607, ss3938354298, ss3984154970, ss3984742276, ss3986798779, ss5227805397, ss5237597300, ss5237597301, ss5434901562, ss5512105560, ss5512473959, ss5623977989, ss5624090656, ss5624429074, ss5662411403, ss5799404790, ss5800223157, ss5840563341, ss5847497260, ss5847844575, ss5848493469, ss5953824964, ss5981312661 | NC_000019.9:41512840:G:T | NC_000019.10:41006935:G:T | (self) |
| RCV000022520.28, RCV001787330.2, RCV001787331.2, RCV001787332.2, 100554202, 540322672, 1697438, 37749867, 5757, 120290765, 290689736, 9721389739, ss1505810993, ss3702786959, ss3821323680, ss3981371866, ss5075144072, ss5236961594, ss5237247521, ss5237672700, ss5307282219, ss5314453326, ss5499801830, ss5613028267, ss5786453661, ss5817610522, ss5852294110, ss5928140476 | NC_000019.10:41006935:G:T | NC_000019.10:41006935:G:T | (self) |
| ss12465656, ss14716062, ss15722133, ss17624566 | NT_011109.15:13781058:G:T | NC_000019.10:41006935:G:T | (self) |
| ss4931284, ss12587420, ss32475213, ss40971471, ss49853102, ss69368160, ss75270166, ss84150008, ss84158404, ss86271805, ss105439753, ss119459008, ss137679269, ss154264760, ss159441597, ss159739857, ss161063809, ss161879331, ss173620437, ss244296315 | NT_011109.16:13781058:G:T | NC_000019.10:41006935:G:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
178 citations for rs3745274
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 15622315 | Pharmacogenetics of efavirenz and central nervous system side effects: an Adult AIDS Clinical Trials Group study. | Haas DW et al. | 2004 | AIDS (London, England) |
| 15864119 | Influence of CYP2B6 polymorphism on plasma and intracellular concentrations and toxicity of efavirenz and nevirapine in HIV-infected patients. | Rotger M et al. | 2005 | Pharmacogenetics and genomics |
| 16267764 | Pharmacogenetics of long-term responses to antiretroviral regimens containing Efavirenz and/or Nelfinavir: an Adult Aids Clinical Trials Group Study. | Haas DW et al. | 2005 | The Journal of infectious diseases |
| 18281305 | Impact of CYP2B6 983T>C polymorphism on non-nucleoside reverse transcriptase inhibitor plasma concentrations in HIV-infected patients. | Wyen C et al. | 2008 | The Journal of antimicrobial chemotherapy |
| 18728241 | Pharmacokinetics of efavirenz when co-administered with rifampin in TB/HIV co-infected patients: pharmacogenetic effect of CYP2B6 variation. | Kwara A et al. | 2008 | Journal of clinical pharmacology |
| 18784455 | The pharmacokinetics and pharmacogenomics of efavirenz and lopinavir/ritonavir in HIV-infected persons requiring hemodialysis. | Gupta SK et al. | 2008 | AIDS (London, England) |
| 19076156 | Polymorphisms of drug-metabolizing enzymes (GST, CYP2B6 and CYP3A) affect the pharmacokinetics of thiotepa and tepa. | Ekhart C et al. | 2009 | British journal of clinical pharmacology |
| 19154420 | The impact of cytokines on the expression of drug transporters, cytochrome P450 enzymes and chemokine receptors in human PBMC. | Liptrott NJ et al. | 2009 | British journal of pharmacology |
| 19228205 | Cytochrome P450 2B6 516G-->T is associated with plasma concentrations of nevirapine at both 200 mg twice daily and 400 mg once daily in an ethnically diverse population. | Mahungu T et al. | 2009 | HIV medicine |
| 19239339 | Associations between CYP2B6 polymorphisms and pharmacokinetics after a single dose of nevirapine or efavirenz in African americans. | Haas DW et al. | 2009 | The Journal of infectious diseases |
| 19371316 | CYP2B6 (c.516G-->T) and CYP2A6 (*9B and/or *17) polymorphisms are independent predictors of efavirenz plasma concentrations in HIV-infected patients. | Kwara A et al. | 2009 | British journal of clinical pharmacology |
| 19659438 | CYP2B6 variants and plasma efavirenz concentrations during antiretroviral therapy in Port-au-Prince, Haiti. | Leger P et al. | 2009 | The Journal of infectious diseases |
| 19779319 | CYP2B6, CYP2A6 and UGT2B7 genetic polymorphisms are predictors of efavirenz mid-dose concentration in HIV-infected patients. | Kwara A et al. | 2009 | AIDS (London, England) |
| 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 et al. | 2009 | The Journal of antimicrobial chemotherapy |
| 19916993 | A novel polymorphism in ABCB1 gene, CYP2B6*6 and sex predict single-dose efavirenz population pharmacokinetics in Ugandans. | Mukonzo JK et al. | 2009 | British journal of clinical pharmacology |
