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.
rs16947
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr22:42127941 (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
-
A=0.385757 (102106/264690, TOPMED)A=0.32159 (13804/42924, ALFA)A=0.14628 (4121/28172, 14KJPN) (+ 2 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
-
CYP2D6 : Missense VariantLOC102723722 : 2KB Upstream Variant
- Publications
- 59 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 | 42924 | G=0.67841 | A=0.32159, T=0.00000 | 0.483925 | 0.127108 | 0.388967 | 32 |
| European | Sub | 33346 | G=0.68182 | A=0.31818, T=0.00000 | 0.485276 | 0.121634 | 0.393091 | 32 |
| African | Sub | 1904 | G=0.6602 | A=0.3398, T=0.0000 | 0.510504 | 0.190126 | 0.29937 | 32 |
| African Others | Sub | 60 | G=0.58 | A=0.42, T=0.00 | 0.466667 | 0.3 | 0.233333 | 5 |
| African American | Sub | 1844 | G=0.6627 | A=0.3373, T=0.0000 | 0.511931 | 0.186551 | 0.301518 | 32 |
| Asian | Sub | 142 | G=0.944 | A=0.056, T=0.000 | 0.901408 | 0.014085 | 0.084507 | 2 |
| East Asian | Sub | 90 | G=0.97 | A=0.03, T=0.00 | 0.933333 | 0.0 | 0.066667 | 0 |
| Other Asian | Sub | 52 | G=0.90 | A=0.10, T=0.00 | 0.846154 | 0.038462 | 0.115385 | 2 |
| Latin American 1 | Sub | 402 | G=0.677 | A=0.323, T=0.000 | 0.492537 | 0.139303 | 0.368159 | 3 |
| Latin American 2 | Sub | 330 | G=0.979 | A=0.021, T=0.000 | 0.963636 | 0.006061 | 0.030303 | 7 |
| South Asian | Sub | 36 | G=0.97 | A=0.03, T=0.00 | 0.944444 | 0.0 | 0.055556 | 0 |
| Other | Sub | 6764 | G=0.6450 | A=0.3550, T=0.0000 | 0.434654 | 0.144589 | 0.420757 | 12 |
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=0.614243 | A=0.385757 |
| Allele Frequency Aggregator | Total | Global | 42924 | G=0.67841 | A=0.32159, T=0.00000 |
| Allele Frequency Aggregator | European | Sub | 33346 | G=0.68182 | A=0.31818, T=0.00000 |
| Allele Frequency Aggregator | Other | Sub | 6764 | G=0.6450 | A=0.3550, T=0.0000 |
| Allele Frequency Aggregator | African | Sub | 1904 | G=0.6602 | A=0.3398, T=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 402 | G=0.677 | A=0.323, T=0.000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 330 | G=0.979 | A=0.021, T=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 142 | G=0.944 | A=0.056, T=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 36 | G=0.97 | A=0.03, T=0.00 |
| 14KJPN | JAPANESE | Study-wide | 28172 | G=0.85372 | A=0.14628 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.6324 | A=0.3676 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.4323 | A=0.5677 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.6619 | A=0.3381 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.6431 | A=0.3569 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.8650 | A=0.1350 |
| 1000Genomes_30x | American | Sub | 980 | G=0.668 | A=0.332 |
| PharmGKB Aggregated | Global | Study-wide | 356 | G=0.744 | A=0.256 |
| PharmGKB Aggregated | PA149586213 | Sub | 356 | G=0.744 | A=0.256 |
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.42127941G>A |
| GRCh38.p14 chr 22 | NC_000022.11:g.42127941G>C |
| GRCh38.p14 chr 22 | NC_000022.11:g.42127941G>T |
| gene/pseudogene RefSeqGene (LRG_303) | NG_008376.4:g.7870C>T |
| gene/pseudogene RefSeqGene (LRG_303) | NG_008376.4:g.7870C>G |
| gene/pseudogene RefSeqGene (LRG_303) | NG_008376.4:g.7870C>A |
| GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 | NW_015148968.1:g.5682G>A |
| GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 | NW_015148968.1:g.5682G>C |
| GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 | NW_015148968.1:g.5682G>T |
| GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 | NW_014040931.1:g.21530G>A |
| GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 | NW_014040931.1:g.21530G>C |
| GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 | NW_014040931.1:g.21530G>T |
| GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 | NW_009646208.1:g.13507G>A |
| GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 | NW_009646208.1:g.13507G>C |
| GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 | NW_009646208.1:g.13507G>T |
| GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 | NW_004504305.1:g.50268G>A |
| GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 | NW_004504305.1:g.50268G>C |
| GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 | NW_004504305.1:g.50268G>T |
| GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 | NT_187682.1:g.50282A>G |
| GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 | NT_187682.1:g.50282A>C |
| GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 | NT_187682.1:g.50282A>T |
| GRCh37.p13 chr 22 | NC_000022.10:g.42523943A>G |
| GRCh37.p13 chr 22 | NC_000022.10:g.42523943A>C |
| GRCh37.p13 chr 22 | NC_000022.10:g.42523943A>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.886C>T | R [CGC] > C [TGC] | Coding Sequence Variant |
| cytochrome P450 2D6 isoform 1 | NP_000097.3:p.Arg296Cys | R (Arg) > C (Cys) | Missense Variant |
| CYP2D6 transcript variant 1 | NM_000106.6:c.886C>G | R [CGC] > G [GGC] | Coding Sequence Variant |
| cytochrome P450 2D6 isoform 1 | NP_000097.3:p.Arg296Gly | R (Arg) > G (Gly) | Missense Variant |
| CYP2D6 transcript variant 1 | NM_000106.6:c.886C>A | R [CGC] > S [AGC] | Coding Sequence Variant |
| cytochrome P450 2D6 isoform 1 | NP_000097.3:p.Arg296Ser | R (Arg) > S (Ser) | Missense Variant |
| CYP2D6 transcript variant 2 | NM_001025161.3:c.733C>T | R [CGC] > C [TGC] | Coding Sequence Variant |
| cytochrome P450 2D6 isoform 2 | NP_001020332.2:p.Arg245Cys | R (Arg) > C (Cys) | Missense Variant |
| CYP2D6 transcript variant 2 | NM_001025161.3:c.733C>G | R [CGC] > G [GGC] | Coding Sequence Variant |
| cytochrome P450 2D6 isoform 2 | NP_001020332.2:p.Arg245Gly | R (Arg) > G (Gly) | Missense Variant |
| CYP2D6 transcript variant 2 | NM_001025161.3:c.733C>A | R [CGC] > S [AGC] | Coding Sequence Variant |
| cytochrome P450 2D6 isoform 2 | NP_001020332.2:p.Arg245Ser | R (Arg) > S (Ser) | 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: G= (allele ID:
508196
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000606529.1 | not specified | Likely-Benign |
| RCV001029620.2 | Tramadol response | Drug-Response |
Allele: A (allele ID:
31934
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000018391.28 | Debrisoquine, ultrarapid metabolism of | Drug-Response |
| RCV000616933.2 | not specified | Benign |
| RCV001030445.2 | Deutetrabenazine response | Drug-Response |
| RCV001093718.2 | 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 | G= | A | C | T |
|---|---|---|---|---|
| GRCh38.p14 chr 22 | NC_000022.11:g.42127941= | NC_000022.11:g.42127941G>A | NC_000022.11:g.42127941G>C | NC_000022.11:g.42127941G>T |
| gene/pseudogene RefSeqGene (LRG_303) | NG_008376.4:g.7870= | NG_008376.4:g.7870C>T | NG_008376.4:g.7870C>G | NG_008376.4:g.7870C>A |
| CYP2D6 transcript variant 1 | NM_000106.6:c.886= | NM_000106.6:c.886C>T | NM_000106.6:c.886C>G | NM_000106.6:c.886C>A |
| CYP2D6 transcript variant 1 | NM_000106.5:c.886= | NM_000106.5:c.886C>T | NM_000106.5:c.886C>G | NM_000106.5:c.886C>A |
| CYP2D6 transcript variant 2 | NM_001025161.3:c.733= | NM_001025161.3:c.733C>T | NM_001025161.3:c.733C>G | NM_001025161.3:c.733C>A |
| CYP2D6 transcript variant 2 | NM_001025161.2:c.733= | NM_001025161.2:c.733C>T | NM_001025161.2:c.733C>G | NM_001025161.2:c.733C>A |
| GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 | NW_015148968.1:g.5682= | NW_015148968.1:g.5682G>A | NW_015148968.1:g.5682G>C | NW_015148968.1:g.5682G>T |
| GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 | NW_014040931.1:g.21530= | NW_014040931.1:g.21530G>A | NW_014040931.1:g.21530G>C | NW_014040931.1:g.21530G>T |
| GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 | NW_009646208.1:g.13507= | NW_009646208.1:g.13507G>A | NW_009646208.1:g.13507G>C | NW_009646208.1:g.13507G>T |
| GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 | NW_004504305.1:g.50268= | NW_004504305.1:g.50268G>A | NW_004504305.1:g.50268G>C | NW_004504305.1:g.50268G>T |
| GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 | NT_187682.1:g.50282A>G | NT_187682.1:g.50282= | NT_187682.1:g.50282A>C | NT_187682.1:g.50282A>T |
| GRCh37.p13 chr 22 | NC_000022.10:g.42523943A>G | NC_000022.10:g.42523943= | NC_000022.10:g.42523943A>C | NC_000022.10:g.42523943A>T |
| cytochrome P450 2D6 isoform 1 | NP_000097.3:p.Arg296= | NP_000097.3:p.Arg296Cys | NP_000097.3:p.Arg296Gly | NP_000097.3:p.Arg296Ser |
| cytochrome P450 2D6 isoform 2 | NP_001020332.2:p.Arg245= | NP_001020332.2:p.Arg245Cys | NP_001020332.2:p.Arg245Gly | NP_001020332.2:p.Arg245Ser |
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#.
