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.
rs3918290
Current Build 157
Released September 3, 2024
- Organism
- Homo sapiens
- Position
-
chr1:97450058 (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=0.004239 (1384/326508, ALFA)T=0.004596 (686/149250, GnomAD_genomes)T=0.00103 (81/78700, PAGE_STUDY) (+ 12 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- DPYD : Splice Donor Variant
- Publications
- 125 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 | 326508 | C=0.995761 | G=0.000000, T=0.004239 | 0.991559 | 3.7e-05 | 0.008404 | 2 |
| European | Sub | 282358 | C=0.995453 | G=0.000000, T=0.004547 | 0.990941 | 0.000035 | 0.009024 | 1 |
| African | Sub | 13264 | C=0.99940 | G=0.00000, T=0.00060 | 0.998794 | 0.0 | 0.001206 | 0 |
| African Others | Sub | 506 | C=1.000 | G=0.000, T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 12758 | C=0.99937 | G=0.00000, T=0.00063 | 0.998746 | 0.0 | 0.001254 | 0 |
| Asian | Sub | 3982 | C=1.0000 | G=0.0000, T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 3180 | C=1.0000 | G=0.0000, T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 802 | C=1.000 | G=0.000, T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 1414 | C=0.9986 | G=0.0000, T=0.0014 | 0.997171 | 0.0 | 0.002829 | 0 |
| Latin American 2 | Sub | 3120 | C=0.9987 | G=0.0000, T=0.0013 | 0.997436 | 0.0 | 0.002564 | 0 |
| South Asian | Sub | 5218 | C=0.9966 | G=0.0000, T=0.0034 | 0.993101 | 0.0 | 0.006899 | 0 |
| Other | Sub | 17152 | C=0.99604 | G=0.00000, T=0.00396 | 0.992188 | 0.000117 | 0.007696 | 4 |
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 |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 326508 | C=0.995761 | G=0.000000, T=0.004239 |
| Allele Frequency Aggregator | European | Sub | 282358 | C=0.995453 | G=0.000000, T=0.004547 |
| Allele Frequency Aggregator | Other | Sub | 17152 | C=0.99604 | G=0.00000, T=0.00396 |
| Allele Frequency Aggregator | African | Sub | 13264 | C=0.99940 | G=0.00000, T=0.00060 |
| Allele Frequency Aggregator | South Asian | Sub | 5218 | C=0.9966 | G=0.0000, T=0.0034 |
| Allele Frequency Aggregator | Asian | Sub | 3982 | C=1.0000 | G=0.0000, T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 3120 | C=0.9987 | G=0.0000, T=0.0013 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1414 | C=0.9986 | G=0.0000, T=0.0014 |
| gnomAD v4 - Genomes | Global | Study-wide | 149250 | C=0.995404 | T=0.004596 |
| gnomAD v4 - Genomes | European | Sub | 78644 | C=0.99240 | T=0.00760 |
| gnomAD v4 - Genomes | African | Sub | 41548 | C=0.99942 | T=0.00058 |
| gnomAD v4 - Genomes | American | Sub | 15278 | C=0.99830 | T=0.00170 |
| gnomAD v4 - Genomes | East Asian | Sub | 5188 | C=1.0000 | T=0.0000 |
| gnomAD v4 - Genomes | South Asian | Sub | 4826 | C=0.9971 | T=0.0029 |
| gnomAD v4 - Genomes | Ashkenazi Jewish | Sub | 3472 | C=0.9931 | T=0.0069 |
| gnomAD v4 - Genomes | Middle Eastern | sub | 294 | C=1.000 | T=0.000 |
| The PAGE Study | Global | Study-wide | 78700 | C=0.99897 | T=0.00103 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | C=0.99908 | T=0.00092 |
| The PAGE Study | Mexican | Sub | 10810 | C=0.99898 | T=0.00102 |
| The PAGE Study | Asian | Sub | 8318 | C=1.0000 | T=0.0000 |
| The PAGE Study | PuertoRican | Sub | 7918 | C=0.9996 | T=0.0004 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.9987 | T=0.0013 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.9960 | T=0.0040 |
| The PAGE Study | Dominican | Sub | 3826 | C=0.9997 | T=0.0003 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.9992 | T=0.0008 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.9995 | T=0.0005 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.9960 | T=0.0040 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.994 | T=0.006 |
| 38KJPN | JAPANESE | Study-wide | 77412 | C=0.99992 | T=0.00008 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | C=0.99585 | T=0.00415 |
| GO Exome Sequencing Project | European American | Sub | 8600 | C=0.9942 | T=0.0058 |
| GO Exome Sequencing Project | African American | Sub | 4406 | C=0.9991 | T=0.0009 |
| 1000Genomes_30X | Global | Study-wide | 6404 | C=0.9973 | T=0.0027 |
| 1000Genomes_30X | African | Sub | 1786 | C=0.9994 | T=0.0006 |
| 1000Genomes_30X | Europe | Sub | 1266 | C=0.9953 | T=0.0047 |
| 1000Genomes_30X | South Asian | Sub | 1202 | C=0.9925 | T=0.0075 |
| 1000Genomes_30X | East Asian | Sub | 1170 | C=1.0000 | T=0.0000 |
