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.
rs3892097
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr22:42128945 (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
- C>A / C>G / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.142812 (37801/264690, TOPMED)T=0.138585 (24767/178714, GnomAD_exome)T=0.143402 (19823/138234, GnomAD) (+ 19 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
-
CYP2D6 : Splice Acceptor VariantLOC102723722 : 2KB Upstream Variant
- Publications
- 127 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: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 72526 | C=0.82306 | T=0.17694 | 0.68006 | 0.033946 | 0.285994 | 7 |
| European | Sub | 54194 | C=0.80819 | T=0.19181 | 0.652914 | 0.036535 | 0.310551 | 0 |
| African | Sub | 8362 | C=0.9184 | T=0.0816 | 0.848122 | 0.011241 | 0.140636 | 9 |
| African Others | Sub | 304 | C=0.961 | T=0.039 | 0.921053 | 0.0 | 0.078947 | 0 |
| African American | Sub | 8058 | C=0.9169 | T=0.0831 | 0.845371 | 0.011665 | 0.142964 | 9 |
| Asian | Sub | 212 | C=0.995 | T=0.005 | 0.990566 | 0.0 | 0.009434 | 0 |
| East Asian | Sub | 156 | C=0.994 | T=0.006 | 0.987179 | 0.0 | 0.012821 | 0 |
| Other Asian | Sub | 56 | C=1.00 | T=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 500 | C=0.860 | T=0.140 | 0.744 | 0.024 | 0.232 | 0 |
| Latin American 2 | Sub | 628 | C=0.889 | T=0.111 | 0.789809 | 0.012739 | 0.197452 | 0 |
| South Asian | Sub | 98 | C=0.79 | T=0.21 | 0.632653 | 0.061224 | 0.306122 | 0 |
| Other | Sub | 8532 | C=0.8132 | T=0.1868 | 0.668776 | 0.042429 | 0.288795 | 6 |
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 | C=0.857188 | T=0.142812 |
| gnomAD - Exomes | Global | Study-wide | 178714 | C=0.861415 | T=0.138585 |
| gnomAD - Exomes | European | Sub | 90390 | C=0.82200 | T=0.17800 |
| gnomAD - Exomes | Asian | Sub | 38432 | C=0.93279 | T=0.06721 |
| gnomAD - Exomes | American | Sub | 26500 | C=0.88909 | T=0.11091 |
| gnomAD - Exomes | African | Sub | 9764 | C=0.9160 | T=0.0840 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 8796 | C=0.8196 | T=0.1804 |
| gnomAD - Exomes | Other | Sub | 4832 | C=0.8450 | T=0.1550 |
| gnomAD - Genomes | Global | Study-wide | 138234 | C=0.856598 | T=0.143402 |
| gnomAD - Genomes | European | Sub | 75046 | C=0.81450 | T=0.18550 |
| gnomAD - Genomes | African | Sub | 41108 | C=0.92235 | T=0.07765 |
| gnomAD - Genomes | American | Sub | 13530 | C=0.86881 | T=0.13119 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3292 | C=0.8180 | T=0.1820 |
| gnomAD - Genomes | East Asian | Sub | 3122 | C=0.9933 | T=0.0067 |
| gnomAD - Genomes | Other | Sub | 2136 | C=0.8525 | T=0.1475 |
| Allele Frequency Aggregator | Total | Global | 56356 | C=0.81761 | T=0.18239 |
| Allele Frequency Aggregator | European | Sub | 44246 | C=0.80875 | T=0.19125 |
| Allele Frequency Aggregator | Other | Sub | 7112 | C=0.8138 | T=0.1862 |
| Allele Frequency Aggregator | African | Sub | 3560 | C=0.9070 | T=0.0930 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 628 | C=0.889 | T=0.111 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 500 | C=0.860 | T=0.140 |
| Allele Frequency Aggregator | Asian | Sub | 212 | C=0.995 | T=0.005 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | C=0.79 | T=0.21 |
| ExAC | Global | Study-wide | 36472 | C=0.82924 | T=0.17076 |
| ExAC | Europe | Sub | 19898 | C=0.77460 | T=0.22540 |
| ExAC | Asian | Sub | 11384 | C=0.90724 | T=0.09276 |
| ExAC | African | Sub | 3318 | C=0.8810 | T=0.1190 |
| ExAC | American | Sub | 1558 | C=0.8434 | T=0.1566 |
| ExAC | Other | Sub | 314 | C=0.847 | T=0.153 |
| 14KJPN | JAPANESE | Study-wide | 28188 | C=0.99780 | T=0.00220 |
| 8.3KJPN | JAPANESE | Study-wide | 16738 | C=0.99755 | T=0.00245 |
| GO Exome Sequencing Project | Global | Study-wide | 12804 | C=0.84895 | T=0.15105 |
| GO Exome Sequencing Project | European American | Sub | 8494 | C=0.8093 | T=0.1907 |
| GO Exome Sequencing Project | African American | Sub | 4310 | C=0.9271 | T=0.0729 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.9058 | T=0.0942 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.9373 | T=0.0627 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.8112 | T=0.1888 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.8918 | T=0.1082 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.9983 | T=0.0017 |
| 1000Genomes_30x | American | Sub | 980 | C=0.878 | T=0.122 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.9069 | T=0.0931 |
| 1000Genomes | African | Sub | 1322 | C=0.9395 | T=0.0605 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.9980 | T=0.0020 |
| 1000Genomes | Europe | Sub | 1006 | C=0.8141 | T=0.1859 |
| 1000Genomes | South Asian | Sub | 978 | C=0.891 | T=0.109 |