| 20338069 | Effects of CYP2B6 G516T polymorphisms on plasma efavirenz and nevirapine levels when co-administered with rifampicin in HIV/TB co-infected Thai adults. | Uttayamakul S et al. | 2010 | AIDS research and therapy |
| 20441246 | Long-term efficacy and safety of efavirenz dose reduction to 200 mg once daily in a Caucasian patient with HIV. | Cabrera Figueroa S et al. | 2010 | Clinical drug investigation |
| 20459744 | Cyclophosphamide-metabolizing enzyme polymorphisms and survival outcomes after adjuvant chemotherapy for node-positive breast cancer: a retrospective cohort study. | Gor PP et al. | 2010 | Breast cancer research |
| 20625352 | CYP2B6 polymorphism and nonnucleoside reverse transcriptase inhibitor plasma concentrations in Chinese HIV-infected patients. | Chen J et al. | 2010 | Therapeutic drug monitoring |
| 20639527 | Haplotype structure of CYP2B6 and association with plasma efavirenz concentrations in a Chilean HIV cohort. | Carr DF et al. | 2010 | The Journal of antimicrobial chemotherapy |
| 20648701 | PharmGKB summary: very important pharmacogene information for CYP2B6. | Thorn CF et al. | 2010 | Pharmacogenetics and genomics |
| 20696882 | Population pharmacokinetic-pharmacogenetic study of nevirapine in HIV-infected Cambodian patients. | Chou M et al. | 2010 | Antimicrobial agents and chemotherapy |
| 20723261 | Presence of the CYP2B6 516G> T polymorphism, increased plasma Efavirenz concentrations and early neuropsychiatric side effects in South African HIV-infected patients. | Gounden V et al. | 2010 | AIDS research and therapy |
| 20860463 | Influence of host genetic factors on efavirenz plasma and intracellular pharmacokinetics in HIV-1-infected patients. | Elens L et al. | 2010 | Pharmacogenomics |
| 20952418 | Tribal ethnicity and CYP2B6 genetics in Ugandan and Zimbabwean populations in the UK: implications for efavirenz dosing in HIV infection. | Jamshidi Y et al. | 2010 | The Journal of antimicrobial chemotherapy |
| 21169260 | Gene polymorphisms in cyclophosphamide metabolism pathway,treatment-related toxicity, and disease-free survival in SWOG 8897 clinical trial for breast cancer. | Yao S et al. | 2010 | Clinical cancer research |
| 21172166 | Pharmacogenetics of antidepressant response. | Porcelli S et al. | 2011 | Journal of psychiatry & neuroscience |
| 21288825 | Association of pharmacogenetic markers with premature discontinuation of first-line anti-HIV therapy: an observational cohort study. | Lubomirov R et al. | 2011 | The Journal of infectious diseases |
| 21289622 | Pharmacogenomics of the RNA world: structural RNA polymorphisms in drug therapy. | Sadee W et al. | 2011 | Clinical pharmacology and therapeutics |
| 21393201 | Factors influencing plasma nevirapine levels: a study in HIV-infected children on generic antiretroviral treatment in India. | Swaminathan S et al. | 2011 | The Journal of antimicrobial chemotherapy |
| 21441248 | Integration of population pharmacokinetics and pharmacogenetics: an aid to optimal nevirapine dose selection in HIV-infected individuals. | Schipani A et al. | 2011 | The Journal of antimicrobial chemotherapy |
| 21505298 | Toxicogenomics of nevirapine-associated cutaneous and hepatic adverse events among populations of African, Asian, and European descent. | Yuan J et al. | 2011 | AIDS (London, England) |
| 21518840 | Modest but variable effect of rifampin on steady-state plasma pharmacokinetics of efavirenz in healthy African-American and Caucasian volunteers. | Kwara A et al. | 2011 | Antimicrobial agents and chemotherapy |
| 21673041 | Chemokine (C-C motif) receptor 5 -2459 genotype in patients receiving highly active antiretroviral therapy: race-specific influence on virologic success. | Mehlotra RK et al. | 2011 | The Journal of infectious diseases |
| 21694616 | CYP2B6 polymorphisms influence the plasma concentration and clearance of the methadone S-enantiomer. | Wang SC et al. | 2011 | Journal of clinical psychopharmacology |
| 21712189 | Analysis of pharmacogenetic traits in two distinct South African populations. | Ikediobi O et al. | 2011 | Human genomics |
| 21715435 | Cytochrome P450 2B6 (CYP2B6) and constitutive androstane receptor (CAR) polymorphisms are associated with early discontinuation of efavirenz-containing regimens. | Wyen C et al. | 2011 | The Journal of antimicrobial chemotherapy |
