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.
rs1801265
Current Build 157
Released September 3, 2024
- Organism
- Homo sapiens
- Position
-
chr1:97883329 (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>G / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.2212514 (309802/1400226, GnomAD_exomes)G=0.221123 (84037/380046, ALFA)G=0.273444 (72378/264690, TOPMED) (+ 8 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- DPYD : Missense Variant
- Publications
- 34 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 | 380046 | A=0.778877 | G=0.221123 | 0.609247 | 0.051494 | 0.339259 | 23 |
| European | Sub | 322862 | A=0.784639 | G=0.215361 | 0.616177 | 0.046899 | 0.336924 | 1 |
| African | Sub | 16538 | A=0.59167 | G=0.40833 | 0.350828 | 0.167493 | 0.481679 | 0 |
| African Others | Sub | 592 | A=0.568 | G=0.432 | 0.327703 | 0.192568 | 0.47973 | 0 |
| African American | Sub | 15946 | A=0.59256 | G=0.40744 | 0.351687 | 0.166562 | 0.481751 | 0 |
| Asian | Sub | 6962 | A=0.9322 | G=0.0678 | 0.867567 | 0.00316 | 0.129273 | 1 |
| East Asian | Sub | 4996 | A=0.9390 | G=0.0610 | 0.880705 | 0.002802 | 0.116493 | 0 |
| Other Asian | Sub | 1966 | A=0.9151 | G=0.0849 | 0.834181 | 0.004069 | 0.16175 | 1 |
| Latin American 1 | Sub | 1422 | A=0.7293 | G=0.2707 | 0.523207 | 0.064698 | 0.412096 | 1 |
| Latin American 2 | Sub | 3156 | A=0.7728 | G=0.2272 | 0.589354 | 0.043726 | 0.36692 | 2 |
| South Asian | Sub | 5216 | A=0.7393 | G=0.2607 | 0.552914 | 0.074387 | 0.372699 | 2 |
| Other | Sub | 23890 | A=0.79833 | G=0.20167 | 0.639263 | 0.042612 | 0.318125 | 1 |
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 | 1400226 | A=0.7787486 | G=0.2212514 |
| gnomAD v4 - Exomes | European | Sub | 1164424 | A=0.7782243 | G=0.2217757 |
| gnomAD v4 - Exomes | South Asian | Sub | 86222 | A=0.74715 | G=0.25285 |
| gnomAD v4 - Exomes | American | Sub | 44678 | A=0.78576 | G=0.21424 |
| gnomAD v4 - Exomes | East Asian | Sub | 39624 | A=0.94839 | G=0.05161 |
| gnomAD v4 - Exomes | African | Sub | 33424 | A=0.58748 | G=0.41252 |
| gnomAD v4 - Exomes | Ashkenazi Jewish | Sub | 26096 | A=0.88485 | G=0.11515 |
| gnomAD v4 - Exomes | Middle Eastern | sub | 5758 | A=0.7655 | G=0.2345 |
| Allele Frequency Aggregator | Total | Global | 380046 | A=0.778877 | G=0.221123 |
| Allele Frequency Aggregator | European | Sub | 322862 | A=0.784639 | G=0.215361 |
| Allele Frequency Aggregator | Other | Sub | 23890 | A=0.79833 | G=0.20167 |
| Allele Frequency Aggregator | African | Sub | 16538 | A=0.59167 | G=0.40833 |
| Allele Frequency Aggregator | Asian | Sub | 6962 | A=0.9322 | G=0.0678 |
| Allele Frequency Aggregator | South Asian | Sub | 5216 | A=0.7393 | G=0.2607 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 3156 | A=0.7728 | G=0.2272 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1422 | A=0.7293 | G=0.2707 |
| TopMed | Global | Study-wide | 264690 | A=0.726556 | G=0.273444 |
| gnomAD v4 - Genomes | Global | Study-wide | 149006 | A=0.725843 | G=0.274157 |
| gnomAD v4 - Genomes | European | Sub | 78554 | A=0.76691 | G=0.23309 |
| gnomAD v4 - Genomes | African | Sub | 41462 | A=0.59597 | G=0.40403 |
| gnomAD v4 - Genomes | American | Sub | 15260 | A=0.75236 | G=0.24764 |