113 SubSNP,
9 Frequency,
6 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | WIAF | ss19354 | Sep 19, 2000 (60) |
| 2 | BIOVENTURES | ss32476058 | May 24, 2005 (125) |
| 3 | SSAHASNP | ss35079201 | May 24, 2005 (125) |
| 4 | HGSV | ss81058779 | Dec 14, 2007 (130) |
| 5 | HGSV | ss81587034 | Dec 14, 2007 (130) |
| 6 | PHARMGKB_AB_DME | ss84158093 | Dec 14, 2007 (130) |
| 7 | CORNELL | ss86247396 | Mar 23, 2008 (129) |
| 8 | BCMHGSC_JDW | ss91930844 | Mar 24, 2008 (129) |
| 9 | HUMANGENOME_JCVI | ss96102593 | Feb 04, 2009 (130) |
| 10 | BGI | ss103867161 | Feb 04, 2009 (130) |
| 11 | SNP500CANCER | ss105439394 | Feb 04, 2009 (130) |
| 12 | ILLUMINA-UK | ss117416815 | Feb 14, 2009 (130) |
| 13 | ENSEMBL | ss138360497 | Dec 01, 2009 (131) |
| 14 | ENSEMBL | ss144228562 | Dec 01, 2009 (131) |
| 15 | ILLUMINA | ss153582540 | Dec 01, 2009 (131) |
| 16 | GMI | ss157217237 | Dec 01, 2009 (131) |
| 17 | ILLUMINA | ss159299172 | Dec 01, 2009 (131) |
| 18 | SEATTLESEQ | ss159744644 | Dec 01, 2009 (131) |
| 19 | EGP_SNPS | ss159831313 | Dec 01, 2009 (131) |
| 20 | ILLUMINA | ss160401041 | Dec 01, 2009 (131) |
| 21 | OMICIA | ss169704408 | Feb 13, 2013 (137) |
| 22 | ILLUMINA | ss172674118 | Jul 04, 2010 (132) |
| 23 | BUSHMAN | ss204099753 | Jul 04, 2010 (132) |
| 24 | BCM-HGSC-SUB | ss208846600 | Jul 04, 2010 (132) |
| 25 | 1000GENOMES | ss212125225 | Jul 14, 2010 (132) |
| 26 | 1000GENOMES | ss228698353 | Jul 14, 2010 (132) |
| 27 | 1000GENOMES | ss238081964 | Jul 15, 2010 (132) |
| 28 | GMI | ss283649245 | May 04, 2012 (137) |
| 29 | GMI | ss287575147 | Apr 25, 2013 (138) |
| 30 | PJP | ss292767919 | May 09, 2011 (134) |
| 31 | NHLBI-ESP | ss342544617 | May 09, 2011 (134) |
| 32 | ILLUMINA | ss480821083 | Sep 08, 2015 (146) |
| 33 | 1000GENOMES | ss491194346 | May 04, 2012 (137) |
| 34 | EXOME_CHIP | ss491572610 | May 04, 2012 (137) |
| 35 | CLINSEQ_SNP | ss491825727 | May 04, 2012 (137) |
| 36 | NCBI-CURATED-RECORDS | ss537713094 | Jan 04, 2013 (137) |
| 37 | TISHKOFF | ss566667068 | Apr 25, 2013 (138) |
| 38 | SSMP | ss662596356 | Apr 25, 2013 (138) |
| 39 | ILLUMINA | ss832811259 | Aug 21, 2014 (142) |
| 40 | ILLUMINA | ss833402089 | Aug 21, 2014 (142) |
| 41 | EVA-GONL | ss995393791 | Aug 21, 2014 (142) |
| 42 | JMKIDD_LAB | ss1067607076 | Aug 21, 2014 (142) |
| 43 | JMKIDD_LAB | ss1082687831 | Aug 21, 2014 (142) |
| 44 | 1000GENOMES | ss1367336070 | Aug 21, 2014 (142) |
| 45 | DDI | ss1429268123 | Apr 01, 2015 (144) |
| 46 | EVA_UK10K_ALSPAC | ss1640083670 | Apr 01, 2015 (144) |
| 47 | EVA_UK10K_TWINSUK | ss1683077703 | Apr 01, 2015 (144) |
| 48 | EVA_EXAC | ss1694379158 | Apr 01, 2015 (144) |
| 49 | EVA_DECODE | ss1699465064 | Apr 01, 2015 (144) |
| 50 | EVA_MGP | ss1711571573 | Apr 01, 2015 (144) |
| 51 | HAMMER_LAB | ss1809806575 | Sep 08, 2015 (146) |
| 52 | WEILL_CORNELL_DGM | ss1938961271 | Feb 12, 2016 (147) |
| 53 | ILLUMINA | ss1959984040 | Feb 12, 2016 (147) |
| 54 | GENOMED | ss1969279595 | Jul 19, 2016 (147) |
| 55 | JJLAB | ss2030253486 | Sep 14, 2016 (149) |
| 56 | ILLUMINA | ss2094811396 | Dec 20, 2016 (150) |
| 57 | USC_VALOUEV | ss2158873704 | Dec 20, 2016 (150) |
| 58 | SYSTEMSBIOZJU | ss2629622768 | Nov 08, 2017 (151) |
| 59 | ILLUMINA | ss2635112630 | Nov 08, 2017 (151) |