| 1000Genomes_30X | American | Sub | 980 | C=0.999 | T=0.001 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.9970 | T=0.0030 |
| 1000Genomes | African | Sub | 1322 | C=0.9992 | T=0.0008 |
| 1000Genomes | East Asian | Sub | 1008 | C=1.0000 | T=0.0000 |
| 1000Genomes | Europe | Sub | 1006 | C=0.9950 | T=0.0050 |
| 1000Genomes | South Asian | Sub | 978 | C=0.992 | T=0.008 |
| 1000Genomes | American | Sub | 694 | C=0.999 | T=0.001 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.9904 | T=0.0096 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.9948 | T=0.0052 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.9957 | T=0.0043 |
| MxGDAR/Encodat-PGx | Global | Study-wide | 3270 | C=0.9969 | T=0.0031 |
| MxGDAR/Encodat-PGx | MxGDAR | Sub | 3270 | C=0.9969 | T=0.0031 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.993 | T=0.007 |
| HapMap | Global | Study-wide | 886 | C=0.993 | T=0.007 |
| HapMap | American | Sub | 500 | C=0.990 | T=0.010 |
| HapMap | Europe | Sub | 176 | C=0.994 | T=0.006 |
| HapMap | African | Sub | 120 | C=1.000 | T=0.000 |
| HapMap | Asian | Sub | 90 | C=1.00 | T=0.00 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.985 | T=0.015 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | C=0.987 | T=0.013 |
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 1 | NC_000001.11:g.97450058C>A |
| GRCh38.p14 chr 1 | NC_000001.11:g.97450058C>G |
| GRCh38.p14 chr 1 | NC_000001.11:g.97450058C>T |
| GRCh37.p13 chr 1 | NC_000001.10:g.97915614C>A |
| GRCh37.p13 chr 1 | NC_000001.10:g.97915614C>G |
| GRCh37.p13 chr 1 | NC_000001.10:g.97915614C>T |
| DPYD RefSeqGene (LRG_722) | NG_008807.2:g.476002G>T |
| DPYD RefSeqGene (LRG_722) | NG_008807.2:g.476002G>C |
| DPYD RefSeqGene (LRG_722) | NG_008807.2:g.476002G>A |
Gene: DPYD, dihydropyrimidine dehydrogenase
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| DPYD transcript variant 1 | NM_000110.4:c. | N/A | Splice Donor Variant |
| DPYD transcript variant 2 | NM_001160301.1:c. | N/A | Genic Downstream Transcript Variant |
| DPYD transcript variant X2 | XM_005270562.3:c. | N/A | Splice Donor Variant |
| DPYD transcript variant X5 | XM_006710397.4:c. | N/A | Splice Donor Variant |
| DPYD transcript variant X1 | XM_017000507.2:c. | N/A | Splice Donor Variant |
| DPYD transcript variant X3 | XM_047448076.1:c. | N/A | Splice Donor Variant |
| DPYD transcript variant X4 | XM_047448077.1:c. | N/A | Splice Donor Variant |
| DPYD transcript variant X6 | XR_001737014.2:n. | N/A | Genic Downstream Transcript 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:
362495
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV003123363.5 | Dihydropyrimidine dehydrogenase deficiency | Likely-Pathogenic |
| RCV003222484.1 | not provided | Pathogenic |
Allele: T (allele ID:
15471
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000000460.29 | Dihydropyrimidine dehydrogenase deficiency | Pathogenic-Likely-Pathogenic |
| RCV000030868.15 | Fluorouracil response | Pathogenic |
| RCV000086468.39 | not provided | Pathogenic |
| RCV000201291.10 | Hirschsprung disease, susceptibility to, 1 | Uncertain-Significance |
| RCV000735355.10 | 2-3 toe syndactyly,Abnormal aggressive, impulsive or violent behavior,Aggressive behavior,Autism,Bulbous nose,Clinodactyly of the 5th toe,Coarse facial features,Cognitive impairment,Frontal bossing,Global developmental delay,Hallux valgus,Intellectual disability,Intellectual disability, profound,Macroglossia,Mandibular prognathia,Profound global developmental delay,Seizure,Short toe,Shortening of all phalanges of fingers,Slit-like opening of the exterior auditory meatus,Thick lower lip vermilion,Widely spaced teeth | Pathogenic |
| RCV001787337.10 | fluorouracil response - Toxicity | Drug-Response |
| RCV001787359.9 | fluorouracil response - Other | Drug-Response |
| RCV001787360.10 | capecitabine response - Toxicity | Drug-Response |
| RCV001787361.10 | tegafur response - Toxicity | Drug-Response |
| RCV004018525.1 | Inborn genetic diseases | Pathogenic |
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 1 | NC_000001.11:g.97450058= | NC_000001.11:g.97450058C>A | NC_000001.11:g.97450058C>G | NC_000001.11:g.97450058C>T |
| GRCh37.p13 chr 1 | NC_000001.10:g.97915614= | NC_000001.10:g.97915614C>A | NC_000001.10:g.97915614C>G | NC_000001.10:g.97915614C>T |
| DPYD RefSeqGene (LRG_722) | NG_008807.2:g.476002= | NG_008807.2:g.476002G>T | NG_008807.2:g.476002G>C | NG_008807.2:g.476002G>A |
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#.
