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.
rs55886062
Current Build 157
Released September 3, 2024
- Organism
- Homo sapiens
- Position
-
chr1:97515787 (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
- A>C / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.0006833 (957/1400538, GnomAD_exomes)C=0.000325 (86/264690, TOPMED)C=0.000632 (147/232414, ALFA) (+ 11 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- DPYD : Missense Variant
- Publications
- 53 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 | 232414 | A=0.999368 | C=0.000632 | 0.998735 | 0.0 | 0.001265 | 0 |
| European | Sub | 201388 | A=0.999305 | C=0.000695 | 0.99861 | 0.0 | 0.00139 | 0 |
| African | Sub | 9754 | A=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 360 | A=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 9394 | A=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 3412 | A=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 2732 | A=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 680 | A=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 794 | A=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 968 | A=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 280 | A=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 15818 | A=0.99956 | C=0.00044 | 0.999115 | 0.0 | 0.000885 | 0 |
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 |
|---|---|---|---|---|---|
| gnomAD v4 - Exomes | Global | Study-wide | 1400538 | A=0.9993167 | C=0.0006833 |
| gnomAD v4 - Exomes | European | Sub | 1164728 | A=0.9991809 | C=0.0008191 |
| gnomAD v4 - Exomes | South Asian | Sub | 86238 | A=1.00000 | C=0.00000 |
| gnomAD v4 - Exomes | American | Sub | 44622 | A=1.00000 | C=0.00000 |
| gnomAD v4 - Exomes | East Asian | Sub | 39684 | A=1.00000 | C=0.00000 |
| gnomAD v4 - Exomes | African | Sub | 33422 | A=0.99991 | C=0.00009 |
| gnomAD v4 - Exomes | Ashkenazi Jewish | Sub | 26084 | A=1.00000 | C=0.00000 |
| gnomAD v4 - Exomes | Middle Eastern | sub | 5760 | A=1.0000 | C=0.0000 |
| TopMed | Global | Study-wide | 264690 | A=0.999675 | C=0.000325 |
| Allele Frequency Aggregator | Total | Global | 232414 | A=0.999368 | C=0.000632 |
| Allele Frequency Aggregator | European | Sub | 201388 | A=0.999305 | C=0.000695 |
| Allele Frequency Aggregator | Other | Sub | 15818 | A=0.99956 | C=0.00044 |
| Allele Frequency Aggregator | African | Sub | 9754 | A=1.0000 | C=0.0000 |
| Allele Frequency Aggregator | Asian | Sub | 3412 | A=1.0000 | C=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 968 | A=1.000 | C=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 794 | A=1.000 | C=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 280 | A=1.000 | C=0.000 |
| gnomAD v4 - Genomes | Global | Study-wide | 149116 | A=0.999604 | C=0.000396 |
| gnomAD v4 - Genomes | European | Sub | 78578 | A=0.99936 | C=0.00064 |
| gnomAD v4 - Genomes | African | Sub | 41564 | A=0.99981 | C=0.00019 |
| gnomAD v4 - Genomes | American | Sub | 15224 | A=0.99993 | C=0.00007 |
| gnomAD v4 - Genomes | East Asian | Sub | 5162 | A=1.0000 | C=0.0000 |
| gnomAD v4 - Genomes | South Asian | Sub | 4828 | A=1.0000 | C=0.0000 |
| gnomAD v4 - Genomes | Ashkenazi Jewish | Sub | 3466 | A=1.0000 | C=0.0000 |
| gnomAD v4 - Genomes | Middle Eastern | sub | 294 | A=1.000 | C=0.000 |
| ExAC | Global | Study-wide | 120640 | A=0.999652 | C=0.000348 |
| ExAC | Europe | Sub | 72942 | A=0.99944 | C=0.00056 |
| ExAC | Asian | Sub | 25094 | A=1.00000 | C=0.00000 |
| ExAC | American | Sub | 11350 | A=1.00000 | C=0.00000 |
| ExAC | African | Sub | 10350 | A=1.00000 | C=0.00000 |
| ExAC | Other | Sub | 904 | A=0.999 | C=0.001 |