| 21790905 | CYP2B6 SNPs are associated with methadone dose required for effective treatment of opioid addiction. | Levran O et al. | 2013 | Addiction biology |
| 21824325 | Pharmacogenetics of toxicity, plasma trough concentration and treatment outcome with nevirapine-containing regimen in anti-retroviral-naïve HIV-infected adults: an exploratory study of the TRIANON ANRS 081 trial. | Gozalo C et al. | 2011 | Basic & clinical pharmacology & toxicology |
| 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. | Galván CA et al. | 2012 | Genetic testing and molecular biomarkers |
| 21860339 | Integration of absorption, distribution, metabolism, and elimination genotyping data into a population pharmacokinetic analysis of nevirapine. | Lehr T et al. | 2011 | Pharmacogenetics and genomics |
| 21862974 | High plasma efavirenz level and CYP2B6*6 are associated with efavirenz-based HAART-induced liver injury in the treatment of naïve HIV patients from Ethiopia: a prospective cohort study. | Yimer G et al. | 2012 | The pharmacogenomics journal |
| 21886015 | Cytochrome P450 CYP2B6 genotypes and haplotypes in a Colombian population: identification of novel variant CYP2B6 alleles. | Restrepo JG et al. | 2011 | Pharmacogenetics and genomics |
| 21902500 | Impact of genetic polymorphisms in ABCB1, CYP2B6, OPRM1, ANKK1 and DRD2 genes on methadone therapy in Han Chinese patients. | Hung CC et al. | 2011 | Pharmacogenomics |
| 22057858 | Influence of CYP2B6 516G>T polymorphism and interoccasion variability (IOV) on the population pharmacokinetics of efavirenz in HIV-infected South African children. | Viljoen M et al. | 2012 | European journal of clinical pharmacology |
| 22111602 | Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians. | Brown KC et al. | 2012 | Pharmacogenomics |
| 22162992 | Pharmacogenetic & pharmacokinetic biomarker for efavirenz based ARV and rifampicin based anti-TB drug induced liver injury in TB-HIV infected patients. | Yimer G et al. | 2011 | PloS one |
| 22235271 | Determinants of sustained viral suppression in HIV-infected patients with self-reported poor adherence to antiretroviral therapy. | Glass TR et al. | 2012 | PloS one |
| 22354160 | Associations between ABCB1, CYP2A6, CYP2B6, CYP2D6, and CYP3A5 alleles in relation to efavirenz and nevirapine pharmacokinetics in HIV-infected individuals. | Heil SG et al. | 2012 | Therapeutic drug monitoring |
| 22361517 | Genetic determinants of the ankle-brachial index: a meta-analysis of a cardiovascular candidate gene 50K SNP panel in the candidate gene association resource (CARe) consortium. | Wassel CL et al. | 2012 | Atherosclerosis |
| 22471906 | Pharmacogenetic markers of CYP2B6 associated with efavirenz plasma concentrations in HIV-1 infected Thai adults. | Sukasem C et al. | 2012 | British journal of clinical pharmacology |
| 22552919 | Bioinformatics and variability in drug response: a protein structural perspective. | Lahti JL et al. | 2012 | Journal of the Royal Society, Interface |
| 22680342 | Influence of CYP2B6 and ABCB1 SNPs on nevirapine plasma concentrations in Burundese HIV-positive patients using dried sample spot devices. | Calcagno A et al. | 2012 | British journal of clinical pharmacology |
| 22808112 | Liver enzyme abnormalities and associated risk factors in HIV patients on efavirenz-based HAART with or without tuberculosis co-infection in Tanzania. | Mugusi S et al. | 2012 | PloS one |
| 22927450 | A single-nucleotide polymorphism in CYP2B6 leads to >3-fold increases in efavirenz concentrations in plasma and hair among HIV-infected women. | Gandhi M et al. | 2012 | The Journal of infectious diseases |
| 22951632 | Underlying genetic structure impacts the association between CYP2B6 polymorphisms and response to efavirenz and nevirapine. | Frasco MA et al. | 2012 | AIDS (London, England) |
| 22992668 | Pharmacogenomics knowledge for personalized medicine. | Whirl-Carrillo M et al. | 2012 | Clinical pharmacology and therapeutics |
| 23080225 | Genome-wide association study of plasma efavirenz pharmacokinetics in AIDS Clinical Trials Group protocols implicates several CYP2B6 variants. | Holzinger ER et al. | 2012 | Pharmacogenetics and genomics |