| 1000Genomes | American | Sub | 694 | C=0.870 | T=0.130 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.7888 | T=0.2112 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.7934 | T=0.2066 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2916 | C=0.9959 | T=0.0041 |
| PharmGKB Aggregated | Global | Study-wide | 1466 | C=0.8295 | T=0.1705 |
| PharmGKB Aggregated | PA151707927 | Sub | 556 | C=0.793 | T=0.207 |
| PharmGKB Aggregated | PA149579229 | Sub | 354 | C=0.929 | T=0.071 |
| PharmGKB Aggregated | PA134816817 | Sub | 344 | C=0.788 | T=0.212 |
| PharmGKB Aggregated | PA135895850 | Sub | 212 | C=0.825 | T=0.175 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.786 | T=0.214 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.817 | T=0.183 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.985 | T=0.015 |
| Qatari | Global | Study-wide | 214 | C=0.897 | T=0.103 |
| SGDP_PRJ | Global | Study-wide | 70 | C=0.46 | T=0.54 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.88 | T=0.12 |
| Siberian | Global | Study-wide | 2 | C=0.5 | T=0.5 |
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 22 | NC_000022.11:g.42128945C>A |
| GRCh38.p14 chr 22 | NC_000022.11:g.42128945C>G |
| GRCh38.p14 chr 22 | NC_000022.11:g.42128945C>T |
| gene/pseudogene RefSeqGene (LRG_303) | NG_008376.4:g.6866G>T |
| gene/pseudogene RefSeqGene (LRG_303) | NG_008376.4:g.6866G>C |
| gene/pseudogene RefSeqGene (LRG_303) | NG_008376.4:g.6866G>A |
| GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 | NW_015148968.1:g.6686T>C |
| GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 | NW_015148968.1:g.6686T>A |
| GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 | NW_015148968.1:g.6686T>G |
| GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 | NW_014040931.1:g.22534C>A |
| GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 | NW_014040931.1:g.22534C>G |
| GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 | NW_014040931.1:g.22534C>T |
| GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 | NW_009646208.1:g.14511C>A |
| GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 | NW_009646208.1:g.14511C>G |
| GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 | NW_009646208.1:g.14511C>T |
| GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 | NW_004504305.1:g.51272T>C |
| GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 | NW_004504305.1:g.51272T>A |
| GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 | NW_004504305.1:g.51272T>G |
| GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 | NT_187682.1:g.51286C>A |
| GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 | NT_187682.1:g.51286C>G |
| GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 | NT_187682.1:g.51286C>T |
| GRCh37.p13 chr 22 | NC_000022.10:g.42524947C>A |
| GRCh37.p13 chr 22 | NC_000022.10:g.42524947C>G |
| GRCh37.p13 chr 22 | NC_000022.10:g.42524947C>T |
Gene: CYP2D6, cytochrome P450 family 2 subfamily D member 6
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CYP2D6 transcript variant 1 | NM_000106.6:c. | N/A | Splice Acceptor Variant |
| CYP2D6 transcript variant 2 | NM_001025161.3:c. | N/A | Splice Acceptor 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:
31928
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000018385.24 | Debrisoquine, poor metabolism of | Drug-Response |
| RCV000342450.5 | not provided | Other |
| RCV000613767.2 | not specified | Likely-Benign |
| RCV001028774.3 | Tramadol response | Drug-Response |
| RCV001030442.3 | Deutetrabenazine response | Drug-Response |
| RCV001093714.3 | Tamoxifen response | 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 | C= | A | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 22 | NC_000022.11:g.42128945= | NC_000022.11:g.42128945C>A | NC_000022.11:g.42128945C>G | NC_000022.11:g.42128945C>T |
| gene/pseudogene RefSeqGene (LRG_303) | NG_008376.4:g.6866= | NG_008376.4:g.6866G>T | NG_008376.4:g.6866G>C | NG_008376.4:g.6866G>A |
| GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 | NW_015148968.1:g.6686T>C | NW_015148968.1:g.6686T>A | NW_015148968.1:g.6686T>G | NW_015148968.1:g.6686= |
| GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 | NW_014040931.1:g.22534= | NW_014040931.1:g.22534C>A | NW_014040931.1:g.22534C>G | NW_014040931.1:g.22534C>T |
| GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 | NW_009646208.1:g.14511= | NW_009646208.1:g.14511C>A | NW_009646208.1:g.14511C>G | NW_009646208.1:g.14511C>T |
| GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 | NW_004504305.1:g.51272T>C | NW_004504305.1:g.51272T>A | NW_004504305.1:g.51272T>G | NW_004504305.1:g.51272= |
| GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 | NT_187682.1:g.51286= | NT_187682.1:g.51286C>A | NT_187682.1:g.51286C>G | NT_187682.1:g.51286C>T |
| GRCh37.p13 chr 22 | NC_000022.10:g.42524947= | NC_000022.10:g.42524947C>A | NC_000022.10:g.42524947C>G | NC_000022.10:g.42524947C>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#.