| The PAGE Study | Global | Study-wide | 78702 | A=0.99977 | C=0.00023 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | A=0.99972 | C=0.00028 |
| The PAGE Study | Mexican | Sub | 10810 | A=0.99981 | C=0.00019 |
| The PAGE Study | Asian | Sub | 8318 | A=1.0000 | C=0.0000 |
| The PAGE Study | PuertoRican | Sub | 7918 | A=1.0000 | C=0.0000 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | A=1.0000 | C=0.0000 |
| The PAGE Study | Cuban | Sub | 4230 | A=0.9998 | C=0.0002 |
| The PAGE Study | Dominican | Sub | 3828 | A=0.9995 | C=0.0005 |
| The PAGE Study | CentralAmerican | Sub | 2450 | A=0.9996 | C=0.0004 |
| The PAGE Study | SouthAmerican | Sub | 1982 | A=0.9995 | C=0.0005 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.9984 | C=0.0016 |
| The PAGE Study | SouthAsian | Sub | 856 | A=1.000 | C=0.000 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | A=0.99962 | C=0.00038 |
| GO Exome Sequencing Project | European American | Sub | 8600 | A=0.9994 | C=0.0006 |
| GO Exome Sequencing Project | African American | Sub | 4406 | A=1.0000 | C=0.0000 |
| 1000Genomes_30X | Global | Study-wide | 6404 | A=0.9997 | C=0.0003 |
| 1000Genomes_30X | African | Sub | 1786 | A=1.0000 | C=0.0000 |
| 1000Genomes_30X | Europe | Sub | 1266 | A=0.9984 | C=0.0016 |
| 1000Genomes_30X | South Asian | Sub | 1202 | A=1.0000 | C=0.0000 |
| 1000Genomes_30X | East Asian | Sub | 1170 | A=1.0000 | C=0.0000 |
| 1000Genomes_30X | American | Sub | 980 | A=1.000 | C=0.000 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.9998 | C=0.0002 |
| 1000Genomes | African | Sub | 1322 | A=1.0000 | C=0.0000 |
| 1000Genomes | East Asian | Sub | 1008 | A=1.0000 | C=0.0000 |
| 1000Genomes | Europe | Sub | 1006 | A=0.9990 | C=0.0010 |
| 1000Genomes | South Asian | Sub | 978 | A=1.000 | C=0.000 |
| 1000Genomes | American | Sub | 694 | A=1.000 | C=0.000 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.9993 | C=0.0007 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.9987 | C=0.0013 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.9995 | C=0.0005 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.998 | C=0.002 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.998 | C=0.002 |
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.97515787A>C |
| GRCh38.p14 chr 1 | NC_000001.11:g.97515787A>T |
| GRCh37.p13 chr 1 | NC_000001.10:g.97981343A>C |
| GRCh37.p13 chr 1 | NC_000001.10:g.97981343A>T |
| DPYD RefSeqGene (LRG_722) | NG_008807.2:g.410273T>G |
| DPYD RefSeqGene (LRG_722) | NG_008807.2:g.410273T>A |
Gene: DPYD, dihydropyrimidine dehydrogenase
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| DPYD transcript variant 2 | NM_001160301.1:c. | N/A | Genic Downstream Transcript Variant |
| DPYD transcript variant 1 | NM_000110.4:c.1679T>G | I [ATT] > S [AGT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 | NP_000101.2:p.Ile560Ser | I (Ile) > S (Ser) | Missense Variant |
| DPYD transcript variant 1 | NM_000110.4:c.1679T>A | I [ATT] > N [AAT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 | NP_000101.2:p.Ile560Asn | I (Ile) > N (Asn) | Missense Variant |
| DPYD transcript variant X2 |
XM_005270562.3:c.1524+337… XM_005270562.3:c.1524+33773T>G |
N/A | Intron Variant |
| DPYD transcript variant X4 |
XM_047448077.1:c.1413+337… XM_047448077.1:c.1413+33773T>G |
N/A | Intron Variant |
| DPYD transcript variant X1 | XM_017000507.2:c.1568T>G | I [ATT] > S [AGT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform X1 | XP_016855996.1:p.Ile523Ser | I (Ile) > S (Ser) | Missense Variant |
| DPYD transcript variant X1 | XM_017000507.2:c.1568T>A | I [ATT] > N [AAT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform X1 | XP_016855996.1:p.Ile523Asn | I (Ile) > N (Asn) | Missense Variant |