| 60 | GRF | ss2704626587 | Nov 08, 2017 (151) |
| 61 | GNOMAD | ss2745191519 | Nov 08, 2017 (151) |
| 62 | GNOMAD | ss2750571610 | Nov 08, 2017 (151) |
| 63 | AFFY | ss2985857661 | Nov 08, 2017 (151) |
| 64 | SWEGEN | ss3019375492 | Nov 08, 2017 (151) |
| 65 | ILLUMINA | ss3022190893 | Nov 08, 2017 (151) |
| 66 | BIOINF_KMB_FNS_UNIBA | ss3028962578 | Nov 08, 2017 (151) |
| 67 | CSIRBIOHTS | ss3029638768 | Nov 08, 2017 (151) |
| 68 | CSHL | ss3352855492 | Nov 08, 2017 (151) |
| 69 | ILLUMINA | ss3636565845 | Oct 12, 2018 (152) |
| 70 | ILLUMINA | ss3638385693 | Oct 12, 2018 (152) |
| 71 | OMUKHERJEE_ADBS | ss3646568218 | Oct 12, 2018 (152) |
| 72 | ILLUMINA | ss3652655245 | Oct 12, 2018 (152) |
| 73 | EVA_DECODE | ss3708287342 | Jul 13, 2019 (153) |
| 74 | ACPOP | ss3743969260 | Jul 13, 2019 (153) |
| 75 | EVA | ss3759434295 | Jul 13, 2019 (153) |
| 76 | PACBIO | ss3788837914 | Jul 13, 2019 (153) |
| 77 | PACBIO | ss3793701136 | Jul 13, 2019 (153) |
| 78 | PACBIO | ss3798587618 | Jul 13, 2019 (153) |
| 79 | EVA | ss3825454805 | Apr 27, 2020 (154) |
| 80 | EVA | ss3825972710 | Apr 27, 2020 (154) |
| 81 | EVA | ss3836012229 | Apr 27, 2020 (154) |
| 82 | EVA | ss3841634481 | Apr 27, 2020 (154) |
| 83 | SGDP_PRJ | ss3890637649 | Apr 27, 2020 (154) |
| 84 | KRGDB | ss3941034960 | Apr 27, 2020 (154) |
| 85 | FSA-LAB | ss3984237312 | Apr 26, 2021 (155) |
| 86 | EVA | ss3986088128 | Apr 26, 2021 (155) |
| 87 | EVA | ss3986866443 | Apr 26, 2021 (155) |
| 88 | VINODS | ss4034712628 | Apr 26, 2021 (155) |
| 89 | VINODS | ss4034758251 | Apr 26, 2021 (155) |
| 90 | TOPMED | ss5110780181 | Apr 26, 2021 (155) |
| 91 | TOMMO_GENOMICS | ss5232837061 | Apr 26, 2021 (155) |
| 92 | EVA | ss5236992021 | Apr 26, 2021 (155) |
| 93 | EVA | ss5237676613 | Oct 16, 2022 (156) |
| 94 | 1000G_HIGH_COVERAGE | ss5311255580 | Oct 16, 2022 (156) |
| 95 | EVA | ss5441587499 | Oct 16, 2022 (156) |
| 96 | HUGCELL_USP | ss5503082648 | Oct 16, 2022 (156) |
| 97 | EVA | ss5512474001 | Oct 16, 2022 (156) |
| 98 | EVA | ss5512474002 | Oct 16, 2022 (156) |
| 99 | 1000G_HIGH_COVERAGE | ss5618884714 | Oct 16, 2022 (156) |
| 100 | EVA | ss5623984013 | Oct 16, 2022 (156) |
| 101 | EVA | ss5624123268 | Oct 16, 2022 (156) |
| 102 | SANFORD_IMAGENETICS | ss5664576678 | Oct 16, 2022 (156) |
| 103 | TOMMO_GENOMICS | ss5794029029 | Oct 16, 2022 (156) |
| 104 | EVA | ss5799405033 | Oct 16, 2022 (156) |
| 105 | YY_MCH | ss5818748090 | Oct 16, 2022 (156) |
| 106 | EVA | ss5822131214 | Oct 16, 2022 (156) |
| 107 | EVA | ss5848570300 | Oct 16, 2022 (156) |
| 108 | EVA | ss5853409968 | Oct 16, 2022 (156) |
| 109 | EVA | ss5936464562 | Oct 16, 2022 (156) |
| 110 | EVA | ss5936580633 | Oct 16, 2022 (156) |
| 111 | EVA | ss5959434895 | Oct 16, 2022 (156) |
| 112 | EVA | ss5979638957 | Oct 16, 2022 (156) |
| 113 | EVA | ss5981139000 | Oct 16, 2022 (156) |
| 114 | 1000Genomes_30x | NC_000022.11 - 42127941 | Oct 16, 2022 (156) |
| 115 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 116 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 117 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 118 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 119 | PharmGKB Aggregated | NC_000022.11 - 42127941 | Apr 27, 2020 (154) |
| 120 | 14KJPN | NC_000022.11 - 42127941 | Oct 16, 2022 (156) |