| gnomAD v4 - Genomes | East Asian | Sub | 5144 | A=0.9281 | G=0.0719 |
| gnomAD v4 - Genomes | South Asian | Sub | 4822 | A=0.7530 | G=0.2470 |
| gnomAD v4 - Genomes | Ashkenazi Jewish | Sub | 3470 | A=0.8893 | G=0.1107 |
| gnomAD v4 - Genomes | Middle Eastern | sub | 294 | A=0.779 | G=0.221 |
| The PAGE Study | Global | Study-wide | 78688 | A=0.71954 | G=0.28046 |
| The PAGE Study | AfricanAmerican | Sub | 32506 | A=0.60429 | G=0.39571 |
| The PAGE Study | Mexican | Sub | 10808 | A=0.78969 | G=0.21031 |
| The PAGE Study | Asian | Sub | 8318 | A=0.9556 | G=0.0444 |
| The PAGE Study | PuertoRican | Sub | 7918 | A=0.7432 | G=0.2568 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | A=0.8518 | G=0.1482 |
| The PAGE Study | Cuban | Sub | 4228 | A=0.7632 | G=0.2368 |
| The PAGE Study | Dominican | Sub | 3828 | A=0.6695 | G=0.3305 |
| The PAGE Study | CentralAmerican | Sub | 2450 | A=0.7461 | G=0.2539 |
| The PAGE Study | SouthAmerican | Sub | 1982 | A=0.7836 | G=0.2164 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.7397 | G=0.2603 |
| The PAGE Study | SouthAsian | Sub | 856 | A=0.750 | G=0.250 |
| 38KJPN | JAPANESE | Study-wide | 77442 | A=0.96796 | G=0.03204 |
| Korean Genome Project 4K | KOREAN | Study-wide | 7230 | A=0.9437 | G=0.0563 |
| 1000Genomes_30X | Global | Study-wide | 6404 | A=0.7353 | G=0.2647 |
| 1000Genomes_30X | African | Sub | 1786 | A=0.5554 | G=0.4446 |
| 1000Genomes_30X | Europe | Sub | 1266 | A=0.7899 | G=0.2101 |
| 1000Genomes_30X | South Asian | Sub | 1202 | A=0.7338 | G=0.2662 |
| 1000Genomes_30X | East Asian | Sub | 1170 | A=0.9154 | G=0.0846 |
| 1000Genomes_30X | American | Sub | 980 | A=0.780 | G=0.220 |
| HapMap | Global | Study-wide | 1890 | A=0.7217 | G=0.2783 |
| HapMap | American | Sub | 770 | A=0.781 | G=0.219 |
| HapMap | African | Sub | 690 | A=0.571 | G=0.429 |
| HapMap | Asian | Sub | 254 | A=0.929 | G=0.071 |
| HapMap | Europe | Sub | 176 | A=0.756 | G=0.244 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.9460 | G=0.0540 |
| PharmGKB Aggregated | Global | Study-wide | 354 | A=0.819 | G=0.181 |
| PharmGKB Aggregated | PA149735742 | Sub | 354 | A=0.819 | G=0.181 |
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.97883329A>C |
| GRCh38.p14 chr 1 | NC_000001.11:g.97883329A>G |
| GRCh38.p14 chr 1 | NC_000001.11:g.97883329A>T |
| GRCh37.p13 chr 1 | NC_000001.10:g.98348885G>A |
| GRCh37.p13 chr 1 | NC_000001.10:g.98348885G>C |
| GRCh37.p13 chr 1 | NC_000001.10:g.98348885G>T |
| DPYD RefSeqGene (LRG_722) | NG_008807.2:g.42731T>G |
| DPYD RefSeqGene (LRG_722) | NG_008807.2:g.42731T>C |
| DPYD RefSeqGene (LRG_722) | NG_008807.2:g.42731T>A |
Gene: DPYD, dihydropyrimidine dehydrogenase
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| DPYD transcript variant 2 | NM_001160301.1:c.85T>G | C [TGT] > G [GGT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform 2 | NP_001153773.1:p.Cys29Gly | C (Cys) > G (Gly) | Missense Variant |
| DPYD transcript variant 2 | NM_001160301.1:c.85T>C | C [TGT] > R [CGT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform 2 | NP_001153773.1:p.Cys29Arg | C (Cys) > R (Arg) | Missense Variant |
| DPYD transcript variant 2 | NM_001160301.1:c.85T>A | C [TGT] > S [AGT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform 2 | NP_001153773.1:p.Cys29Ser | C (Cys) > S (Ser) | Missense Variant |