83 SubSNP,
21 Frequency,
6 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | TSC-CSHL | ss1290514 | Oct 10, 2002 (108) |
| 2 | HGBASE | ss2420839 | Nov 14, 2000 (136) |
| 3 | BIOVENTURES | ss32476045 | May 24, 2005 (126) |
| 4 | ABI | ss41520658 | Mar 10, 2006 (126) |
| 5 | PHARMGKB_COBRA | ss69366255 | May 17, 2007 (127) |
| 6 | PHARMGKB_PNAT | ss69366289 | May 17, 2007 (127) |
| 7 | PHARMGKB_PNAT | ss84150025 | Dec 15, 2007 (130) |
| 8 | PHARMGKB_AB_DME | ss84158057 | Dec 15, 2007 (130) |
| 9 | BCMHGSC_JDW | ss91930849 | Mar 24, 2008 (129) |
| 10 | ENSEMBL | ss138360499 | Dec 01, 2009 (131) |
| 11 | ILLUMINA | ss154276717 | Dec 01, 2009 (136) |
| 12 | ILLUMINA | ss159453393 | Dec 01, 2009 (136) |
| 13 | ILLUMINA | ss160653097 | Dec 01, 2009 (136) |
| 14 | COMPLETE_GENOMICS | ss168008132 | Jul 04, 2010 (132) |
| 15 | ILLUMINA | ss173667897 | Jul 04, 2010 (136) |
| 16 | 1000GENOMES | ss341198157 | May 09, 2011 (134) |
| 17 | ILLUMINA | ss481826976 | Sep 08, 2015 (146) |
| 18 | 1000GENOMES | ss491194348 | May 04, 2012 (137) |
| 19 | EXOME_CHIP | ss491572618 | May 04, 2012 (137) |
| 20 | CLINSEQ_SNP | ss491825735 | May 04, 2012 (137) |
| 21 | TISHKOFF | ss566667076 | Apr 25, 2013 (138) |
| 22 | SSMP | ss662596366 | Apr 25, 2013 (138) |
| 23 | NHLBI-ESP | ss713628908 | Apr 25, 2013 (138) |
| 24 | ILLUMINA | ss832964925 | Aug 21, 2014 (136) |
| 25 | ILLUMINA | ss833555754 | Aug 21, 2014 (136) |
| 26 | EVA-GONL | ss995393808 | Aug 21, 2014 (136) |
| 27 | 1000GENOMES | ss1367336138 | Aug 21, 2014 (136) |
| 28 | DDI | ss1429268130 | Apr 01, 2015 (144) |
| 29 | OMIM-CURATED-RECORDS | ss1505810973 | Oct 12, 2018 (152) |
| 30 | EVA_GENOME_DK | ss1579767143 | Apr 01, 2015 (144) |
| 31 | EVA_UK10K_ALSPAC | ss1640083680 | Apr 01, 2015 (144) |
| 32 | EVA_UK10K_TWINSUK | ss1683077713 | Apr 01, 2015 (144) |
| 33 | EVA_EXAC | ss1694379399 | Apr 01, 2015 (144) |
| 34 | EVA_MGP | ss1711571586 | Apr 01, 2015 (144) |
| 35 | WEILL_CORNELL_DGM | ss1938961293 | Feb 12, 2016 (147) |
| 36 | JJLAB | ss2030253491 | Sep 14, 2016 (149) |
| 37 | USC_VALOUEV | ss2158873716 | Dec 20, 2016 (150) |
| 38 | ILLUMINA | ss2633883900 | Nov 08, 2017 (151) |
| 39 | ILLUMINA | ss2635112632 | Nov 08, 2017 (151) |
| 40 | ILLUMINA | ss2710959487 | Nov 08, 2017 (151) |
| 41 | GNOMAD | ss2745191825 | Nov 08, 2017 (151) |
| 42 | GNOMAD | ss2750571720 | Nov 08, 2017 (151) |
| 43 | AFFY | ss2985857669 | Nov 08, 2017 (151) |
| 44 | SWEGEN | ss3019375530 | Nov 08, 2017 (151) |
| 45 | CSIRBIOHTS | ss3029638775 | Nov 08, 2017 (151) |
| 46 | CSHL | ss3352855498 | Nov 08, 2017 (151) |
| 47 | ILLUMINA | ss3636565847 | Oct 12, 2018 (152) |
| 48 | ILLUMINA | ss3638385695 | Oct 12, 2018 (152) |
| 49 | OMUKHERJEE_ADBS | ss3646568229 | Oct 12, 2018 (152) |
| 50 | EVA_DECODE | ss3708287360 | Jul 13, 2019 (153) |
| 51 | ACPOP | ss3743969269 | Jul 13, 2019 (153) |
| 52 | EVA | ss3759434309 | Jul 13, 2019 (153) |
| 53 | PACBIO | ss3788837916 | Jul 13, 2019 (153) |
| 54 | PACBIO | ss3793701138 | Jul 13, 2019 (153) |
| 55 | PACBIO | ss3798587620 | Jul 13, 2019 (153) |
| 56 | KHV_HUMAN_GENOMES | ss3822593683 | Jul 13, 2019 (153) |
| 57 | EVA | ss3825454852 | Apr 27, 2020 (154) |
| 58 | EVA | ss3836012234 | Apr 27, 2020 (154) |
| 59 | EVA | ss3841634487 | Apr 27, 2020 (154) |
| 60 | SGDP_PRJ | ss3890637688 | Apr 27, 2020 (154) |
| 61 | KRGDB | ss3941035008 | Apr 27, 2020 (154) |
| 62 | FSA-LAB | ss3984237325 | Apr 26, 2021 (155) |
| 63 | EVA | ss3986866471 | Apr 26, 2021 (155) |
| 64 | VINODS | ss4034712630 | Apr 26, 2021 (155) |
| 65 | VINODS | ss4034758253 | Apr 26, 2021 (155) |
| 66 | TOPMED | ss5110780671 | Apr 26, 2021 (155) |
| 67 | TOMMO_GENOMICS | ss5232837172 | Apr 26, 2021 (155) |
| 68 | EVA | ss5237676621 | Oct 16, 2022 (156) |
| 69 | 1000G_HIGH_COVERAGE | ss5311255654 | Oct 16, 2022 (156) |
| 70 | EVA | ss5512393103 | Oct 16, 2022 (156) |
| 71 | EVA | ss5512474018 | Oct 16, 2022 (156) |
| 72 | 1000G_HIGH_COVERAGE | ss5618884803 | Oct 16, 2022 (156) |
| 73 | SANFORD_IMAGENETICS | ss5664576725 | Oct 16, 2022 (156) |
| 74 | TOMMO_GENOMICS | ss5794029151 | Oct 16, 2022 (156) |
| 75 | EVA | ss5799405062 | Oct 16, 2022 (156) |
| 76 | YY_MCH | ss5818748097 | Oct 16, 2022 (156) |
| 77 | EVA | ss5822131240 | Oct 16, 2022 (156) |
| 78 | EVA | ss5848570317 | Oct 16, 2022 (156) |
| 79 | EVA | ss5853409969 | Oct 16, 2022 (156) |
| 80 | EVA | ss5936464776 | Oct 16, 2022 (156) |
| 81 | EVA | ss5936580640 | Oct 16, 2022 (156) |
| 82 | EVA | ss5959434918 | Oct 16, 2022 (156) |
| 83 | EVA | ss5981139002 | Oct 16, 2022 (156) |
| 84 | 1000Genomes | NC_000022.10 - 42524947 | Oct 12, 2018 (152) |
| 85 | 1000Genomes_30x | NC_000022.11 - 42128945 | Oct 16, 2022 (156) |
| 86 | The Avon Longitudinal Study of Parents and Children | NC_000022.10 - 42524947 | Oct 12, 2018 (152) |
| 87 | ExAC | NC_000022.10 - 42524947 | Oct 12, 2018 (152) |