| 121 | TopMed | NC_000022.11 - 42127941 | Apr 26, 2021 (155) |
| 122 | ALFA | NC_000022.11 - 42127941 | Apr 26, 2021 (155) |
| 123 | ClinVar | RCV000018391.28 | Oct 16, 2022 (156) |
| 124 | ClinVar | RCV000606529.1 | Oct 12, 2018 (152) |
| 125 | ClinVar | RCV000616933.2 | Oct 16, 2022 (156) |
| 126 | ClinVar | RCV001029620.2 | Oct 16, 2022 (156) |
| 127 | ClinVar | RCV001030445.2 | Oct 16, 2022 (156) |
| 128 | ClinVar | RCV001093718.2 | 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) |
|---|---|
| rs57836231 | May 24, 2008 (130) |
| rs117039205 | Aug 16, 2010 (132) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss35079201, ss81058779, ss81587034 | NC_000022.8:40848440:A:A | NC_000022.11:42127940:G:A | (self) |
| ss91930844, ss117416815, ss160401041, ss204099753, ss208846600, ss212125225, ss283649245, ss287575147, ss292767919, ss491825727, ss1699465064, ss2635112630 | NC_000022.9:40853886:A:A | NC_000022.11:42127940:G:A | (self) |
| ss228698353, ss238081964, ss342544617, ss480821083, ss491194346, ss491572610, ss566667068, ss662596356, ss832811259, ss833402089, ss995393791, ss1067607076, ss1082687831, ss1367336070, ss1429268123, ss1640083670, ss1683077703, ss1694379158, ss1711571573, ss1809806575, ss1938961271, ss1959984040, ss1969279595, ss2030253486, ss2094811396, ss2158873704, ss2629622768, ss2704626587, ss2745191519, ss2750571610, ss2985857661, ss3019375492, ss3022190893, ss3029638768, ss3352855492, ss3636565845, ss3638385693, ss3646568218, ss3652655245, ss3743969260, ss3759434295, ss3788837914, ss3793701136, ss3798587618, ss3825454805, ss3825972710, ss3836012229, ss3841634481, ss3890637649, ss3941034960, ss3984237312, ss3986088128, ss3986866443, ss5232837061, ss5441587499, ss5512474001, ss5512474002, ss5623984013, ss5624123268, ss5664576678, ss5799405033, ss5822131214, ss5848570300, ss5936464562, ss5936580633, ss5959434895, ss5979638957, ss5981139000 | NC_000022.10:42523942:A:A | NC_000022.11:42127940:G:A | (self) |
| RCV000018391.28, RCV000616933.2, RCV001030445.2, RCV001093718.2, 106410649, 7682, 127866133, 385889128, 7618235871, ss169704408, ss537713094, ss3028962578, ss3708287342, ss5110780181, ss5236992021, ss5237676613, ss5311255580, ss5503082648, ss5618884714, ss5794029029, ss5818748090, ss5853409968 | NC_000022.11:42127940:G:A | NC_000022.11:42127940:G:A | (self) |
| ss19354, ss32476058, ss84158093, ss86247396, ss96102593, ss103867161, ss105439394, ss138360497, ss144228562, ss153582540, ss157217237, ss159299172, ss159744644, ss159831313, ss172674118 | NT_011520.12:21914511:A:A | NC_000022.11:42127940:G:A | (self) |
| ss4034758251 | NT_187682.1:50281:A:A | NC_000022.11:42127940:G:A | (self) |
| ss4034712628 | NW_004504305.1:50267:G:A | NC_000022.11:42127940:G:A | (self) |
| ss5512474002 | NC_000022.10:42523942:A:C | NC_000022.11:42127940:G:C | |
| ss2745191519, ss5512474001, ss5512474002 | NC_000022.10:42523942:A:T | NC_000022.11:42127940:G:T | (self) |
| 7618235871 | NC_000022.11:42127940:G:T | NC_000022.11:42127940: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.
59
citations for rs16947
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 7903454 | Inherited amplification of an active gene in the cytochrome P450 CYP2D locus as a cause of ultrarapid metabolism of debrisoquine. | Johansson I et al. | 1993 | Proceedings of the National Academy of Sciences of the United States of America |