110 SubSNP,
22 Frequency,
12 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | IPCDG | ss5112515 | Oct 10, 2002 (108) |
| 2 | ILLUMINA | ss75254197 | Dec 07, 2007 (129) |
| 3 | CANCER-GENOME | ss86349232 | Mar 23, 2008 (129) |
| 4 | KRIBB_YJKIM | ss119468680 | Dec 01, 2009 (131) |
| 5 | ILLUMINA | ss154278002 | Dec 01, 2009 (131) |
| 6 | ILLUMINA | ss159454640 | Dec 01, 2009 (131) |
| 7 | ILLUMINA | ss160655048 | Dec 01, 2009 (131) |
| 8 | ILLUMINA | ss173673166 | Jul 04, 2010 (132) |
| 9 | 1000GENOMES | ss328797404 | May 09, 2011 (134) |
| 10 | NHLBI-ESP | ss341976634 | May 09, 2011 (134) |
| 11 | ILLUMINA | ss480874127 | May 04, 2012 (137) |
| 12 | ILLUMINA | ss480892773 | May 04, 2012 (137) |
| 13 | ILLUMINA | ss481834845 | Sep 08, 2015 (146) |
| 14 | ILLUMINA | ss485232141 | May 04, 2012 (137) |
| 15 | 1000GENOMES | ss489753562 | May 04, 2012 (137) |
| 16 | EXOME_CHIP | ss491297111 | May 04, 2012 (137) |
| 17 | CLINSEQ_SNP | ss491598676 | May 04, 2012 (137) |
| 18 | ILLUMINA | ss537208857 | Sep 08, 2015 (146) |
| 19 | ILLUMINA | ss778528454 | Aug 21, 2014 (142) |
| 20 | ILLUMINA | ss780879252 | Sep 08, 2015 (146) |
| 21 | ILLUMINA | ss783062007 | Aug 21, 2014 (142) |
| 22 | ILLUMINA | ss783564844 | Sep 08, 2015 (146) |
| 23 | ILLUMINA | ss784020077 | Aug 21, 2014 (142) |
| 24 | ILLUMINA | ss832319990 | Apr 01, 2015 (144) |
| 25 | ILLUMINA | ss832966167 | Aug 21, 2014 (142) |
| 26 | ILLUMINA | ss833556996 | Aug 21, 2014 (142) |
| 27 | ILLUMINA | ss833984957 | Aug 21, 2014 (142) |
| 28 | EVA-GONL | ss975467232 | Aug 21, 2014 (142) |
| 29 | 1000GENOMES | ss1292048891 | Aug 21, 2014 (142) |
| 30 | EVA_FINRISK | ss1584009479 | Apr 01, 2015 (144) |
| 31 | EVA_DECODE | ss1584844705 | Apr 01, 2015 (144) |
| 32 | EVA_UK10K_ALSPAC | ss1600785127 | Apr 01, 2015 (144) |
| 33 | EVA_UK10K_TWINSUK | ss1643779160 | Apr 01, 2015 (144) |
| 34 | EVA_EXAC | ss1685649939 | Apr 01, 2015 (144) |
| 35 | EVA_EXAC | ss1685649940 | Apr 01, 2015 (144) |
| 36 | EVA_SVP | ss1712356051 | Apr 01, 2015 (144) |
| 37 | ILLUMINA | ss1751941055 | Sep 08, 2015 (146) |
| 38 | ILLUMINA | ss1751941056 | Sep 08, 2015 (146) |
| 39 | ILLUMINA | ss1917731608 | Feb 12, 2016 (147) |
| 40 | ILLUMINA | ss1946002589 | Feb 12, 2016 (147) |
| 41 | ILLUMINA | ss1958295991 | Feb 12, 2016 (147) |
| 42 | HUMAN_LONGEVITY | ss2164903312 | Dec 20, 2016 (150) |
| 43 | ILLUMINA | ss2632551820 | Nov 08, 2017 (151) |
| 44 | ILLUMINA | ss2635001389 | Nov 08, 2017 (151) |
| 45 | ILLUMINA | ss2710678030 | Nov 08, 2017 (151) |
| 46 | GNOMAD | ss2731656940 | Nov 08, 2017 (151) |
| 47 | GNOMAD | ss2746378451 | Nov 08, 2017 (151) |
| 48 | GNOMAD | ss2758467646 | Nov 08, 2017 (151) |
| 49 | AFFY | ss2984868244 | Nov 08, 2017 (151) |
| 50 | AFFY | ss2985519675 | Nov 08, 2017 (151) |
| 51 | SWEGEN | ss2987282421 | Nov 08, 2017 (151) |
| 52 | ILLUMINA | ss3626162104 | Oct 11, 2018 (152) |
| 53 | ILLUMINA | ss3626162105 | Oct 11, 2018 (152) |
| 54 | ILLUMINA | ss3630586078 | Oct 11, 2018 (152) |
| 55 | ILLUMINA | ss3632902567 | Oct 11, 2018 (152) |
| 56 | ILLUMINA | ss3633597547 | Oct 11, 2018 (152) |
| 57 | ILLUMINA | ss3634338486 | Oct 11, 2018 (152) |
| 58 | ILLUMINA | ss3634338487 | Oct 11, 2018 (152) |
| 59 | ILLUMINA | ss3635291178 | Oct 11, 2018 (152) |
| 60 | ILLUMINA | ss3636015922 | Oct 11, 2018 (152) |
| 61 | ILLUMINA | ss3637041631 | Oct 11, 2018 (152) |
| 62 | ILLUMINA | ss3637774465 | Oct 11, 2018 (152) |
| 63 | ILLUMINA | ss3640045846 | Oct 11, 2018 (152) |
| 64 | ILLUMINA | ss3640045847 | Oct 11, 2018 (152) |
| 65 | ILLUMINA | ss3642784721 | Oct 11, 2018 (152) |
| 66 | ILLUMINA | ss3644498548 | Oct 11, 2018 (152) |
| 67 | ILLUMINA | ss3653640121 | Oct 11, 2018 (152) |
| 68 | EGCUT_WGS | ss3655365196 | Jul 12, 2019 (153) |
| 69 | EVA_DECODE | ss3687339041 | Jul 12, 2019 (153) |
| 70 | ACPOP | ss3727301195 | Jul 12, 2019 (153) |
| 71 | ILLUMINA | ss3744348634 | Jul 12, 2019 (153) |
| 72 | ILLUMINA | ss3744639459 | Jul 12, 2019 (153) |
| 73 | ILLUMINA | ss3744639460 | Jul 12, 2019 (153) |
| 74 | PAGE_CC | ss3770827349 | Jul 12, 2019 (153) |
| 75 | ILLUMINA | ss3772140698 | Jul 12, 2019 (153) |
| 76 | ILLUMINA | ss3772140699 | Jul 12, 2019 (153) |
| 77 | KHV_HUMAN_GENOMES | ss3799558366 | Jul 12, 2019 (153) |
| 78 | EVA | ss3823633508 | Apr 25, 2020 (154) |
| 79 | EVA | ss3825570036 | Apr 25, 2020 (154) |
| 80 | EVA | ss3984447079 | Apr 25, 2021 (155) |
| 81 | EVA | ss3986128436 | Apr 25, 2021 (155) |
| 82 | TOPMED | ss4460150784 | Apr 25, 2021 (155) |
| 83 | TOPMED | ss4460150785 | Apr 25, 2021 (155) |
| 84 | EVA | ss6208437353 | Nov 02, 2024 (157) |
| 85 | EVA | ss6284040620 | Nov 02, 2024 (157) |
| 86 | EVA | ss6322091886 | Nov 02, 2024 (157) |
| 87 | EVA | ss6349481078 | Nov 02, 2024 (157) |
| 88 | GNOMAD | ss6407779497 | Nov 02, 2024 (157) |
| 89 | GNOMAD | ss6407779498 | Nov 02, 2024 (157) |
| 90 | GNOMAD | ss6407779499 | Nov 02, 2024 (157) |
| 91 | GNOMAD | ss6494931708 | Nov 02, 2024 (157) |
| 92 | EVA | ss8237162779 | Nov 02, 2024 (157) |
| 93 | EVA | ss8237632434 | Nov 02, 2024 (157) |
| 94 | 1000G_HIGH_COVERAGE | ss8243272150 | Nov 02, 2024 (157) |
| 95 | HUGCELL_USP | ss8444229023 | Nov 02, 2024 (157) |
| 96 | EVA | ss8512473803 | Nov 02, 2024 (157) |
| 97 | 1000G_HIGH_COVERAGE | ss8516084969 | Nov 02, 2024 (157) |
| 98 | SANFORD_IMAGENETICS | ss8624212872 | Nov 02, 2024 (157) |
| 99 | SANFORD_IMAGENETICS | ss8626103893 | Nov 02, 2024 (157) |