| DPYD transcript variant 1 | NM_000110.4:c.85T>G | C [TGT] > G [GGT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 | NP_000101.2:p.Cys29Gly | C (Cys) > G (Gly) | Missense Variant |
| DPYD transcript variant 1 | NM_000110.4:c.85T>C | C [TGT] > R [CGT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 | NP_000101.2:p.Cys29Arg | C (Cys) > R (Arg) | Missense Variant |
| DPYD transcript variant 1 | NM_000110.4:c.85T>A | C [TGT] > S [AGT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 | NP_000101.2:p.Cys29Ser | C (Cys) > S (Ser) | Missense Variant |
| DPYD transcript variant X1 |
XM_017000507.2:c.39+37555… XM_017000507.2:c.39+37555T>G |
N/A | Intron Variant |
| DPYD transcript variant X4 |
XM_047448077.1:c.39+37555… XM_047448077.1:c.39+37555T>G |
N/A | Intron Variant |
| DPYD transcript variant X3 | XM_047448076.1:c.-144= | N/A | 5 Prime UTR Variant |
| DPYD transcript variant X2 | XM_005270562.3:c.85T>G | C [TGT] > G [GGT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform X2 | XP_005270619.2:p.Cys29Gly | C (Cys) > G (Gly) | Missense Variant |
| DPYD transcript variant X2 | XM_005270562.3:c.85T>C | C [TGT] > R [CGT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform X2 | XP_005270619.2:p.Cys29Arg | C (Cys) > R (Arg) | Missense Variant |
| DPYD transcript variant X2 | XM_005270562.3:c.85T>A | C [TGT] > S [AGT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform X2 | XP_005270619.2:p.Cys29Ser | C (Cys) > S (Ser) | Missense Variant |
| DPYD transcript variant X5 | XM_006710397.4:c.85T>G | C [TGT] > G [GGT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform X5 | XP_006710460.1:p.Cys29Gly | C (Cys) > G (Gly) | Missense Variant |
| DPYD transcript variant X5 | XM_006710397.4:c.85T>C | C [TGT] > R [CGT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform X5 | XP_006710460.1:p.Cys29Arg | C (Cys) > R (Arg) | Missense Variant |
| DPYD transcript variant X5 | XM_006710397.4:c.85T>A | C [TGT] > S [AGT] | Coding Sequence Variant |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform X5 | XP_006710460.1:p.Cys29Ser | C (Cys) > S (Ser) | Missense Variant |
| DPYD transcript variant X6 | XR_001737014.2:n.222T>G | N/A | Non Coding Transcript Variant |
| DPYD transcript variant X6 | XR_001737014.2:n.222T>C | N/A | Non Coding Transcript Variant |
| DPYD transcript variant X6 | XR_001737014.2:n.222T>A | N/A | Non Coding 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: A= (allele ID:
106000
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000086506.16 | not provided | Benign |
Allele: G (allele ID:
15474
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000000464.11 | Dihydropyrimidine dehydrogenase deficiency | Pathogenic |
| RCV000711510.14 | not provided | Benign |
| RCV001787362.10 | capecitabine response - Toxicity | Drug-Response |
| RCV001787363.10 | fluorouracil response - Toxicity | Drug-Response |
| RCV002247229.9 | not specified | Benign |
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 | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 1 | NC_000001.11:g.97883329= | NC_000001.11:g.97883329A>C | NC_000001.11:g.97883329A>G | NC_000001.11:g.97883329A>T |