| 7927337 | DNA haplotype-dependent differences in the amino acid sequence of debrisoquine 4-hydroxylase (CYP2D6): evidence for two major allozymes in extensive metabolisers. | Panserat S et al. | 1994 | Human genetics |
| 18547414 | Genotyping panel for assessing response to cancer chemotherapy. | Dai Z et al. | 2008 | BMC medical genomics |
| 18698231 | Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues. | Johnson AD et al. | 2008 | Pharmacogenetics and genomics |
| 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 |
| 21071160 | Analysis of 50 SNPs in CYP2D6, CYP2C19, CYP2C9, CYP3A4 and CYP1A2 by MALDI-TOF mass spectrometry in Chinese Han population. | Shi Y et al. | 2011 | Forensic science international |
| 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 |
| 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 |
| 22482072 | Genomics of Dementia: APOE- and CYP2D6-Related Pharmacogenetics. | Cacabelos R et al. | 2012 | International journal of Alzheimer's disease |
| 22552919 | Bioinformatics and variability in drug response: a protein structural perspective. | Lahti JL et al. | 2012 | Journal of the Royal Society, Interface |
| 22688145 | Clinical response and side effects of metoclopramide: associations with clinical, demographic, and pharmacogenetic parameters. | Parkman HP et al. | 2012 | Journal of clinical gastroenterology |
| 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 |
| 23207012 | Reduced CYP2D6 function is associated with gefitinib-induced rash in patients with non-small cell lung cancer. | Suzumura T et al. | 2012 | BMC cancer |
| 23985325 | Common CYP2D6 polymorphisms affecting alternative splicing and transcription: long-range haplotypes with two regulatory variants modulate CYP2D6 activity. | Wang D et al. | 2014 | Human molecular genetics |
| 24798984 | Developing and Evaluating the HRM Technique for Identifying Cytochrome P450 2D6 Polymorphisms. | Lu HC et al. | 2015 | Journal of clinical laboratory analysis |
| 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 |
| 25266489 | Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China. | Zhang J et al. | 2014 | BMC genetics |
| 25419701 | Exploring the distribution of genetic markers of pharmacogenomics relevance in Brazilian and Mexican populations. | Bonifaz-Peña V et al. | 2014 | PloS one |
| 26091847 | Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China. | Wang L et al. | 2015 | BMC genetics |
| 26369774 | Impact of New Genomic Technologies on Understanding Adverse Drug Reactions. | Maggo SD et al. | 2016 | Clinical pharmacokinetics |
| 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 |
| 27108086 | Multiplex SNaPshot-a new simple and efficient CYP2D6 and ADRB1 genotyping method. | Ben S et al. | 2016 | Human genomics |
| 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 |
| 27540311 | Prevalence of CYP2D6*2, CYP2D6*4, CYP2D6*10, and CYP3A5*3 in Thai breast cancer patients undergoing tamoxifen treatment. | Charoenchokthavee W et al. | 2016 | Breast cancer (Dove Medical Press) |
| 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 |
| 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 |