| 100 | TOMMO_GENOMICS | ss8670390118 | Nov 02, 2024 (157) |
| 101 | EVA | ss8832352296 | Nov 02, 2024 (157) |
| 102 | EVA | ss8847548141 | Nov 02, 2024 (157) |
| 103 | EVA | ss8848265996 | Nov 02, 2024 (157) |
| 104 | EVA | ss8909414739 | Nov 02, 2024 (157) |
| 105 | EVA | ss8935518982 | Nov 02, 2024 (157) |
| 106 | EVA | ss8935518983 | Nov 02, 2024 (157) |
| 107 | EVA | ss8937962694 | Nov 02, 2024 (157) |
| 108 | EVA | ss8979283096 | Nov 02, 2024 (157) |
| 109 | EVA | ss8982330823 | Nov 02, 2024 (157) |
| 110 | TOMMO_GENOMICS | ss8989728402 | Nov 02, 2024 (157) |
| 111 | 1000Genomes | NC_000001.10 - 97915614 | Oct 11, 2018 (152) |
| 112 | 1000Genomes_30X | NC_000001.11 - 97450058 | Nov 02, 2024 (157) |
| 113 | The Avon Longitudinal Study of Parents and Children | NC_000001.10 - 97915614 | Oct 11, 2018 (152) |
| 114 | Genetic variation in the Estonian population | NC_000001.10 - 97915614 | Oct 11, 2018 (152) |
| 115 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 11, 2018 (152) |
| 116 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 11, 2018 (152) |
| 117 | FINRISK | NC_000001.10 - 97915614 | Apr 25, 2020 (154) |
| 118 |
gnomAD v4 - Exomes
Submission ignored due to conflicting rows: |
- | Nov 02, 2024 (157) |
| 119 |
gnomAD v4 - Exomes
Submission ignored due to conflicting rows: |
- | Nov 02, 2024 (157) |
| 120 |
gnomAD v4 - Exomes
Submission ignored due to conflicting rows: |
- | Nov 02, 2024 (157) |
| 121 | gnomAD v4 - Genomes | NC_000001.11 - 97450058 | Nov 02, 2024 (157) |
| 122 | GO Exome Sequencing Project | NC_000001.10 - 97915614 | Oct 11, 2018 (152) |
| 123 | Genome of the Netherlands Release 5 | NC_000001.10 - 97915614 | Apr 25, 2020 (154) |
| 124 | HapMap | NC_000001.11 - 97450058 | Apr 25, 2020 (154) |
| 125 | Northern Sweden | NC_000001.10 - 97915614 | Jul 12, 2019 (153) |
| 126 | The PAGE Study | NC_000001.11 - 97450058 | Jul 12, 2019 (153) |
| 127 | MxGDAR/Encodat-PGx | NC_000001.10 - 97915614 | Apr 25, 2021 (155) |
| 128 | 38KJPN | NC_000001.11 - 97450058 | Nov 02, 2024 (157) |
| 129 |
TopMed
Submission ignored due to conflicting rows: |
- | Apr 25, 2021 (155) |
| 130 |
TopMed
Submission ignored due to conflicting rows: |
- | Apr 25, 2021 (155) |
| 131 | UK 10K study - Twins | NC_000001.10 - 97915614 | Oct 11, 2018 (152) |
| 132 | ALFA | NC_000001.11 - 97450058 | Nov 02, 2024 (157) |
| 133 | ClinVar | RCV000000460.29 | Nov 02, 2024 (157) |
| 134 | ClinVar | RCV000030868.15 | Nov 02, 2024 (157) |
| 135 | ClinVar | RCV000086468.39 | Nov 02, 2024 (157) |
| 136 | ClinVar | RCV000201291.10 | Nov 02, 2024 (157) |
| 137 | ClinVar | RCV000735355.10 | Nov 02, 2024 (157) |
| 138 | ClinVar | RCV001787337.10 | Nov 02, 2024 (157) |
| 139 | ClinVar | RCV001787359.9 | Nov 02, 2024 (157) |
| 140 | ClinVar | RCV001787360.10 | Nov 02, 2024 (157) |
| 141 | ClinVar | RCV001787361.10 | Nov 02, 2024 (157) |
| 142 | ClinVar | RCV003123363.5 | Nov 02, 2024 (157) |
| 143 | ClinVar | RCV003222484.1 | Nov 02, 2024 (157) |
| 144 | ClinVar | RCV004018525.1 | Nov 02, 2024 (157) |
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) |
|---|---|
| rs199469548 | Dec 28, 2011 (136) |
| rs386589337 | Aug 06, 2014 (136) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss8935518982 | NC_000001.10:97915613:C:A | NC_000001.11:97450057:C:A | (self) |
| ss6407779497 | NC_000001.11:97450057:C:A | NC_000001.11:97450057:C:A | |
| ss1685649940, ss2731656940, ss6349481078, ss8935518982 | NC_000001.10:97915613:C:G | NC_000001.11:97450057:C:G | (self) |
| RCV003123363.5, RCV003222484.1, 7798339712, ss4460150784, ss6407779498 | NC_000001.11:97450057:C:G | NC_000001.11:97450057:C:G | (self) |
| ss480874127, ss491598676, ss1584844705, ss1712356051, ss2635001389, ss3642784721 | NC_000001.9:97688201:C:T | NC_000001.11:97450057:C:T | (self) |
| 2810488, 1549193, 1103444, 5940, 92142, 671629, 586060, 80, 1549193, ss328797404, ss341976634, ss480892773, ss481834845, ss485232141, ss489753562, ss491297111, ss537208857, ss778528454, ss780879252, ss783062007, ss783564844, ss784020077, ss832319990, ss832966167, ss833556996, ss833984957, ss975467232, ss1292048891, ss1584009479, ss1600785127, ss1643779160, ss1685649939, ss1751941055, ss1751941056, ss1917731608, ss1946002589, ss1958295991, ss2632551820, ss2710678030, ss2731656940, ss2746378451, ss2758467646, ss2984868244, ss2985519675, ss2987282421, ss3626162104, ss3626162105, ss3630586078, ss3632902567, ss3633597547, ss3634338486, ss3634338487, ss3635291178, ss3636015922, ss3637041631, ss3637774465, ss3640045846, ss3640045847, ss3644498548, ss3653640121, ss3655365196, ss3727301195, ss3744348634, ss3744639459, ss3744639460, ss3772140698, ss3772140699, ss3823633508, ss3825570036, ss3984447079, ss3986128436, ss6208437353, ss6284040620, ss6322091886, ss8512473803, ss8624212872, ss8626103893, ss8832352296, ss8847548141, ss8848265996, ss8935518982, ss8935518983, ss8937962694, ss8979283096, ss8982330823 | NC_000001.10:97915613:C:T | NC_000001.11:97450057:C:T | (self) |
| RCV000000460.29, RCV000030868.15, RCV000086468.39, RCV000201291.10, RCV000735355.10, RCV001787337.10, RCV001787359.9, RCV001787360.10, RCV001787361.10, RCV004018525.1, 3610904, 21246469, 133463, 48818, 7104222, 7798339712, ss2164903312, ss3687339041, ss3770827349, ss3799558366, ss4460150785, ss6407779499, ss6494931708, ss8237162779, ss8237632434, ss8243272150, ss8444229023, ss8516084969, ss8670390118, ss8909414739, ss8989728402 | NC_000001.11:97450057:C:T | NC_000001.11:97450057:C:T | (self) |