| 88 | The Danish reference pan genome | NC_000022.10 - 42524947 | Apr 27, 2020 (154) |
| 89 | gnomAD - Genomes | NC_000022.11 - 42128945 | Apr 26, 2021 (155) |
| 90 | gnomAD - Exomes | NC_000022.10 - 42524947 | Jul 13, 2019 (153) |
| 91 | GO Exome Sequencing Project | NC_000022.10 - 42524947 | Oct 12, 2018 (152) |
| 92 | Genome of the Netherlands Release 5 | NC_000022.10 - 42524947 | Apr 27, 2020 (154) |
| 93 | KOREAN population from KRGDB | NC_000022.10 - 42524947 | Apr 27, 2020 (154) |
| 94 | Medical Genome Project healthy controls from Spanish population | NC_000022.10 - 42524947 | Apr 27, 2020 (154) |
| 95 | Northern Sweden | NC_000022.10 - 42524947 | Jul 13, 2019 (153) |
| 96 | PharmGKB Aggregated | NC_000022.11 - 42128945 | Apr 27, 2020 (154) |
| 97 | Qatari | NC_000022.10 - 42524947 | Apr 27, 2020 (154) |
| 98 | SGDP_PRJ | NC_000022.10 - 42524947 | Apr 27, 2020 (154) |
| 99 | Siberian | NC_000022.10 - 42524947 | Apr 27, 2020 (154) |
| 100 | 8.3KJPN | NC_000022.10 - 42524947 | Apr 26, 2021 (155) |
| 101 | 14KJPN | NC_000022.11 - 42128945 | Oct 16, 2022 (156) |
| 102 | TopMed | NC_000022.11 - 42128945 | Apr 26, 2021 (155) |
| 103 | UK 10K study - Twins | NC_000022.10 - 42524947 | Oct 12, 2018 (152) |
| 104 | ALFA | NC_000022.11 - 42128945 | Apr 26, 2021 (155) |
| 105 | ClinVar | RCV000018385.24 | Oct 16, 2022 (156) |
| 106 | ClinVar | RCV000342450.5 | Oct 16, 2022 (156) |
| 107 | ClinVar | RCV000613767.2 | Oct 16, 2022 (156) |
| 108 | ClinVar | RCV001028774.3 | Oct 16, 2022 (156) |
| 109 | ClinVar | RCV001030442.3 | Oct 16, 2022 (156) |
| 110 | ClinVar | RCV001093714.3 | 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) |
|---|---|
| rs1800716 | Aug 25, 2014 (136) |
| rs28371711 | Mar 10, 2006 (126) |
| rs60082401 | May 25, 2008 (130) |
| rs606231227 | Feb 02, 2015 (136) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss5512474018 | NC_000022.10:42524946:C:A | NC_000022.11:42128944:C:A | |
| ss5512474018, ss5936464776 | NC_000022.10:42524946:C:G | NC_000022.11:42128944:C:G | |
| ss91930849, ss168008132, ss491825735, ss2635112632 | NC_000022.9:40854890:C:T | NC_000022.11:42128944:C:T | (self) |
| 80894557, 44747536, 5962716, 5932082, 14524603, 1911682, 19935872, 48212402, 687346, 17254134, 21003215, 42654668, 11390070, 90806479, 44747536, ss341198157, ss481826976, ss491194348, ss491572618, ss566667076, ss662596366, ss713628908, ss832964925, ss833555754, ss995393808, ss1367336138, ss1429268130, ss1579767143, ss1640083680, ss1683077713, ss1694379399, ss1711571586, ss1938961293, ss2030253491, ss2158873716, ss2633883900, ss2710959487, ss2745191825, ss2750571720, ss2985857669, ss3019375530, ss3029638775, ss3352855498, ss3636565847, ss3638385695, ss3646568229, ss3743969269, ss3759434309, ss3788837916, ss3793701138, ss3798587620, ss3825454852, ss3836012234, ss3841634487, ss3890637688, ss3941035008, ss3984237325, ss3986866471, ss5232837172, ss5512393103, ss5512474018, ss5664576725, ss5799405062, ss5822131240, ss5848570317, ss5936464776, ss5936580640, ss5959434918, ss5981139002 | NC_000022.10:42524946:C:T | NC_000022.11:42128944:C:T | (self) |
| RCV000018385.24, RCV000342450.5, RCV000613767.2, RCV001028774.3, RCV001030442.3, RCV001093714.3, 106410738, 571269968, 7683, 127866255, 385889618, 10789689630, ss1505810973, ss3708287360, ss3822593683, ss5110780671, ss5237676621, ss5311255654, ss5618884803, ss5794029151, ss5818748097, ss5853409969 | NC_000022.11:42128944:C:T | NC_000022.11:42128944:C:T | (self) |
| ss1290514, ss2420839, ss32476045, ss41520658, ss69366255, ss69366289, ss84150025, ss84158057, ss138360499, ss154276717, ss159453393, ss160653097, ss173667897 | NT_011520.12:21915515:C:T | NC_000022.11:42128944:C:T | (self) |
| ss4034758253 | NT_187682.1:51285:C:T | NC_000022.11:42128944:C:T | (self) |
| ss4034712630 | NW_004504305.1:51271:T:T | NC_000022.11:42128944:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
127
citations for rs3892097
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 1346258 | Analysis of the CYP2D6 gene in relation to debrisoquin and desipramine hydroxylation in a Swedish population. | Dahl ML et al. | 1992 | Clinical pharmacology and therapeutics |
| 1978251 | Identification of the primary gene defect at the cytochrome P450 CYP2D locus. | Gough AC et al. | 1990 | Nature |
| 1978565 | The human CYP2D locus associated with a common genetic defect in drug oxidation: a G1934----A base change in intron 3 of a mutant CYP2D6 allele results in an aberrant 3' splice recognition site. | Hanioka N et al. | 1990 | American journal of human genetics |
| 2211621 | Multiple mutations of the human cytochrome P450IID6 gene (CYP2D6) in poor metabolizers of debrisoquine. Study of the functional significance of individual mutations by expression of chimeric genes. | Kagimoto M et al. | 1990 | The Journal of biological chemistry |