| DPYD transcript variant X3 | XM_047448076.1:c.1451T>G | I [ATT] > S [AGT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform X3 | XP_047304032.1:p.Ile484Ser | I (Ile) > S (Ser) | Missense Variant |
| DPYD transcript variant X3 | XM_047448076.1:c.1451T>A | I [ATT] > N [AAT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform X3 | XP_047304032.1:p.Ile484Asn | I (Ile) > N (Asn) | Missense Variant |
| DPYD transcript variant X5 | XM_006710397.4:c.1679T>G | I [ATT] > S [AGT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform X5 | XP_006710460.1:p.Ile560Ser | I (Ile) > S (Ser) | Missense Variant |
| DPYD transcript variant X5 | XM_006710397.4:c.1679T>A | I [ATT] > N [AAT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform X5 | XP_006710460.1:p.Ile560Asn | I (Ile) > N (Asn) | Missense 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: C (allele ID:
94530
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000086474.24 | not provided | Pathogenic |
| RCV000410952.17 | Dihydropyrimidine dehydrogenase deficiency | Pathogenic-Likely-Pathogenic |
| RCV001787326.10 | fluorouracil response - Toxicity | Drug-Response |
| RCV001787866.9 | fluorouracil response - Other | Drug-Response |
| RCV001787867.10 | capecitabine response - Toxicity | Drug-Response |
| RCV001787868.10 | tegafur response - Toxicity | 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 | A= | C | T |
|---|---|---|---|
| GRCh38.p14 chr 1 | NC_000001.11:g.97515787= | NC_000001.11:g.97515787A>C | NC_000001.11:g.97515787A>T |
| GRCh37.p13 chr 1 | NC_000001.10:g.97981343= | NC_000001.10:g.97981343A>C | NC_000001.10:g.97981343A>T |
| DPYD RefSeqGene (LRG_722) | NG_008807.2:g.410273= | NG_008807.2:g.410273T>G | NG_008807.2:g.410273T>A |
| DPYD transcript variant 1 | NM_000110.4:c.1679= | NM_000110.4:c.1679T>G | NM_000110.4:c.1679T>A |
| DPYD transcript variant 1 | NM_000110.3:c.1679= | NM_000110.3:c.1679T>G | NM_000110.3:c.1679T>A |
| DPYD transcript variant X5 | XM_006710397.4:c.1679= | XM_006710397.4:c.1679T>G | XM_006710397.4:c.1679T>A |
| DPYD transcript variant X3 | XM_006710397.3:c.1679= | XM_006710397.3:c.1679T>G | XM_006710397.3:c.1679T>A |
| DPYD transcript variant X2 | XM_006710397.2:c.1679= | XM_006710397.2:c.1679T>G | XM_006710397.2:c.1679T>A |
| DPYD transcript variant X3 | XM_006710397.1:c.1679= | XM_006710397.1:c.1679T>G | XM_006710397.1:c.1679T>A |
| DPYD transcript variant X1 | XM_017000507.2:c.1568= | XM_017000507.2:c.1568T>G | XM_017000507.2:c.1568T>A |
| DPYD transcript variant X1 | XM_017000507.1:c.1568= | XM_017000507.1:c.1568T>G | XM_017000507.1:c.1568T>A |
| DPYD transcript variant X3 | XM_047448076.1:c.1451= | XM_047448076.1:c.1451T>G | XM_047448076.1:c.1451T>A |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 | NP_000101.2:p.Ile560= | NP_000101.2:p.Ile560Ser | NP_000101.2:p.Ile560Asn |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform X5 | XP_006710460.1:p.Ile560= | XP_006710460.1:p.Ile560Ser | XP_006710460.1:p.Ile560Asn |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform X1 | XP_016855996.1:p.Ile523= | XP_016855996.1:p.Ile523Ser | XP_016855996.1:p.Ile523Asn |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform X3 | XP_047304032.1:p.Ile484= | XP_047304032.1:p.Ile484Ser | XP_047304032.1:p.Ile484Asn |
| DPYD transcript variant X2 | XM_005270562.1:c.1524+33773= | XM_005270562.1:c.1524+33773T>G | XM_005270562.1:c.1524+33773T>A |
| DPYD transcript variant X2 | XM_005270562.3:c.1524+33773= | XM_005270562.3:c.1524+33773T>G | XM_005270562.3:c.1524+33773T>A |
| DPYD transcript variant X4 | XM_047448077.1:c.1413+33773= | XM_047448077.1:c.1413+33773T>G | XM_047448077.1:c.1413+33773T>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#.