| ss5112515, ss75254197, ss86349232, ss119468680, ss154278002, ss159454640, ss160655048, ss173673166 | NT_032977.9:67887531:C:T | NC_000001.11:97450057: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.
125
citations for rs3918290
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 7832988 | Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea. | Meinsma R et al. | 1995 | DNA and cell biology |
| 8051923 | Clinical and biochemical findings in six patients with pyrimidine degradation defects. | van Gennip AH et al. | 1994 | Journal of inherited metabolic disease |
| 8698850 | Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. | Wei X et al. | 1996 | The Journal of clinical investigation |
| 8892022 | A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency. | Vreken P et al. | 1996 | Journal of inherited metabolic disease |
| 9323575 | Partial epilepsy in a girl with a symptom-free sister: first two Finnish patients with dihydropyrimidine dehydrogenase deficiency. | Holopainen I et al. | 1997 | Journal of inherited metabolic disease |
| 9439663 | Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W. | Vreken P et al. | 1997 | Human genetics |
| 9470816 | Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity. | Van Kuilenburg AB et al. | 1997 | European journal of cancer (Oxford, England |
| 9686374 | Dihydropyrimidine dehydrogenase deficiency: a novel mutation and expression of missense mutations in E. coli. | Vreken P et al. | 1998 | Journal of inherited metabolic disease |
| 10071185 | Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. | Van Kuilenburg AB et al. | 1999 | Human genetics |
| 10803677 | Known variant DPYD alleles do not explain DPD deficiency in cancer patients. | Collie-Duguid ES et al. | 2000 | Pharmacogenetics |
| 11156223 | Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene. | van Kuilenburg AB et al. | 2000 | Clinical cancer research |
| 11350878 | Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency. | van Kuilenburg AB et al. | 2001 | Clinical cancer research |
| 11555601 | Prevalence of a common point mutation in the dihydropyrimidine dehydrogenase (DPD) gene within the 5'-splice donor site of intron 14 in patients with severe 5-fluorouracil (5-FU)- related toxicity compared with controls. | Raida M et al. | 2001 | Clinical cancer research |
| 11895907 | Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype. | Johnson MR et al. | 2002 | Clinical cancer research |
| 11953843 | Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene. | Maring JG et al. | 2002 | British journal of cancer |
| 11988088 | Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure. | van Kuilenburg AB et al. | 2002 | The Biochemical journal |
| 12209976 | Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14+1g>a mutation. | Van Kuilenburg AB et al. | 2002 | International journal of cancer |
| 12360106 | High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity. | Van Kuilenburg AB et al. | 2002 | Pharmacogenetics |
| 15017333 | Mutations in exon 14 of dihydropyrimidine dehydrogenase and 5-Fluorouracil toxicity in Portuguese colorectal cancer patients. | Salgueiro N et al. | 2004 | Genetics in medicine |
| 15858133 | 5-Fluorouracil/irinotecan induced lethal toxicity as a result of a combined pharmacogenetic syndrome: report of a case. | Steiner M et al. | 2005 | Journal of clinical pathology |
| 16151913 | Dihydropyrimidine dehydrogenase deficiency presenting at birth. | Al-Sanna'a NA et al. | 2005 | Journal of inherited metabolic disease |
| 16361556 | Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients. | Ezzeldin HH et al. | 2005 | Clinical cancer research |
| 17000685 | Pharmacogenetics of capecitabine in advanced breast cancer patients. | Largillier R et al. | 2006 | Clinical cancer research |
| 17064846 | 5-Fluorouracil-related severe toxicity: a comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency. | Boisdron-Celle M et al. | 2007 | Cancer letters |
| 17121937 | Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance. | Morel A et al. | 2006 | Molecular cancer therapeutics |
| 17165084 | DPYD*2A mutation: the most common mutation associated with DPD deficiency. | Saif MW et al. | 2007 | Cancer chemotherapy and pharmacology |
| 17203168 | Polymorphisms in the thymidylate synthase and dihydropyrimidine dehydrogenase genes predict response and toxicity to capecitabine-raltitrexed in colorectal cancer. | Salgado J et al. | 2007 | Oncology reports |
| 17335544 | Dihydropyrimidine dehydrogenase activity and the IVS14+1G>A mutation in patients developing 5FU-related toxicity. | Magné N et al. | 2007 | British journal of clinical pharmacology |
| 17697348 | Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE). | Ekstrøm PO et al. | 2007 | BMC genetics |
| 17700593 | The influence of fluorouracil outcome parameters on tolerance and efficacy in patients with advanced colorectal cancer. | Capitain O et al. | 2008 | The pharmacogenomics journal |
| 18299612 | Role of genetic and nongenetic factors for fluorouracil treatment-related severe toxicity: a prospective clinical trial by the German 5-FU Toxicity Study Group. | Schwab M et al. | 2008 | Journal of clinical oncology |
| 18443386 | 5-Fluorouracil toxicity-attributable IVS14 + 1G > A mutation of the dihydropyrimidine dehydrogenase gene in Polish colorectal cancer patients. | Sulzyc-Bielicka V et al. | 2008 | Pharmacological reports |