| 7574463 | The CYP2D6B allele is associated with a milder synaptic pathology in Alzheimer's disease. | Chen X et al. | 1995 | Annals of neurology |
| 8181196 | Single-dose kinetics of clomipramine: relationship to the sparteine and S-mephenytoin oxidation polymorphisms. | Nielsen KK et al. | 1994 | Clinical pharmacology and therapeutics |
| 8867869 | Steady-state plasma levels of nortriptyline and its 10-hydroxy metabolite: relationship to the CYP2D6 genotype. | Dahl ML et al. | 1996 | Psychopharmacology |
| 9585799 | 10-Hydroxylation of nortriptyline in white persons with 0, 1, 2, 3, and 13 functional CYP2D6 genes. | Dalén P et al. | 1998 | Clinical pharmacology and therapeutics |
| 9918137 | CYP2D6 phenotype-genotype relationships in African-Americans and Caucasians in Los Angeles. | Leathart JB et al. | 1998 | Pharmacogenetics |
| 10460069 | Clomipramine dose-effect study in patients with depression: clinical end points and pharmacokinetics. Danish University Antidepressant Group (DUAG). | 1999 | Clinical pharmacology and therapeutics | |
| 11682257 | CYP2D6 genotyping with oligonucleotide microarrays and nortriptyline concentrations in geriatric depression. | Murphy GM Jr et al. | 2001 | Neuropsychopharmacology |
| 12360109 | Contributions of CYP2D6, CYP2C9 and CYP2C19 to the biotransformation of E- and Z-doxepin in healthy volunteers. | Kirchheiner J et al. | 2002 | Pharmacogenetics |
| 14520122 | Effects of polymorphisms in CYP2D6, CYP2C9, and CYP2C19 on trimipramine pharmacokinetics. | Kirchheiner J et al. | 2003 | Journal of clinical psychopharmacology |
| 14646691 | Trimipramine pharmacokinetics after intravenous and oral administration in carriers of CYP2D6 genotypes predicting poor, extensive and ultrahigh activity. | Kirchheiner J et al. | 2003 | Pharmacogenetics |
| 14716707 | No evidence of increased adverse drug reactions in cytochrome P450 CYP2D6 poor metabolizers treated with fluoxetine or nortriptyline. | Roberts RL et al. | 2004 | Human psychopharmacology |
| 15115913 | Impact of CYP2D6 intermediate metabolizer alleles on single-dose desipramine pharmacokinetics. | Furman KD et al. | 2004 | Pharmacogenetics |
| 15205367 | Allele-specific change of concentration and functional gene dose for the prediction of steady-state serum concentrations of amitriptyline and nortriptyline in CYP2C19 and CYP2D6 extensive and intermediate metabolizers. | Steimer W et al. | 2004 | Clinical chemistry |
| 15252821 | Clomipramine, fluoxetine and CYP2D6 metabolic capacity in depressed patients. | Vandel P et al. | 2004 | Human psychopharmacology |
| 16024198 | CYP2D6 and CYP2C19 genotypes and amitriptyline metabolite ratios in a series of medicolegal autopsies. | Koski A et al. | 2006 | Forensic science international |
| 16361630 | Pharmacogenetics of tamoxifen biotransformation is associated with clinical outcomes of efficacy and hot flashes. | Goetz MP et al. | 2005 | Journal of clinical oncology |
| 16871470 | Adverse drug reactions following nonresponse in a depressed patient with CYP2D6 deficiency and low CYP 3A4/5 activity. | Stephan PL et al. | 2006 | Pharmacopsychiatry |
| 17008819 | A poor metabolizer for cytochromes P450 2D6 and 2C19: a case report on antidepressant treatment. | Johnson M et al. | 2006 | CNS spectrums |
| 17244352 | Genetic variants of CYP3A5, CYP2D6, SULT1A1, UGT2B15 and tamoxifen response in postmenopausal patients with breast cancer. | Wegman P et al. | 2007 | Breast cancer research |
| 17667959 | Association of graded allele-specific changes in CYP2D6 function with imipramine dose requirement in a large group of depressed patients. | Schenk PW et al. | 2008 | Molecular psychiatry |
| 17721180 | A fatal doxepin poisoning associated with a defective CYP2D6 genotype. | Koski A et al. | 2007 | The American journal of forensic medicine and pathology |
| 17764479 | The CYP2D6 polymorphism in relation to the metabolism of amitriptyline and nortriptyline in the Faroese population. | Halling J et al. | 2008 | British journal of clinical pharmacology |
| 18024866 | Breast cancer treatment outcome with adjuvant tamoxifen relative to patient CYP2D6 and CYP2C19 genotypes. | Schroth W et al. | 2007 | Journal of clinical oncology |
| 18070221 | Influence of the CYP2D6*4 polymorphism on dose, switching and discontinuation of antidepressants. | Bijl MJ et al. | 2008 | British journal of clinical pharmacology |
| 18359183 | Life-threatening dextromethorphan intoxication associated with interaction with amitriptyline in a poor CYP2D6 metabolizer: a single case re-exposure study. | Forget P et al. | 2008 | Journal of pain and symptom management |
| 18547414 | Genotyping panel for assessing response to cancer chemotherapy. | Dai Z et al. | 2008 | BMC medical genomics |
| 19537956 | CYP1A1 genotype modifies the impact of smoking on effectiveness of HAART among women. | Feldman DN et al. | 2009 | AIDS education and prevention |