| GRCh37.p13 chr 1 | NC_000001.10:g.98348885G>A | NC_000001.10:g.98348885G>C | NC_000001.10:g.98348885= | NC_000001.10:g.98348885G>T |
| DPYD RefSeqGene (LRG_722) | NG_008807.2:g.42731= | NG_008807.2:g.42731T>G | NG_008807.2:g.42731T>C | NG_008807.2:g.42731T>A |
| DPYD transcript variant 1 | NM_000110.4:c.85= | NM_000110.4:c.85T>G | NM_000110.4:c.85T>C | NM_000110.4:c.85T>A |
| DPYD transcript variant 1 | NM_000110.3:c.85= | NM_000110.3:c.85T>G | NM_000110.3:c.85T>C | NM_000110.3:c.85T>A |
| DPYD transcript variant 2 | NM_001160301.1:c.85= | NM_001160301.1:c.85T>G | NM_001160301.1:c.85T>C | NM_001160301.1:c.85T>A |
| DPYD transcript variant X5 | XM_006710397.4:c.85= | XM_006710397.4:c.85T>G | XM_006710397.4:c.85T>C | XM_006710397.4:c.85T>A |
| DPYD transcript variant X3 | XM_006710397.3:c.85= | XM_006710397.3:c.85T>G | XM_006710397.3:c.85T>C | XM_006710397.3:c.85T>A |
| DPYD transcript variant X2 | XM_006710397.2:c.85= | XM_006710397.2:c.85T>G | XM_006710397.2:c.85T>C | XM_006710397.2:c.85T>A |
| DPYD transcript variant X3 | XM_006710397.1:c.85= | XM_006710397.1:c.85T>G | XM_006710397.1:c.85T>C | XM_006710397.1:c.85T>A |
| DPYD transcript variant X2 | XM_005270562.3:c.85= | XM_005270562.3:c.85T>G | XM_005270562.3:c.85T>C | XM_005270562.3:c.85T>A |
| DPYD transcript variant X2 | XM_005270562.2:c.85= | XM_005270562.2:c.85T>G | XM_005270562.2:c.85T>C | XM_005270562.2:c.85T>A |
| DPYD transcript variant X2 | XM_005270562.1:c.85C>T | XM_005270562.1:c.85C>G | XM_005270562.1:c.85= | XM_005270562.1:c.85C>A |
| DPYD transcript variant X6 | XR_001737014.2:n.222= | XR_001737014.2:n.222T>G | XR_001737014.2:n.222T>C | XR_001737014.2:n.222T>A |
| DPYD transcript variant X7 | XR_001737014.1:n.222= | XR_001737014.1:n.222T>G | XR_001737014.1:n.222T>C | XR_001737014.1:n.222T>A |
| DPYD transcript variant X3 | XM_047448076.1:c.-144= | XM_047448076.1:c.-144T>G | XM_047448076.1:c.-144T>C | XM_047448076.1:c.-144T>A |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 | NP_000101.2:p.Cys29= | NP_000101.2:p.Cys29Gly | NP_000101.2:p.Cys29Arg | NP_000101.2:p.Cys29Ser |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform 2 | NP_001153773.1:p.Cys29= | NP_001153773.1:p.Cys29Gly | NP_001153773.1:p.Cys29Arg | NP_001153773.1:p.Cys29Ser |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform X5 | XP_006710460.1:p.Cys29= | XP_006710460.1:p.Cys29Gly | XP_006710460.1:p.Cys29Arg | XP_006710460.1:p.Cys29Ser |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform X2 | XP_005270619.2:p.Cys29= | XP_005270619.2:p.Cys29Gly | XP_005270619.2:p.Cys29Arg | XP_005270619.2:p.Cys29Ser |
| DPYD transcript variant X1 | XM_005270561.1:c.39+37555C>T | XM_005270561.1:c.39+37555C>G | XM_005270561.1:c.39+37555= | XM_005270561.1:c.39+37555C>A |
| DPYD transcript variant X1 | XM_017000507.2:c.39+37555= | XM_017000507.2:c.39+37555T>G | XM_017000507.2:c.39+37555T>C | XM_017000507.2:c.39+37555T>A |
| DPYD transcript variant X4 | XM_047448077.1:c.39+37555= | XM_047448077.1:c.39+37555T>G | XM_047448077.1:c.39+37555T>C | XM_047448077.1:c.39+37555T>A |
| dihydropyrimidine dehydrogenase [NADP(+)] isoform X2 | XP_005270619.1:p.Arg29Cys | XP_005270619.1:p.Arg29Gly | XP_005270619.1:p.Arg29= | XP_005270619.1:p.Arg29Ser |
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#.