| 18547414 | Genotyping panel for assessing response to cancer chemotherapy. | Dai Z et al. | 2008 | BMC medical genomics |
| 18600527 | Pharmacokinetics of 5-fluorouracil in patients heterozygous for the IVS14+1G > A mutation in the dihydropyrimidine dehydrogenase gene. | van Kuilenburg AB et al. | 2008 | Nucleosides, nucleotides & nucleic acids |
| 19104657 | Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients. | Gross E et al. | 2008 | PloS one |
| 19473056 | Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidine-related toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidine-based chemotherapy. | Kleibl Z et al. | 2009 | Neoplasma |
| 19530960 | Dihydropyrimidine dehydrogenase gene variation and severe 5-fluorouracil toxicity: a haplotype assessment. | Amstutz U et al. | 2009 | Pharmacogenomics |
| 19795123 | The contribution of deleterious DPYD gene sequence variants to fluoropyrimidine toxicity in British cancer patients. | Loganayagam A et al. | 2010 | Cancer chemotherapy and pharmacology |
| 19858398 | Association of molecular markers with toxicity outcomes in a randomized trial of chemotherapy for advanced colorectal cancer: the FOCUS trial. | Braun MS et al. | 2009 | Journal of clinical oncology |
| 20385995 | Pharmacogenetic assessment of toxicity and outcome in patients with metastatic colorectal cancer treated with LV5FU2, FOLFOX, and FOLFIRI: FFCD 2000-05. | Boige V et al. | 2010 | Journal of clinical oncology |
| 20507294 | Investigation of IVS14 + 1G > A polymorphism of DPYD gene in a group of Bosnian patients treated with 5-Fluorouracil and capecitabine. | Cerić T et al. | 2010 | Bosnian journal of basic medical sciences |
| 20803296 | Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity. | van Kuilenburg AB et al. | 2010 | Human genetics |
| 20809970 | Promoter methylation and large intragenic rearrangements of DPYD are not implicated in severe toxicity to 5-fluorouracil-based chemotherapy in gastrointestinal cancer patients. | Savva-Bordalo J et al. | 2010 | BMC cancer |
| 20819423 | Variants in the dihydropyrimidine dehydrogenase, methylenetetrahydrofolate reductase and thymidylate synthase genes predict early toxicity of 5-fluorouracil in colorectal cancer patients. | Kristensen MH et al. | 2010 | The Journal of international medical research |
| 21410976 | Phase II study of preoperative radiation plus concurrent daily tegafur-uracil (UFT) with leucovorin for locally advanced rectal cancer. | Cellier P et al. | 2011 | BMC cancer |
| 21498394 | Relationship between single nucleotide polymorphisms and haplotypes in DPYD and toxicity and efficacy of capecitabine in advanced colorectal cancer. | Deenen MJ et al. | 2011 | Clinical cancer research |
| 21723269 | Genetic profiling of GSTP1, DPYD, FCGR2A, FCGR3A and CCND1 genes in an Argentinian population. | Galván CA et al. | 2011 | Clinical biochemistry |
| 22045187 | Methylenetetrahydrofolate reductase genetic polymorphisms and toxicity to 5-FU-based chemoradiation in rectal cancer. | Thomas F et al. | 2011 | British journal of cancer |
| 22339448 | Evaluation of 5-fluorouracil pharmacokinetics in cancer patients with a c.1905+1G>A mutation in DPYD by means of a Bayesian limited sampling strategy. | van Kuilenburg AB et al. | 2012 | Clinical pharmacokinetics |
| 22486600 | Multifactorial pharmacogenetic analysis in colorectal cancer patients receiving 5-fluorouracil-based therapy together with cetuximab-irinotecan. | Etienne-Grimaldi MC et al. | 2012 | British journal of clinical pharmacology |
| 22938532 | Sequencing and analysis of a South Asian-Indian personal genome. | Gupta R et al. | 2012 | BMC genomics |
| 22992668 | Pharmacogenomics knowledge for personalized medicine. | Whirl-Carrillo M et al. | 2012 | Clinical pharmacology and therapeutics |
| 23328581 | Phenotypic profiling of DPYD variations relevant to 5-fluorouracil sensitivity using real-time cellular analysis and in vitro measurement of enzyme activity. | Offer SM et al. | 2013 | Cancer research |
| 23335937 | High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity. | Borràs E et al. | 2012 | Frontiers in genetics |
| 23481061 | Genetic variability & chemotoxicity of 5-fluorouracil & cisplatin in head & neck cancer patients: a preliminary study. | Dhawan D et al. | 2013 | The Indian journal of medical research |
| 23585145 | Fluoropyrimidine toxicity in patients with dihydropyrimidine dehydrogenase splice site variant: the need for further revision of dose and schedule. | Magnani E et al. | 2013 | Internal and emergency medicine |
| 23603345 | Dihydropyrimidine dehydrogenase gene (DPYD) polymorphism among Caucasian and non-Caucasian patients with 5-FU- and capecitabine-related toxicity using full sequencing of DPYD. | Saif MW et al. | 2013 | Cancer genomics & proteomics |
| 23736036 | Pharmacogenetic variants in the DPYD, TYMS, CDA and MTHFR genes are clinically significant predictors of fluoropyrimidine toxicity. | Loganayagam A et al. | 2013 | British journal of cancer |
| 23835662 | Pharmacogenomics, ancestry and clinical decision making for global populations. | Ramos E et al. | 2014 | The pharmacogenomics journal |
| 23930673 | DPYD IVS14+1G>A and 2846A>T genotyping for the prediction of severe fluoropyrimidine-related toxicity: a meta-analysis. | Terrazzino S et al. | 2013 | Pharmacogenomics |