| 19639055 | ||||
| 19809024 | Association between CYP2D6 polymorphisms and outcomes among women with early stage breast cancer treated with tamoxifen. | Schroth W et al. | 2009 | JAMA |
| 20174590 | Response to serotonin reuptake inhibitors in OCD is not influenced by common CYP2D6 polymorphisms. | Van Nieuwerburgh FC et al. | 2009 | International journal of psychiatry in clinical practice |
| 20435227 | Clinical assessment incorporating a personal genome. | Ashley EA et al. | 2010 | Lancet (London, England) |
| 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 |
| 20531370 | Association between CYP2C19*17 and metabolism of amitriptyline, citalopram and clomipramine in Dutch hospitalized patients. | de Vos A et al. | 2011 | The pharmacogenomics journal |
| 20548328 | High-efficiency genotype analysis from formalin-fixed, paraffin-embedded tumor tissues. | Sikora MJ et al. | 2011 | The pharmacogenomics journal |
| 20847277 | Genotyping of DNA samples isolated from formalin-fixed paraffin-embedded tissues using preamplification. | Baak-Pablo R et al. | 2010 | The Journal of molecular diagnostics |
| 20849243 | Impact of CYP2D6*4 genotype on progression free survival in tamoxifen breast cancer treatment. | Stingl JC et al. | 2010 | Current medical research and opinion |
| 20921971 | Mapping genes that predict treatment outcome in admixed populations. | Baye TM et al. | 2010 | The pharmacogenomics journal |
| 21152250 | Concordance of metabolic enzyme genotypes assayed from paraffin-embedded, formalin-fixed breast tumors and normal lymphatic tissue. | Ahern TP et al. | 2010 | Clinical epidemiology |
| 21289622 | Pharmacogenomics of the RNA world: structural RNA polymorphisms in drug therapy. | Sadee W et al. | 2011 | Clinical pharmacology and therapeutics |
| 21480951 | Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients. | Lim JS et al. | 2011 | British journal of clinical pharmacology |
| 21614669 | Prolonged toxicity after amitriptyline overdose in a patient deficient in CYP2D6 activity. | Smith JC et al. | 2011 | Journal of medical toxicology |
| 21712189 | Analysis of pharmacogenetic traits in two distinct South African populations. | Ikediobi O et al. | 2011 | Human genomics |
| 21750172 | Functional polymorphisms in UDP-glucuronosyl transferases and recurrence in tamoxifen-treated breast cancer survivors. | Ahern TP et al. | 2011 | Cancer epidemiology, biomarkers & prevention |
| 21790905 | CYP2B6 SNPs are associated with methadone dose required for effective treatment of opioid addiction. | Levran O et al. | 2013 | Addiction biology |
| 21840870 | Association of ABCB1, 5-HT3B receptor and CYP2D6 genetic polymorphisms with ondansetron and metoclopramide antiemetic response in Indonesian cancer patients treated with highly emetogenic chemotherapy. | Perwitasari DA et al. | 2011 | Japanese journal of clinical oncology |
| 22111602 | Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians. | Brown KC et al. | 2012 | Pharmacogenomics |
| 22183189 | The risk of recurrence in breast cancer patients treated with tamoxifen: polymorphisms of CYP2D6 and ABCB1. | Teh LK et al. | 2012 | The AAPS journal |
| 22389859 | Pharmacogenetics and gender association with psychotic episodes on nortriptyline lower doses: patient cases. | Piatkov I et al. | 2011 | ISRN pharmaceutics |
| 22448283 | Genotyping performance between saliva and blood-derived genomic DNAs on the DMET array: a comparison. | Hu Y et al. | 2012 | PloS one |
| 22479249 | Whole genome amplification of DNA for genotyping pharmacogenetics candidate genes. | Philips S et al. | 2012 | Frontiers in pharmacology |
| 22482072 | Genomics of Dementia: APOE- and CYP2D6-Related Pharmacogenetics. | Cacabelos R et al. | 2012 | International journal of Alzheimer's disease |
| 22638694 | CYP2D6 genotyping and use of antidepressants in breast cancer patients: test development for clinical application. | van der Merwe N et al. | 2012 | Metabolic brain disease |
| 22688145 | Clinical response and side effects of metoclopramide: associations with clinical, demographic, and pharmacogenetic parameters. | Parkman HP et al. | 2012 | Journal of clinical gastroenterology |
| 22992668 | Pharmacogenomics knowledge for personalized medicine. | Whirl-Carrillo M et al. | 2012 | Clinical pharmacology and therapeutics |
| 23130019 | Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations. | Roco A et al. | 2012 | Frontiers in genetics |
| 23133420 | Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin. | Suarez-Kurtz G et al. | 2012 | Frontiers in pharmacology |
| 23226064 | Pharmacogenomic considerations in opioid analgesia. | Vuilleumier PH et al. | 2012 | Pharmacogenomics and personalized medicine |
| 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 |