74 SubSNP,
14 Frequency,
6 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | ILLUMINA | ss75257106 | Dec 06, 2007 (129) |
| 2 | AFFY_DM3_1 | ss105434292 | Feb 06, 2009 (130) |
| 3 | SNP500CANCER | ss105437800 | Feb 06, 2009 (130) |
| 4 | ILLUMINA | ss161040748 | Dec 01, 2009 (131) |
| 5 | ILLUMINA | ss169135834 | Jul 04, 2010 (132) |
| 6 | BUSHMAN | ss198816784 | Jul 04, 2010 (132) |
| 7 | NHLBI-ESP | ss341976655 | May 09, 2011 (134) |
| 8 | ILLUMINA | ss483025606 | Sep 08, 2015 (146) |
| 9 | 1000GENOMES | ss488674691 | May 04, 2012 (137) |
| 10 | EXOME_CHIP | ss491297115 | May 04, 2012 (137) |
| 11 | CLINSEQ_SNP | ss491598679 | May 04, 2012 (137) |
| 12 | ILLUMINA | ss537652747 | Sep 08, 2015 (146) |
| 13 | ILLUMINA | ss780879265 | Aug 21, 2014 (142) |
| 14 | ILLUMINA | ss783564857 | Aug 21, 2014 (142) |
| 15 | EVA-GONL | ss975467719 | Aug 21, 2014 (142) |
| 16 | 1000GENOMES | ss1292050670 | Aug 21, 2014 (142) |
| 17 | CLINVAR | ss1457611775 | Nov 23, 2014 (142) |
| 18 | EVA_DECODE | ss1584845226 | Apr 01, 2015 (144) |
| 19 | EVA_UK10K_ALSPAC | ss1600786064 | Apr 01, 2015 (144) |
| 20 | EVA_UK10K_TWINSUK | ss1643780097 | Apr 01, 2015 (144) |
| 21 | EVA_EXAC | ss1685650003 | Apr 01, 2015 (144) |
| 22 | ILLUMINA | ss1751941123 | Sep 08, 2015 (146) |
| 23 | ILLUMINA | ss1917731612 | Feb 12, 2016 (147) |
| 24 | ILLUMINA | ss1946002600 | Feb 12, 2016 (147) |
| 25 | ILLUMINA | ss1946002601 | Feb 12, 2016 (147) |
| 26 | ILLUMINA | ss1958296014 | Feb 12, 2016 (147) |
| 27 | ILLUMINA | ss1958296015 | Feb 12, 2016 (147) |
| 28 | HUMAN_LONGEVITY | ss2164907361 | Dec 20, 2016 (150) |
| 29 | ILLUMINA | ss2632551894 | Nov 08, 2017 (151) |
| 30 | ILLUMINA | ss2710678042 | Nov 08, 2017 (151) |
| 31 | GNOMAD | ss2731657035 | Nov 08, 2017 (151) |
| 32 | GNOMAD | ss2746378476 | Nov 08, 2017 (151) |
| 33 | GNOMAD | ss2758472817 | Nov 08, 2017 (151) |
| 34 | AFFY | ss2984868257 | Nov 08, 2017 (151) |
| 35 | AFFY | ss2985519685 | Nov 08, 2017 (151) |
| 36 | SWEGEN | ss2987283129 | Nov 08, 2017 (151) |
| 37 | ILLUMINA | ss3021112890 | Nov 08, 2017 (151) |
| 38 | ILLUMINA | ss3625545920 | Oct 11, 2018 (152) |
| 39 | ILLUMINA | ss3626162231 | Oct 11, 2018 (152) |
| 40 | ILLUMINA | ss3626162232 | Oct 11, 2018 (152) |
| 41 | ILLUMINA | ss3634338541 | Oct 11, 2018 (152) |
| 42 | ILLUMINA | ss3636015983 | Oct 11, 2018 (152) |
| 43 | ILLUMINA | ss3637774537 | Oct 11, 2018 (152) |
| 44 | ILLUMINA | ss3640045901 | Oct 11, 2018 (152) |
| 45 | ILLUMINA | ss3642784789 | Oct 11, 2018 (152) |
| 46 | ILLUMINA | ss3644498560 | Oct 11, 2018 (152) |
| 47 | ILLUMINA | ss3644498561 | Oct 11, 2018 (152) |
| 48 | ILLUMINA | ss3651443536 | Oct 11, 2018 (152) |
| 49 | ILLUMINA | ss3653640134 | Oct 11, 2018 (152) |
| 50 | EGCUT_WGS | ss3655365996 | Jul 12, 2019 (153) |
| 51 | EVA_DECODE | ss3687339919 | Jul 12, 2019 (153) |
| 52 | ILLUMINA | ss3725047285 | Jul 12, 2019 (153) |
| 53 | ACPOP | ss3727301572 | Jul 12, 2019 (153) |
| 54 | ILLUMINA | ss3744050817 | Jul 12, 2019 (153) |
| 55 | ILLUMINA | ss3744348638 | Jul 12, 2019 (153) |
| 56 | ILLUMINA | ss3744639514 | Jul 12, 2019 (153) |
| 57 | PAGE_CC | ss3770827368 | Jul 12, 2019 (153) |
| 58 | ILLUMINA | ss3772140752 | Jul 12, 2019 (153) |
| 59 | EVA | ss3823633525 | Apr 25, 2020 (154) |
| 60 | TOPMED | ss4460167763 | Apr 25, 2021 (155) |
| 61 | EVA | ss6208439124 | Nov 02, 2024 (157) |
| 62 | EVA | ss6284041438 | Nov 02, 2024 (157) |
| 63 | GNOMAD | ss6407779968 | Nov 02, 2024 (157) |