| 23988873 | Clinical Pharmacogenetics Implementation Consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing. | Caudle KE et al. | 2013 | Clinical pharmacology and therapeutics |
| 24167597 | Evaluating predictive pharmacogenetic signatures of adverse events in colorectal cancer patients treated with fluoropyrimidines. | Jennings BA et al. | 2013 | PloS one |
| 24590654 | Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis. | Rosmarin D et al. | 2014 | Journal of clinical oncology |
| 24647007 | A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS. | Rosmarin D et al. | 2015 | Gut |
| 24700034 | A rare cause of susceptibility to neutropenic sepsis in a patient with metastatic pancreas cancer. | Suarez Martinez-Falero B et al. | 2014 | BMJ case reports |
| 24817302 | The role of IVS14+1 G > A genotype detection in the dihydropyrimidine dehydrogenase gene and pharmacokinetic monitoring of 5-fluorouracil in the individualized adjustment of 5-fluorouracil for patients with local advanced and metastatic colorectal cancer: a preliminary report. | Cai X et al. | 2014 | European review for medical and pharmacological sciences |
| 24923815 | Clinical importance of risk variants in the dihydropyrimidine dehydrogenase gene for the prediction of early-onset fluoropyrimidine toxicity. | Froehlich TK et al. | 2015 | International journal of cancer |
| 24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
| 25110414 | Pharmacogenetics research on chemotherapy resistance in colorectal cancer over the last 20 years. | Panczyk M et al. | 2014 | World journal of gastroenterology |
| 25132748 | FOLFOX/FOLFIRI pharmacogenetics: the call for a personalized approach in colorectal cancer therapy. | Mohelnikova-Duchonova B et al. | 2014 | World journal of gastroenterology |
| 25266489 | Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China. | Zhang J et al. | 2014 | BMC genetics |
| 25381393 | DPYD variants as predictors of 5-fluorouracil toxicity in adjuvant colon cancer treatment (NCCTG N0147). | Lee AM et al. | 2014 | Journal of the National Cancer Institute |
| 25419701 | Exploring the distribution of genetic markers of pharmacogenomics relevance in Brazilian and Mexican populations. | Bonifaz-Peña V et al. | 2014 | PloS one |
| 25677447 | Germline TYMS genotype is highly predictive in patients with metastatic gastrointestinal malignancies receiving capecitabine-based chemotherapy. | Joerger M et al. | 2015 | Cancer chemotherapy and pharmacology |
| 25691056 | Variants in CDA and ABCB1 are predictors of capecitabine-related adverse reactions in colorectal cancer. | García-González X et al. | 2015 | Oncotarget |
| 25741868 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S et al. | 2015 | Genetics in medicine |
| 25746798 | Technical reproducibility of single-nucleotide and size-based DNA biomarker assessment using DNA extracted from formalin-fixed, paraffin-embedded tissues. | Zhang S et al. | 2015 | The Journal of molecular diagnostics |
| 26091847 | Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China. | Wang L et al. | 2015 | BMC genetics |
| 26099996 | Clinical validity of a DPYD-based pharmacogenetic test to predict severe toxicity to fluoropyrimidines. | Toffoli G et al. | 2015 | International journal of cancer |
| 26216193 | Genotype-phenotype correlations in 5-fluorouracil metabolism: a candidate DPYD haplotype to improve toxicity prediction. | Gentile G et al. | 2016 | The pharmacogenomics journal |
| 26265035 | Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio. | Thomas F et al. | 2016 | Clinical pharmacology and therapeutics |
| 26369774 | Impact of New Genomic Technologies on Understanding Adverse Drug Reactions. | Maggo SD et al. | 2016 | Clinical pharmacokinetics |
| 26603945 | Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data. | Meulendijks D et al. | 2015 | The Lancet. Oncology |
| 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 |
| 26794347 | DPYD Genotyping to Predict Adverse Events Following Treatment With Fluorouracil-Based Adjuvant Chemotherapy in Patients With Stage III Colon Cancer: A Secondary Analysis of the PETACC-8 Randomized Clinical Trial. | Boige V et al. | 2016 | JAMA oncology |
| 26801900 | Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations. | Cocca M et al. | 2016 | Journal of translational medicine |
| 26804652 | Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene. | Kuilenburg ABPV et al. | 2016 | Biochimica et biophysica acta |
| 26846104 | DPYD gene polymorphisms are associated with risk and chemotherapy prognosis in pediatric patients with acute lymphoblastic leukemia. | Zhao XQ et al. | 2016 | Tumour biology |
| 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 |
| 27090252 | A whole genome analyses of genetic variants in two Kelantan Malay individuals. | Wan Juhari WK et al. | 2014 | The HUGO journal |
| 27233804 | Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China. | Jin T et al. | 2016 | BMC genetics |
| 27248859 | Cost-effectiveness of screening for DPYD polymorphisms to prevent neutropenia in cancer patients treated with fluoropyrimidines. | Cortejoso L et al. | 2016 | Pharmacogenomics |
| 29065426 | Dihydropyrimidine dehydrogenase pharmacogenetics for predicting fluoropyrimidine-related toxicity in the randomised, phase III adjuvant TOSCA trial in high-risk colon cancer patients. | Ruzzo A et al. | 2017 | British journal of cancer |
| 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 |