230 SubSNP,
11 Frequency,
6 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | HGBASE | ss2421504 | Nov 14, 2000 (89) |
| 2 | LEE | ss4442153 | May 29, 2002 (110) |
| 3 | CSHL-HAPMAP | ss19100782 | Feb 27, 2004 (120) |
| 4 | SSAHASNP | ss20497211 | Apr 05, 2004 (121) |
| 5 | PERLEGEN | ss23739939 | Sep 20, 2004 (123) |
| 6 | ILLUMINA | ss66641157 | Dec 01, 2006 (127) |
| 7 | ILLUMINA | ss67197058 | Dec 01, 2006 (127) |
| 8 | ILLUMINA | ss67586072 | Dec 01, 2006 (127) |
| 9 | PERLEGEN | ss68775114 | May 17, 2007 (127) |
| 10 | ILLUMINA | ss70675268 | May 23, 2008 (130) |
| 11 | ILLUMINA | ss71238282 | May 17, 2007 (127) |
| 12 | AFFY | ss74817211 | Aug 16, 2007 (128) |
| 13 | ILLUMINA | ss75540740 | Dec 06, 2007 (129) |
| 14 | CGM_KYOTO | ss76875560 | Dec 06, 2007 (129) |
| 15 | SI_EXO | ss76885934 | Dec 06, 2007 (129) |
| 16 | ILLUMINA | ss79094264 | Dec 14, 2007 (130) |
| 17 | KRIBB_YJKIM | ss83877660 | Dec 14, 2007 (130) |
| 18 | PHARMGKB_AB_DME | ss84156610 | Dec 14, 2007 (130) |
| 19 | CANCER-GENOME | ss86342034 | Mar 23, 2008 (129) |
| 20 | BCMHGSC_JDW | ss87649486 | Mar 23, 2008 (129) |
| 21 | HUMANGENOME_JCVI | ss97960568 | Feb 04, 2009 (130) |
| 22 | BGI | ss106588809 | Feb 04, 2009 (130) |
| 23 | 1000GENOMES | ss108443064 | Jan 23, 2009 (130) |
| 24 | ILLUMINA-UK | ss118912224 | Dec 01, 2009 (131) |
| 25 | ILLUMINA | ss121814372 | Dec 01, 2009 (131) |
| 26 | ENSEMBL | ss138043241 | Dec 01, 2009 (131) |
| 27 | ENSEMBL | ss138845666 | Dec 01, 2009 (131) |
| 28 | ILLUMINA | ss153736710 | Dec 01, 2009 (131) |
| 29 | GMI | ss155399922 | Dec 01, 2009 (131) |
| 30 | ILLUMINA | ss159329806 | Dec 01, 2009 (131) |
| 31 | SEATTLESEQ | ss159698110 | Dec 01, 2009 (131) |
| 32 | ILLUMINA | ss160463016 | Dec 01, 2009 (131) |
| 33 | COMPLETE_GENOMICS | ss164851465 | Jul 04, 2010 (132) |
| 34 | COMPLETE_GENOMICS | ss166891690 | Jul 04, 2010 (132) |
| 35 | OMICIA | ss169608554 | Feb 08, 2013 (137) |
| 36 | ILLUMINA | ss170815672 | Jul 04, 2010 (132) |
| 37 | ILLUMINA | ss172925455 | Jul 04, 2010 (132) |
| 38 | BUSHMAN | ss198818800 | Jul 04, 2010 (132) |
| 39 | BCM-HGSC-SUB | ss205077631 | Jul 04, 2010 (132) |
| 40 | 1000GENOMES | ss210595351 | Jul 14, 2010 (132) |
| 41 | 1000GENOMES | ss218542454 | Jul 14, 2010 (132) |
| 42 | 1000GENOMES | ss230651963 | Jul 14, 2010 (132) |
| 43 | 1000GENOMES | ss238320165 | Jul 15, 2010 (132) |
| 44 | BL | ss253307169 | May 09, 2011 (134) |
| 45 | OMIM-CURATED-RECORDS | ss275517599 | Oct 18, 2012 (137) |
| 46 | GMI | ss275941000 | May 04, 2012 (137) |