| 64 | GNOMAD | ss6494946372 | Nov 02, 2024 (157) |
| 65 | 1000G_HIGH_COVERAGE | ss8243273598 | Nov 02, 2024 (157) |
| 66 | EVA | ss8320581268 | Nov 02, 2024 (157) |
| 67 | EVA | ss8512473809 | Nov 02, 2024 (157) |
| 68 | 1000G_HIGH_COVERAGE | ss8516087423 | Nov 02, 2024 (157) |
| 69 | SANFORD_IMAGENETICS | ss8624212889 | Nov 02, 2024 (157) |
| 70 | SANFORD_IMAGENETICS | ss8626104702 | Nov 02, 2024 (157) |
| 71 | EVA | ss8847548161 | Nov 02, 2024 (157) |
| 72 | EVA | ss8909416532 | Nov 02, 2024 (157) |
| 73 | EVA | ss8937963552 | Nov 02, 2024 (157) |
| 74 | EVA | ss8979283117 | Nov 02, 2024 (157) |
| 75 | 1000Genomes | NC_000001.10 - 97981343 | Oct 11, 2018 (152) |
| 76 | 1000Genomes_30X | NC_000001.11 - 97515787 | Nov 02, 2024 (157) |
| 77 | The Avon Longitudinal Study of Parents and Children | NC_000001.10 - 97981343 | Oct 11, 2018 (152) |
| 78 | Genetic variation in the Estonian population | NC_000001.10 - 97981343 | Oct 11, 2018 (152) |
| 79 | ExAC | NC_000001.10 - 97981343 | Oct 11, 2018 (152) |
| 80 | gnomAD v4 - Exomes | NC_000001.11 - 97515787 | Nov 02, 2024 (157) |
| 81 | gnomAD v4 - Genomes | NC_000001.11 - 97515787 | Nov 02, 2024 (157) |
| 82 | GO Exome Sequencing Project | NC_000001.10 - 97981343 | Oct 11, 2018 (152) |
| 83 | Genome of the Netherlands Release 5 | NC_000001.10 - 97981343 | Apr 25, 2020 (154) |
| 84 | Northern Sweden | NC_000001.10 - 97981343 | Jul 12, 2019 (153) |
| 85 | The PAGE Study | NC_000001.11 - 97515787 | Jul 12, 2019 (153) |
| 86 | TopMed | NC_000001.11 - 97515787 | Apr 25, 2021 (155) |
| 87 | UK 10K study - Twins | NC_000001.10 - 97981343 | Oct 11, 2018 (152) |
| 88 | ALFA | NC_000001.11 - 97515787 | Nov 02, 2024 (157) |
| 89 | ClinVar | RCV000086474.24 | Nov 02, 2024 (157) |
| 90 | ClinVar | RCV000410952.17 | Nov 02, 2024 (157) |
| 91 | ClinVar | RCV001787326.10 | Nov 02, 2024 (157) |
| 92 | ClinVar | RCV001787866.9 | Nov 02, 2024 (157) |
| 93 | ClinVar | RCV001787867.10 | Nov 02, 2024 (157) |
| 94 | ClinVar | RCV001787868.10 | 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) |
|---|---|
| rs199469542 | Dec 28, 2011 (136) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss491598679, ss1584845226, ss3642784789 | NC_000001.9:97753930:A:C | NC_000001.11:97515786:A:C | (self) |
| 2812335, 1550225, 1104244, 4855913, 92159, 672107, 586437, 1550225, ss341976655, ss483025606, ss488674691, ss491297115, ss537652747, ss780879265, ss783564857, ss975467719, ss1292050670, ss1600786064, ss1643780097, ss1685650003, ss1751941123, ss1917731612, ss1946002600, ss1946002601, ss1958296014, ss1958296015, ss2632551894, ss2710678042, ss2731657035, ss2746378476, ss2758472817, ss2984868257, ss2985519685, ss2987283129, ss3021112890, ss3625545920, ss3626162231, ss3626162232, ss3634338541, ss3636015983, ss3637774537, ss3640045901, ss3644498560, ss3644498561, ss3651443536, ss3653640134, ss3655365996, ss3727301572, ss3744050817, ss3744348638, ss3744639514, ss3772140752, ss3823633525, ss6208439124, ss6284041438, ss8320581268, ss8512473809, ss8624212889, ss8626104702, ss8847548161, ss8937963552 | NC_000001.10:97981342:A:C | NC_000001.11:97515786:A:C | (self) |
| RCV000086474.24, RCV000410952.17, RCV001787326.10, RCV001787866.9, RCV001787867.10, RCV001787868.10, 3613358, 3078301, 21261144, 48837, 23774098, 13748737143, ss1457611775, ss2164907361, ss3687339919, ss3725047285, ss3770827368, ss4460167763, ss6407779968, ss6494946372, ss8243273598, ss8516087423, ss8909416532 | NC_000001.11:97515786:A:C | NC_000001.11:97515786:A:C | (self) |