| 29372689 | DPYD genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from Slovakia. | Matáková T et al. | 2017 | General physiology and biophysics |
| 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 |
| 30348537 | DPYD genotype-guided dose individualisation of fluoropyrimidine therapy in patients with cancer: a prospective safety analysis. | Henricks LM et al. | 2018 | The Lancet. Oncology |
| 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 |
| 32619063 | Impact of DPYD, DPYS, and UPB1 gene variations on severe drug-related toxicity in patients with cancer. | Yokoi K et al. | 2020 | Cancer science |
| 32625092 | Germline and Somatic Pharmacogenomics to Refine Rectal Cancer Patients Selection for Neo-Adjuvant Chemoradiotherapy. | De Mattia E et al. | 2020 | Frontiers in pharmacology |
| 32695278 | The Role of Dihydropyrimidine Dehydrogenase and Thymidylate Synthase Polymorphisms in Fluoropyrimidine-Based Cancer Chemotherapy in an Iranian Population. | Abbasian MH et al. | 2020 | Avicenna journal of medical biotechnology |
| 33105068 | Pharmacogenetic profiling of dihydropyrimidine dehydrogenase (DPYD) variants in the Indian population. | Naushad SM et al. | 2021 | The journal of gene medicine |
| 33232506 | Fluoropyrimidine chemotherapy: recommendations for DPYD genotyping and therapeutic drug monitoring of the Swiss Group of Pharmacogenomics and Personalised Therapy. | Hamzic S et al. | 2020 | Swiss medical weekly |
| 33346461 | [Analysis of carrying clinically significant allelic variants of TPMT and DPYD genes associated with the response to drug therapy in cancer practice among 9 ethnic groups of the Russian Federation]. | Mirzaev KB et al. | 2020 | Terapevticheskii arkhiv |
| 33348915 | PharmFrag: An Easy and Fast Multiplex Pharmacogenetics Assay to Simultaneously Analyze 9 Genetic Polymorphisms Involved in Response Variability of Anticancer Drugs. | Bouvet R et al. | 2020 | International journal of molecular sciences |
| 33491253 | Haplotype structure defines effects of common DPYD variants c.85T > C (rs1801265) and c.496A > G (rs2297595) on dihydropyrimidine dehydrogenase activity: Implication for 5-fluorouracil toxicity. | Hamzic S et al. | 2021 | British journal of clinical pharmacology |
| 33519226 | Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon. | Fernandes MR et al. | 2021 | Pharmacogenomics and personalized medicine |
| 34026625 | Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes. | Doddato G et al. | 2021 | Frontiers in oncology |
| 34577605 | Clinical Application of Pharmacogenetic Markers in the Treatment of Dermatologic Pathologies. | Membrive Jiménez C et al. | 2021 | Pharmaceuticals (Basel, Switzerland) |
| 34780066 | DPYD polymorphisms c.496A>G, c.2194G>A and c.85T>C and risk of severe adverse drug reactions in patients treated with fluoropyrimidine-based protocols. | Božina N et al. | 2022 | British journal of clinical pharmacology |
| 34893156 | Genetic polymorphisms on the effectiveness or safety of breast cancer treatment: Clinical relevance and future perspectives. | Cura Y et al. | 2021 | Mutation research. Reviews in mutation research |
| 34897655 | Frequency of DPYD gene variants and phenotype inference in a Southern Brazilian population. | Botton MR et al. | 2022 | Annals of human genetics |
| 35089958 | Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population. | Goljan E et al. | 2022 | PloS one |
| 35379107 | Frequency and clinical relevance of DPYD genetic variants in gastrointestinal cancer patients. | Riera P et al. | 2021 | Farmacia hospitalaria |
| 35473510 | Can upfront DPYD extended variant testing reduce toxicity and associated hospital costs of fluoropyrimidine chemotherapy? A propensity score matched analysis of 2022 UK patients. | Tsiachristas A et al. | 2022 | BMC cancer |
| 35582139 | The use of pharmacogenetics to increase the safety of colorectal cancer patients treated with fluoropyrimidines. | De Mattia E et al. | 2019 | Cancer drug resistance (Alhambra, Calif.) |
| 35743738 | Pharmacogenomic Profile of Amazonian Amerindians. | Rodrigues JCG et al. | 2022 | Journal of personalized medicine |
| 35761855 | Pharmacogenetics of Breast Cancer Treatments: A Sub-Saharan Africa Perspective. | Nthontho KC et al. | 2022 | Pharmacogenomics and personalized medicine |
| 36164570 | Prevalence of exposure to pharmacogenetic drugs by the Saudis treated at the health care centers of the Ministry of National Guard. | Alshabeeb MA et al. | 2022 | Saudi pharmaceutical journal |
| 36335097 | Analysis of clinically relevant variants from ancestrally diverse Asian genomes. | Chan SH et al. | 2022 | Nature communications |
| 36980706 | Influence of Single-Nucleotide Polymorphisms on Clinical Outcomes of Capecitabine-Based Chemotherapy in Colorectal Cancer Patients: A Systematic Review. | Cura Y et al. | 2023 | Cancers |
| 37256234 | Pharmacogenomic-guided dosing of fluoropyrimidines beyond DPYD: time for a polygenic algorithm? | Maslarinou A et al. | 2023 | Frontiers in pharmacology |
| 38004528 | Association of Single-Nucleotide Polymorphisms in Capecitabine Bioactivation Pathway with Adjuvant Therapy Safety in Colorectal Cancer Patients. | Cura Y et al. | 2023 | Pharmaceutics |
| 38488402 | Diversity of oncopharmacogenetic profile within Spanish population. | Ferrer Bolufer I et al. | 2024 | Pharmacogenetics and genomics |
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.