| 24151610 | Polymorphisms in the human cytochrome P450 and arylamine N-acetyltransferase: susceptibility to head and neck cancers. | Khlifi R et al. | 2013 | BioMed research international |
| 24193112 | An investigation of CYP2D6 genotype and response to metoprolol CR/XL during dose titration in patients with heart failure: a MERIT-HF substudy. | Batty JA et al. | 2014 | Clinical pharmacology and therapeutics |
| 24701578 | The role of single nucleotide polymorphisms in predicting prostate cancer risk and therapeutic decision making. | Van den Broeck T et al. | 2014 | BioMed research international |
| 24779372 | Applying genome-wide gene-based expression quantitative trait locus mapping to study population ancestry and pharmacogenetics. | Yang HC et al. | 2014 | BMC genomics |
| 24868171 | Possible impact of the CYP2D6*10 polymorphism on the nonlinear pharmacokinetic parameter estimates of paroxetine in Japanese patients with major depressive disorders. | Saruwatari J et al. | 2014 | Pharmacogenomics and personalized medicine |
| 24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
| 25047911 | Response to CYP2D6 substrate antidepressants is predicted by a CYP2D6 composite phenotype based on genotype and comedications with CYP2D6 inhibitors. | Gressier F et al. | 2015 | Journal of neural transmission (Vienna, Austria |
| 25419701 | Exploring the distribution of genetic markers of pharmacogenomics relevance in Brazilian and Mexican populations. | Bonifaz-Peña V et al. | 2014 | PloS one |
| 25685889 | Identification of common genetic variants controlling transcript isoform variation in human whole blood. | Zhang X et al. | 2015 | Nature genetics |
| 26369774 | Impact of New Genomic Technologies on Understanding Adverse Drug Reactions. | Maggo SD et al. | 2016 | Clinical pharmacokinetics |
| 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 |
| 26793106 | CYP2D7 Sequence Variation Interferes with TaqMan CYP2D6 (*) 15 and (*) 35 Genotyping. | Riffel AK et al. | 2015 | Frontiers in pharmacology |
| 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 |
| 26942037 | Genetic Profile, Environmental Exposure, and Their Interaction in Parkinson's Disease. | Polito L et al. | 2016 | Parkinson's disease |
| 27108086 | Multiplex SNaPshot-a new simple and efficient CYP2D6 and ADRB1 genotyping method. | Ben S et al. | 2016 | Human genomics |
| 27171561 | Liver Function Test Abnormalities in Depressed Patients Treated with Antidepressants: A Real-World Systematic Observational Study in Psychiatric Settings. | Voican CS et al. | 2016 | PloS one |
| 27467145 | Variation in Human Cytochrome P-450 Drug-Metabolism Genes: A Gateway to the Understanding of Plasmodium vivax Relapses. | Silvino AC et al. | 2016 | PloS one |
| 27529241 | The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors-Is Pharmacogenetics the Key? | Daud AN et al. | 2016 | International journal of molecular sciences |
| 27536078 | Factors affecting the development of adverse drug reactions to β-blockers in hospitalized cardiac patient population. | Mugoša S et al. | 2016 | Patient preference and adherence |
| 27636550 | A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. | Mizzi C et al. | 2016 | PloS one |
| 27738374 | Investigation of CYP2D6 Gene Polymorphisms in Turkish Population. | Taskin B et al. | 2016 | Psychopharmacology bulletin |
| 27785397 | CYP2D6 allele distribution in Macedonians, Albanians and Romanies in the Republic of Macedonia. | Kuzmanovska M et al. | 2015 | Balkan journal of medical genetics |
| 27942231 | CYP2D6 polymorphisms and their influence on risperidone treatment. | Puangpetch A et al. | 2016 | Pharmacogenomics and personalized medicine |
| 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 |
| 28343093 | Influence of genetic variants of CYP2D6, CYP2C9, CYP2C19 and CYP3A4 on antiepileptic drug metabolism in pediatric patients with refractory epilepsy. | López-García MA et al. | 2017 | Pharmacological reports |
| 28775993 | Gene variants of CYP1A1 and CYP2D6 and the risk of childhood acute lymphoblastic leukaemia; outcome of a case control study from Kashmir, India. | Nida S et al. | 2017 | Molecular biology research communications |
| 29193749 | Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years. | Borobia AM et al. | 2018 | Clinical and translational science |
| 29279099 | A review of the literature on the relationships between genetic polymorphisms and chemotherapy-induced nausea and vomiting. | Singh KP et al. | 2018 | Critical reviews in oncology/hematology |
| 29369497 | Pharmacogenetics of Risperidone-Induced Insulin Resistance in Children and Adolescents with Autism Spectrum Disorder. | Sukasem C et al. | 2018 | Basic & clinical pharmacology & toxicology |
| 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 |
| 29736057 | A preliminary study of association of genetic variants with early response to olanzapine in schizophrenia. | Singh A et al. | 2018 | Indian journal of psychiatry |