| 23104099 | Multiple genetic variants predict steady-state nevirapine clearance in HIV-infected Cambodians. | Bertrand J et al. | 2012 | Pharmacogenetics and genomics |
| 23133420 | Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin. | Suarez-Kurtz G et al. | 2012 | Frontiers in pharmacology |
| 23172109 | Correlates of efavirenz exposure in Chilean patients affected with human immunodeficiency virus reveals a novel association with a polymorphism in the constitutive androstane receptor. | Cortes CP et al. | 2013 | Therapeutic drug monitoring |
| 23249875 | Contribution of CYP2B6 alleles in explaining extreme (S)-methadone plasma levels: a CYP2B6 gene resequencing study. | Dobrinas M et al. | 2013 | Pharmacogenetics and genomics |
| 23254426 | Impact of pharmacogenetic markers of CYP2B6, clinical factors, and drug-drug interaction on efavirenz concentrations in HIV/tuberculosis-coinfected patients. | Manosuthi W et al. | 2013 | Antimicrobial agents and chemotherapy |
| 23372834 | ABCB1 variation and treatment response in AIDS patients: initial results of the Henan cohort. | Zhu P et al. | 2013 | PloS one |
| 23399569 | High plasma efavirenz concentration and CYP2B6 polymorphisms in Thai HIV-1 infections. | Sukasem C et al. | 2013 | Drug metabolism and pharmacokinetics |
| 23524664 | Influence of the CYP2B6 polymorphism on the pharmacokinetics of mitotane. | D'Avolio A et al. | 2013 | Pharmacogenetics and genomics |
| 23687222 | Clinical and genetic determinants of plasma nevirapine exposure following an intrapartum dose to prevent mother-to-child HIV transmission. | Vardhanabhuti S et al. | 2013 | The Journal of infectious diseases |
| 23734829 | Influence of efavirenz pharmacokinetics and pharmacogenetics on neuropsychological disorders in Ugandan HIV-positive patients with or without tuberculosis: a prospective cohort study. | Mukonzo JK et al. | 2013 | BMC infectious diseases |
| 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 et al. | 2013 | Cancer causes & control |
| 23859571 | Impact of pharmacogenetics on CNS side effects related to efavirenz. | Sánchez Martín A et al. | 2013 | Pharmacogenomics |
| 23861838 | Importance of ethnicity, CYP2B6 and ABCB1 genotype for efavirenz pharmacokinetics and treatment outcomes: a parallel-group prospective cohort study in two sub-Saharan Africa populations. | Ngaimisi E et al. | 2013 | PloS one |
| 23970651 | Sleep quality in efavirenz-treated Chinese HIV patients - comparing between GT and GG genotype of CYP2B6-516 G/T polymorphisms. | Lee SS et al. | 2014 | International journal of STD & AIDS |
| 23982262 | Measuring the overall genetic component of nevirapine pharmacokinetics and the role of selected polymorphisms: towards addressing the missing heritability in pharmacogenetic phenotypes? | Micheli JE et al. | 2013 | Pharmacogenetics and genomics |
| 23996099 | ABCB1 and ABCC1 variants associated with virological failure of first-line protease inhibitors antiretroviral regimens in Northeast Brazil patients. | Coelho AV et al. | 2013 | Journal of clinical pharmacology |
| 24080498 | Pharmacogenetic associations with plasma efavirenz concentrations and clinical correlates in a retrospective cohort of Ghanaian HIV-infected patients. | Sarfo FS et al. | 2014 | The Journal of antimicrobial chemotherapy |
| 24145522 | Pharmacometric characterization of efavirenz developmental pharmacokinetics and pharmacogenetics in HIV-infected children. | Salem AH et al. | 2014 | Antimicrobial agents and chemotherapy |
| 24217698 | Population pharmacokinetic and pharmacogenetic analysis of nevirapine in hypersensitive and tolerant HIV-infected patients from Malawi. | Dickinson L et al. | 2014 | Antimicrobial agents and chemotherapy |
| 24316028 | The role of genetic polymorphisms in cytochrome P450 and effects of tuberculosis co-treatment on the predictive value of CYP2B6 SNPs and on efavirenz plasma levels in adult HIV patients. | Bienvenu E et al. | 2014 | Antiviral research |
| 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 et al. | 2014 | PloS one |
| 24517233 | Genetic variants of drug metabolizing enzymes and drug transporter (ABCB1) as possible biomarkers for adverse drug reactions in an HIV/AIDS cohort in Zimbabwe. | Dhoro M et al. | 2013 | Current HIV research |