| ss75257106, ss105434292, ss105437800, ss161040748, ss169135834 | NT_032977.9:67953260:A:C | NC_000001.11:97515786:A:C | (self) |
| ss198816784 | NC_000001.9:97753930:A:T | NC_000001.11:97515786:A:T | (self) |
| ss8624212889, ss8847548161, ss8979283117 | NC_000001.10:97981342:A:T | NC_000001.11:97515786:A:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
53
citations for rs55886062
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 10803677 | Known variant DPYD alleles do not explain DPD deficiency in cancer patients. | Collie-Duguid ES et al. | 2000 | Pharmacogenetics |
| 11895907 | Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype. | Johnson MR et al. | 2002 | Clinical cancer research |
| 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 |
| 16361556 | Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients. | Ezzeldin HH et al. | 2005 | Clinical cancer research |
| 17121937 | Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance. | Morel A et al. | 2006 | Molecular cancer therapeutics |
| 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 |
| 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 |
| 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 |
| 23588312 | A DPYD variant (Y186C) in individuals of african ancestry is associated with reduced DPD enzyme activity. | Offer SM et al. | 2013 | Clinical pharmacology and therapeutics |
| 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 |
| 23988873 | Clinical Pharmacogenetics Implementation Consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing. | Caudle KE et al. | 2013 | Clinical pharmacology and therapeutics |
| 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 |
| 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 |
| 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 |
| 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 |
| 25410891 | Predicting 5-fluorouracil toxicity: DPD genotype and 5,6-dihydrouracil:uracil ratio. | Sistonen J et al. | 2014 | Pharmacogenomics |
| 25419701 | Exploring the distribution of genetic markers of pharmacogenomics relevance in Brazilian and Mexican populations. | Bonifaz-Peña V et al. | 2014 | PloS one |
| 25691056 | Variants in CDA and ABCB1 are predictors of capecitabine-related adverse reactions in colorectal cancer. | García-González X et al. | 2015 | Oncotarget |
| 25796495 | Lethal 5-fluorouracil toxicity in a colorectal patient with severe dihydropyrimidine dehydrogenase (DPD) deficiency. | Dhelens C et al. | 2016 | International journal of colorectal disease |
| 26099996 | Clinical validity of a DPYD-based pharmacogenetic test to predict severe toxicity to fluoropyrimidines. | Toffoli G et al. | 2015 | International journal of cancer |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 34577605 | Clinical Application of Pharmacogenetic Markers in the Treatment of Dermatologic Pathologies. | Membrive Jiménez C et al. | 2021 | Pharmaceuticals (Basel, Switzerland) |
| 34621706 | Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform. | Kim B et al. | 2021 | Translational and clinical pharmacology |
| 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 |
| 35379107 | Frequency and clinical relevance of DPYD genetic variants in gastrointestinal cancer patients. | Riera P et al. | 2021 | Farmacia hospitalaria |
| 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 |
| 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.