| 29789925 | Associations of polymorphisms of CYP2D6 and CYP2C9 with early onset severe pre-eclampsia and response to labetalol therapy. | Sun CJ et al. | 2018 | Archives of gynecology and obstetrics |
| 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 |
| 30093744 | A Prospective Study to Evaluate the Effect of CYP2D6 Polymorphism on Plasma level of Risperidone and its Metabolite in North Indian Patients with Schizophrenia. | Chavan BS et al. | 2018 | Indian journal of psychological medicine |
| 30093869 | Biological Predictors of Clozapine Response: A Systematic Review. | Samanaite R et al. | 2018 | Frontiers in psychiatry |
| 30821899 | Determinants of Cytochrome P450 2D6 mRNA Levels in Healthy Human Liver Tissue. | Ning M et al. | 2019 | Clinical and translational science |
| 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 |
| 31086207 | Implications of genetic variation of common Drug Metabolizing Enzymes and ABC Transporters among the Pakistani Population. | Afsar NA et al. | 2019 | Scientific reports |
| 31100205 | Effects of CYP2D6 activity on the efficacy and safety of mirtazapine in patients with depressive disorders and comorbid alcohol use disorder. | Zastrozhin MS et al. | 2019 | Canadian journal of physiology and pharmacology |
| 31129315 | Systematic Review and Meta-Analysis of Genetic Risk of Developing Chronic Postsurgical Pain. | Chidambaran V et al. | 2020 | The journal of pain |
| 31820125 | Liver-Metabolizing Genes and Their Relationship to the Performance of Elite Spanish Male Endurance Athletes; a Prospective Transversal Study. | Varillas Delgado D et al. | 2019 | Sports medicine - open |
| 31858263 | Defining screening panel of functional variants of CYP1A1, CYP2C9, CYP2C19, CYP2D6, and CYP3A4 genes in Serbian population. | Skadrić I et al. | 2020 | International journal of legal medicine |
| 32303955 | Clinically relevant pharmacogenetic markers in Tatars and Balkars. | Abdullaev SP et al. | 2020 | Molecular biology reports |
| 32326111 | Role of Genetic Variations in the Hepatic Handling of Drugs. | Marin JJG et al. | 2020 | International journal of molecular sciences |
| 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 |
| 32827391 | Pharmacogenetics of antipsychotics in adolescents with acute psychotic episode during first 14 days after admission: effectiveness and safety evaluation. | Ivashchenko DV 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 |
| 33013391 | Sickle Cell Anemia: Variants in the CYP2D6, CAT, and SLC14A1 Genes Are Associated With Improved Hydroxyurea Response. | Yahouédéhou SCMA et al. | 2020 | Frontiers in pharmacology |
| 33519226 | Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon. | Fernandes MR et al. | 2021 | Pharmacogenomics and personalized medicine |
| 33564555 | Olanzapine-Associated Rhabdomyolysis: A Case Report. | Skryabin VY et al. | 2021 | Cureus |
| 33569925 | Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects. | Padula AM et al. | 2021 | Birth defects research |
| 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 |
| 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 |
| 34366834 | CYP2D6 Allele Frequency in Five Malaria Vivax Endemic Areas From Brazilian Amazon Region. | Salles PF et al. | 2021 | Frontiers in pharmacology |
| 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 |
| 34621706 | Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform. | Kim B et al. | 2021 | Translational and clinical pharmacology |
| 34899282 | Preliminary Pharmacogenomic-Based Predictive Models of Tamoxifen Response in Hormone-dependent Chilean Breast Cancer Patients. | Miranda C et al. | 2021 | Frontiers in pharmacology |
| 34920277 | Assessment of susceptibility to phthalate and DINCH exposure through CYP and UGT single nucleotide polymorphisms. | Stajnko A et al. | 2022 | Environment international |
| 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 |
| 35126118 | Do Genetic Polymorphisms Affect Fetal Hemoglobin (HbF) Levels in Patients With Sickle Cell Anemia Treated With Hydroxyurea? A Systematic Review and Pathway Analysis. | Sales RR et al. | 2021 | Frontiers in pharmacology |
| 35286517 | Splice-disrupt genomic variants in prostate cancer. | Alanazi IO et al. | 2022 | Molecular biology reports |
| 35597526 | The potential impact of CYP2D6 (*2/*4/*10) gene variants among Egyptian epileptic children: A preliminary study. | Elsaid AM et al. | 2022 | Gene |
| 35990039 | CYP2D6 rs35742686 and rs3892097 Gene Polymorphisms and Childhood Acute Lymphoblastic Leukemia: Relation to Disease Susceptibility in Kashmiri Children. | Shapoo NS et al. | 2022 | Journal of pediatric genetics |
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
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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.