| 24551111 | Therapeutic drug monitoring and pharmacogenetic study of HIV-infected ethnic Chinese receiving efavirenz-containing antiretroviral therapy with or without rifampicin-based anti-tuberculous therapy. | Lee KY et al. | 2014 | PloS one |
| 24831655 | CYP2B6 516G>T (rs3745274) and smoking status are associated with efavirenz plasma concentration in a Serbian cohort of HIV patients. | Olagunju A et al. | 2014 | Therapeutic drug monitoring |
| 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 et al. | 2014 | Environmental health |
| 24909419 | A 30-years review on pharmacokinetics of antibiotics: is the right time for pharmacogenetics? | Baietto L et al. | 2014 | Current drug metabolism |
| 24956253 | Dose reduction of efavirenz: an observational study describing cost-effectiveness, pharmacokinetics and pharmacogenetics. | Martín AS et al. | 2014 | Pharmacogenomics |
| 24988984 | Direct sequencing and comprehensive screening of genetic polymorphisms on CYP2 family genes (CYP2A6, CYP2B6, CYP2C8, and CYP2E1) in five ethnic populations. | Kim JH et al. | 2015 | Archives of pharmacal research |
| 24996618 | Host genetic factors predisposing to HIV-associated neurocognitive disorder. | Kallianpur AR et al. | 2014 | Current HIV/AIDS reports |
| 25147095 | CYP2B6 c.983T>C polymorphism is associated with nevirapine hypersensitivity in Malawian and Ugandan HIV populations. | Carr DF et al. | 2014 | The Journal of antimicrobial chemotherapy |
| 25266489 | Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China. | Zhang J et al. | 2014 | BMC genetics |
| 25271170 | Association of the CYP2B6 gene with anti-tuberculosis drug-induced hepatotoxicity in a Brazilian Amazon population. | Fernandes DC et al. | 2015 | International journal of infectious diseases |
| 25303294 | CYP2B6 genotype, but not rifampicin-based anti-TB cotreatments, explains variability in long-term efavirenz plasma exposure. | Mukonzo JK et al. | 2014 | Pharmacogenomics |
| 25428516 | Effects of CYP2B6 genetic polymorphisms in patients receiving cyclophosphamide combination chemotherapy for breast cancer. | Haroun F et al. | 2015 | Cancer chemotherapy and pharmacology |
| 25456329 | Ethnic and genetic factors in methadone pharmacokinetics: a population pharmacokinetic study. | Bart G et al. | 2014 | Drug and alcohol dependence |
| 25556837 | Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity. | Mouly S et al. | 2015 | British journal of clinical pharmacology |
| 25611810 | Pharmacogenetics of plasma efavirenz exposure in HIV-infected adults and children in South Africa. | Sinxadi PZ et al. | 2015 | British journal of clinical pharmacology |
| 25669165 | Pharmacogenetics of pregnancy-induced changes in efavirenz pharmacokinetics. | Olagunju A et al. | 2015 | Clinical pharmacology and therapeutics |
| 25719551 | The role of genotypes that modify the toxicity of chemical mutagens in the risk for myeloproliferative neoplasms. | Gross-Davis CA et al. | 2015 | International journal of environmental research and public health |
| 26091847 | Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China. | Wang L et al. | 2015 | BMC genetics |
| 26141406 | Impact of the Cytochrome P450 2B6 (CYP2B6) Gene Polymorphism c.516G>T (rs3745274) on Propofol Dose Variability. | Mourão AL et al. | 2016 | European journal of drug metabolism and pharmacokinetics |
| 26153084 | CYP2B6 rs2279343 polymorphism is associated with smoking cessation success in bupropion therapy. | Tomaz PR et al. | 2015 | European journal of clinical pharmacology |
| 26196596 | Genotype-guided dose adjustment for the use of efavirenz in HIV treatment. | Lam TN et al. | 2015 | The Journal of infection |
| 26247717 | CYP2B6 poor metaboliser alleles involved in efavirenz and nevirapine metabolism: CYP2B6*9 and CYP2B6*18 distribution in HIV-exposed subjects from Dschang, Western Cameroon. | Paganotti GM et al. | 2015 | Infection, genetics and evolution |
| 26348712 | Effects of CYP2B6 and CYP1A2 Genetic Variation on Nevirapine Plasma Concentration and Pharmacodynamics as Measured by CD4 Cell Count in Zimbabwean HIV-Infected Patients. | Mhandire D et al. | 2015 | Omics |
| 26553801 | WITHDRAWN--a resource for withdrawn and discontinued drugs. | Siramshetty VB et al. | 2016 | Nucleic acids research |