| 28603633 | In vitro metabolism of exemestane by hepatic cytochrome P450s: impact of nonsynonymous polymorphisms on formation of the active metabolite 17β-dihydroexemestane. | Peterson A et al. | 2017 | Pharmacology research & perspectives |
| 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 |
| 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 |
| 30093869 | Biological Predictors of Clozapine Response: A Systematic Review. | Samanaite R et al. | 2018 | Frontiers in psychiatry |
| 30360443 | Genetic Polymorphisms and In Silico Mutagenesis Analyses of CYP2C9, CYP2D6, and CYPOR Genes in the Pakistani Population. | Ahmed S et al. | 2018 | Genes |
| 30520769 | CYP2D6 haplotypes with enhancer single-nucleotide polymorphism rs5758550 and rs16947 (*2 allele): implications for CYP2D6 genotyping panels. | Ray B et al. | 2019 | Pharmacogenetics and genomics |
| 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 |
| 32047265 | Variations and expression features of CYP2D6 contribute to schizophrenia risk. | Ma L et al. | 2021 | Molecular psychiatry |
| 32187157 | Distribution and linkage disequilibrium of the enhancer SNP rs5758550 among Latin American populations: influence of continental ancestry. | Elias ABR et al. | 2020 | Pharmacogenetics and genomics |
| 32639515 | Bayesian Pathway Analysis for Complex Interactions. | Baurley JW et al. | 2020 | American journal of epidemiology |
| 33519226 | Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon. | Fernandes MR et al. | 2021 | Pharmacogenomics and personalized medicine |
| 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 |
| 34115022 | Associations and interaction effects of maternal smoking and genetic polymorphisms of cytochrome P450 genes with risk of congenital heart disease in offspring: A case-control study. | Diao J et al. | 2021 | Medicine |
| 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 |
| 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 |
| 34621706 | Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform. | Kim B et al. | 2021 | Translational and clinical pharmacology |
| 34823523 | Prediction of the CYP2D6 enzymatic activity based on investigating of the CYP2D6 genotypes around the vivax malaria patients in Yunnan Province, China. | Dong Y et al. | 2021 | Malaria journal |
| 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 |
| 35078561 | Association between Maternal Drug Use and Cytochrome P450 Genetic Polymorphisms and the Risk of Congenital Heart Defects in Offspring. | Qin JB et al. | 2022 | Biomedical and environmental sciences |
| 35401003 | CYP2D6 Gene Polymorphisms and Variable Metabolic Activity in Schizophrenia Patients of Han and Tibetan Populations. | Li YH et al. | 2022 | Neuropsychiatric disease and treatment |
| 35597526 | The potential impact of CYP2D6 (*2/*4/*10) gene variants among Egyptian epileptic children: A preliminary study. | Elsaid AM et al. | 2022 | Gene |
| 36013302 | From Croatian Roma to 1000 Genomes: The Story of the CYP2D6 Gene Promoter and Enhancer SNPs. | Stojanović Marković A et al. | 2022 | Journal of personalized medicine |
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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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.