| 26715213 | Comprehensive Pharmacokinetic, Pharmacodynamic and Pharmacogenetic Evaluation of Once-Daily Efavirenz 400 and 600 mg in Treatment-Naïve HIV-Infected Patients at 96 Weeks: Results of the ENCORE1 Study. | Dickinson L et al. | 2016 | Clinical pharmacokinetics |
| 26765343 | Privacy-preserving genomic testing in the clinic: a model using HIV treatment. | McLaren PJ et al. | 2016 | Genetics in medicine |
| 26765416 | Plasma Efavirenz Concentrations Are Associated With Lipid and Glucose Concentrations. | Sinxadi PZ et al. | 2016 | Medicine |
| 26773420 | Cyclophosphamide pharmacokinetics and pharmacogenetics in children with B-cell non-Hodgkin's lymphoma. | Veal GJ et al. | 2016 | European journal of cancer (Oxford, England |
| 26774523 | Efavirenz pharmacogenetics in a cohort of Italian patients. | Cusato J et al. | 2016 | International journal of antimicrobial agents |
| 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 et al. | 2015 | Frontiers in genetics |
| 26785747 | Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan. | Iskakova AN et al. | 2016 | BMC genetics |
| 26858644 | Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling. | Chua EW et al. | 2016 | Frontiers in pharmacology |
| 26991336 | The impact of genetic polymorphisms on the pharmacokinetics of efavirenz in African children. | Bienczak A et al. | 2016 | British journal of clinical pharmacology |
| 27002825 | Glutathione S Transferases Polymorphisms Are Independent Prognostic Factors in Lupus Nephritis Treated with Cyclophosphamide. | Audemard-Verger A et al. | 2016 | PloS one |
| 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 et al. | 2016 | PLoS genetics |
| 27015811 | Associations of air pollution exposure with blood pressure and heart rate variability are modified by oxidative stress genes: A repeated-measures panel among elderly urban residents. | Kim KN et al. | 2016 | Environmental health |
| 27110117 | Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder. | Medhasi S et al. | 2016 | Neuropsychiatric disease and treatment |
| 27233804 | Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China. | Jin T et al. | 2016 | BMC genetics |
| 27299708 | Dose Optimization of Efavirenz Based on Individual CYP2B6 Polymorphisms in Chinese Patients Positive for HIV. | Hui KH et al. | 2016 | CPT |
| 27388155 | CYP2B6rs2279343 Is Associated with Improved Survival of Pediatric Rhabdomyosarcoma Treated with Cyclophosphamide. | Labib RM et al. | 2016 | PloS one |
| 27648838 | Single Nucleotide Polymorphisms in Cellular Drug Transporters Are Associated with Intolerance to Antiretroviral Therapy in Brazilian HIV-1 Positive Individuals. | Arruda MB et al. | 2016 | PloS one |
| 27655857 | Impact of efavirenz pharmacokinetics and pharmacogenomics on neuropsychological performance in older HIV-infected patients. | Sandkovsky U et al. | 2017 | The Journal of antimicrobial chemotherapy |
| 27665700 | Gene-gene interactions between DRD3, MRP4 and CYP2B6 polymorphisms and its influence on the pharmacokinetic parameters of efavirenz in HIV infected patients. | Sánchez-Martín A et al. | 2016 | Drug metabolism and pharmacokinetics |
| 27707991 | Effect of diurnal variation, CYP2B6 genotype and age on the pharmacokinetics of nevirapine in African children. | Bienczak A et al. | 2017 | The Journal of antimicrobial chemotherapy |
| 27839851 | Genetic and methylation variation in the CYP2B6 gene is related to circulating p,p'-dde levels in a population-based sample. | Lind L et al. | 2017 | Environment international |
| 28099408 | Multiphenotype association study of patients randomized to initiate antiretroviral regimens in AIDS Clinical Trials Group protocol A5202. | Verma A et al. | 2017 | Pharmacogenetics and genomics |
| 28178648 | Polymorphisms of ESR1, UGT1A1, HCN1, MAP3K1 and CYP2B6 are associated with the prognosis of hormone receptor-positive early breast cancer. | Kuo SH et al. | 2017 | Oncotarget |
| 28184434 | Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities. | Ahmad T et al. | 2017 | Journal of analytical toxicology |
| 28321040 | Whole exome sequencing detects variants of genes that mediate response to anticancer drugs. | Ohnami S et al. | 2017 | The Journal of toxicological sciences |
| 28622951 | Population Approach to Efavirenz Therapy. | Duarte H et al. | 2017 | Journal of pharmaceutical sciences |
| 28673292 | Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women. | Mutagonda RF et al. | 2017 | Malaria journal |
| 29095103 | Distinctiveness of the Roma population within CYP2B6 worldwide variation. | Tomas Ž et al. | 2017 | Pharmacogenomics |
| 29133890 | Longrange PCR-based next-generation sequencing in pharmacokinetics and pharmacodynamics study of propofol among patients under general anaesthesia. | Zakerska-Banaszak O et al. | 2017 | Scientific reports |
| 29559695 | Human cytochrome P450 2B6 genetic variability in Botswana: a case of haplotype diversity and convergent phenotypes. | Tawe L et al. | 2018 | Scientific reports |
| 29623639 | Pharmacogenetics of Opioid Use Disorder Treatment. | Crist RC et al. | 2018 | CNS drugs |
| 29681089 | Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida. | Padula AM et al. | 2018 | American journal of medical genetics. Part A |
| 29756345 | Common Polymorphisms of CYP2B6 Influence Stereoselective Bupropion Disposition. | Kharasch ED et al. | 2019 | Clinical pharmacology and therapeutics |
| 29899984 | Clinical and genetic determinants of nevirapine plasma trough concentration. | Giacomelli A et al. | 2018 | SAGE open medicine |
| 29973058 | CYP2B6 Genetic Polymorphisms, Depression, and Viral Suppression in Adults Living with HIV Initiating Efavirenz-Containing Antiretroviral Therapy Regimens in Uganda: Pooled Analysis of Two Prospective Studies. | Chang JL et al. | 2018 | AIDS research and human retroviruses |
| 29991909 | Distribution of CYP2B6 516G/T pharmacogenetically important polymorphism in the Ukrainian population. | Filiptsova O et al. | 2018 | Saudi pharmaceutical journal |
| 30068618 | Cohort Profile: the Predictors of Breast Cancer Recurrence (ProBe CaRE) Premenopausal Breast Cancer Cohort Study in Denmark. | Collin LJ et al. | 2018 | BMJ open |
| 30239753 | High efavirenz serum concentrations in TB/HIV-coinfected Ugandan adults with a CYP2B6 516 TT genotype on anti-TB treatment. | von Braun A et al. | 2019 | The Journal of antimicrobial chemotherapy |
| 30409984 | Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics. | John SE et al. | 2018 | Scientific reports |
| 30818046 | Cytochrome P450 CYP2B6*6 distribution among Congolese individuals with HIV, Tuberculosis and Malaria infection. | Peko SM et al. | 2019 | International journal of infectious diseases |
| 30907242 | CASP9 genotype confers gentamicin susceptibility in intratympanic treatment of intractable vertigo caused by Ménière's disease. | Huang CJ et al. | 2019 | Acta oto-laryngologica |
| 31019283 | Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests. | Thauvin-Robinet C et al. | 2019 | European journal of human genetics |
| 31056713 | Impact of protocol change on individual factors related to course of adverse reactions to chemotherapy for breast cancer. | Paula DP et al. | 2020 | Supportive care in cancer |
| 31086207 | Implications of genetic variation of common Drug Metabolizing Enzymes and ABC Transporters among the Pakistani Population. | Afsar NA et al. | 2019 | Scientific reports |
| 31137904 | Inter-Individual Variability in Xenobiotic-Metabolizing Enzymes: Implications for Human Aging and Longevity. | Crocco P et al. | 2019 | Genes |
| 31369088 | Meta-analysis of the effect of CYP2B6, CYP2A6, UGT2B7 and CAR polymorphisms on efavirenz plasma concentrations. | Ayuso P et al. | 2019 | The Journal of antimicrobial chemotherapy |
| 31411557 | Pharmacogenomic considerations for medications in the perioperative setting. | Jhun EH et al. | 2019 | Pharmacogenomics |
| 31578116 | Severe hepatotoxicity induced by efavirenz in a treatment-naïve, low body mass index HIV-infected, female patient with no hepatitis and other virus co-infections. | Dragovic G et al. | 2019 | Ultrastructural pathology |
| 31628422 | Influence of CYP2B6 activity score on the pharmacokinetics and safety of single dose efavirenz in healthy volunteers. | Zubiaur P et al. | 2020 | The pharmacogenomics journal |
| 32279544 | Analysis of CYP450 gene allelic variants can predict ifosfamide toxicity in Mexican paediatric patients. | Torres Espíndola LM et al. | 2020 | Biomarkers |
| 32326111 | Role of Genetic Variations in the Hepatic Handling of Drugs. | Marin JJG et al. | 2020 | International journal of molecular sciences |
| 32483134 | The atorvastatin metabolic phenotype shift is influenced by interaction of drug-transporter polymorphisms in Mexican population: results of a randomized trial. | León-Cachón RBR et al. | 2020 | Scientific reports |
| 32609646 | Five genetic polymorphisms of cytochrome P450 enzymes in the Czech non-Roma and Czech Roma population samples. | Dlouhá L et al. | 2020 | Drug metabolism and personalized therapy |
| 32639515 | Bayesian Pathway Analysis for Complex Interactions. | Baurley JW et al. | 2020 | American journal of epidemiology |
| 32681777 | Five genetic polymorphisms of cytochrome P450 enzymes in the Czech non-Roma and Czech Roma population samples. | Dlouhá L et al. | 2020 | Drug metabolism and personalized therapy |
| 32872162 | Pharmacogenomics to Predict Tumor Therapy Response: A Focus on ATP-Binding Cassette Transporters and Cytochromes P450. | Hlaváč V et al. | 2020 | Journal of personalized medicine |
| 33519226 | Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon. | Fernandes MR et al. | 2021 | Pharmacogenomics and personalized medicine |
| 33546554 | Investigating the CYP2B6 rs3745274 and rs3211371 polymorphisms in Methadone-Responder and Non-Responder Addicts in Iran. | Sadat Aghabozorg Afjeh S et al. | 2021 | Iranian biomedical journal |
| 33688237 | Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype. | Fonseca DJ et al. | 2021 | Pharmacogenomics and personalized medicine |
| 33816071 | Influence of Potential Gene Polymorphisms on Propofol Dosage Regimen in Patients Undergoing Abdominal Hysterectomy. | Ivanov E et al. | 2020 | Balkan journal of medical genetics |
| 33839311 | Pharmacogenetic predictors of nevirapine pharmacokinetics in Ghanaian children living with HIV with or without TB coinfection. | Langaee T et al. | 2021 | Infection, genetics and evolution |
| 33875422 | Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment. | Pernaute-Lau L et al. | 2021 | Antimicrobial agents and chemotherapy |
| 34093191 | Pharmacogenetic Associations Between Atazanavir/UGT1A1*28 and Efavirenz/rs3745274 (CYP2B6) Account for Specific Adverse Reactions in Chilean Patients Undergoing Antiretroviral Therapy. | Poblete D et al. | 2021 | Frontiers in pharmacology |
| 34316407 | Efficacy of computational predictions of the functional effect of idiosyncratic pharmacogenetic variants. | McConnell H et al. | 2021 | PeerJ |
| 34385834 | Individualized Drugs' Selection by Evaluation of Drug Properties, Pharmacogenomics and Clinical Parameters: Performance of a Bioinformatic Tool Compared to a Clinically Established Counselling Process. | Borro M et al. | 2021 | Pharmacogenomics and personalized medicine |
| 34386299 | Inter-ethnic genetic variations and novel variant identification in the partial sequences of CYP2B6 gene in Pakistani population. | Ahmed S et al. | 2021 | PeerJ |
| 34398016 | Distribution of alleles, genotypes and haplotypes of the CYP2B6 (rs3745274; rs2279343) and CYP3A4 (rs2740574) genes in the Malian population: Implication for pharmacogenetics. | Kassogue Y et al. | 2021 | Medicine |
| 34415664 | Large variability in plasma efavirenz concentration in Papua New Guinea HIV/AIDS patients associated with high frequency of CYP2B6 516T allele. | Bordin Andriguetti N et al. | 2021 | Clinical and translational science |
| 34434063 | Genetic Polymorphisms of Pesticide-Metabolizing Enzymes and Transporters in Agricultural Workers and Thyroid Hormone Levels. | Sirivarasai J et al. | 2021 | Risk management and healthcare policy |
| 34910759 | Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences. | Chawar C et al. | 2021 | PloS one |
| 34958284 | Warfarin Pharmacogenomics for Precision Medicine in Real-Life Clinical Practice in Southern Africa: Harnessing 73 Variants in 29 Pharmacogenes. | Muyambo S et al. | 2022 | Omics |
| 35169023 | ||||
| 35514050 | Pharmacogenetic predictors of variability in efavirenz pharmacokinetics in an admixed Brazilian HIV cohort. | Ximenez JP et al. | 2022 | British journal of clinical pharmacology |
| 35749156 | Type 2 diabetes: an exploratory genetic association analysis of selected metabolizing enzymes and transporters and effects on cardiovascular and renal biomarkers. | Fankhouser RW et al. | 2022 | Drug metabolism and personalized therapy |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.