| 47 | PJP | ss290578287 | May 09, 2011 (134) |
| 48 | NHLBI-ESP | ss341976740 | May 09, 2011 (134) |
| 49 | ILLUMINA | ss480300968 | May 04, 2012 (137) |
| 50 | ILLUMINA | ss480312083 | May 04, 2012 (137) |
| 51 | ILLUMINA | ss481067859 | Sep 08, 2015 (146) |
| 52 | ILLUMINA | ss484948297 | May 04, 2012 (137) |
| 53 | 1000GENOMES | ss489753637 | May 04, 2012 (137) |
| 54 | EXOME_CHIP | ss491297133 | May 04, 2012 (137) |
| 55 | CLINSEQ_SNP | ss491598697 | May 04, 2012 (137) |
| 56 | ILLUMINA | ss536992448 | Sep 08, 2015 (146) |
| 57 | TISHKOFF | ss554469283 | Apr 25, 2013 (138) |
| 58 | SSMP | ss648245423 | Apr 25, 2013 (138) |
| 59 | ILLUMINA | ss778467827 | Sep 08, 2015 (146) |
| 60 | ILLUMINA | ss780879395 | Sep 08, 2015 (146) |
| 61 | ILLUMINA | ss782920456 | Sep 08, 2015 (146) |
| 62 | ILLUMINA | ss783564991 | Sep 08, 2015 (146) |
| 63 | ILLUMINA | ss783883483 | Sep 08, 2015 (146) |
| 64 | ILLUMINA | ss825424782 | Apr 01, 2015 (144) |
| 65 | ILLUMINA | ss832175583 | Sep 08, 2015 (146) |
| 66 | ILLUMINA | ss832841815 | Jul 12, 2019 (153) |
| 67 | ILLUMINA | ss833923586 | Sep 08, 2015 (146) |
| 68 | JMKIDD_LAB | ss974436258 | Aug 21, 2014 (142) |
| 69 | EVA-GONL | ss975470032 | Aug 21, 2014 (142) |
| 70 | JMKIDD_LAB | ss1067423571 | Aug 21, 2014 (142) |
| 71 | JMKIDD_LAB | ss1068118573 | Aug 21, 2014 (142) |
| 72 | 1000GENOMES | ss1292060303 | Aug 21, 2014 (142) |
| 73 | HAMMER_LAB | ss1397254829 | Sep 08, 2015 (146) |
| 74 | DDI | ss1425907812 | Apr 01, 2015 (144) |
| 75 | EVA_GENOME_DK | ss1574261742 | Apr 01, 2015 (144) |
| 76 | EVA_FINRISK | ss1584009489 | Apr 01, 2015 (144) |
| 77 | EVA_DECODE | ss1584847786 | Apr 01, 2015 (144) |
| 78 | EVA_UK10K_ALSPAC | ss1600791226 | Apr 01, 2015 (144) |
| 79 | EVA_UK10K_TWINSUK | ss1643785259 | Apr 01, 2015 (144) |
| 80 | EVA_EXAC | ss1685650516 | Apr 01, 2015 (144) |
| 81 | EVA_MGP | ss1710913179 | Apr 01, 2015 (144) |
| 82 | EVA_SVP | ss1712356314 | Apr 01, 2015 (144) |
| 83 | ILLUMINA | ss1751941450 | Sep 08, 2015 (146) |
| 84 | ILLUMINA | ss1751941451 | Sep 08, 2015 (146) |
| 85 | HAMMER_LAB | ss1794790953 | Sep 08, 2015 (146) |
| 86 | ILLUMINA | ss1917731629 | Feb 12, 2016 (147) |
| 87 | WEILL_CORNELL_DGM | ss1918670304 | Feb 12, 2016 (147) |
| 88 | ILLUMINA | ss1946002654 | Feb 12, 2016 (147) |
| 89 | ILLUMINA | ss1946002655 | Feb 12, 2016 (147) |
| 90 | ILLUMINA | ss1958296165 | Feb 12, 2016 (147) |
| 91 | ILLUMINA | ss1958296166 | Feb 12, 2016 (147) |
| 92 | GENOMED | ss1966817815 | Jul 19, 2016 (147) |
| 93 | JJLAB | ss2019856276 | Sep 14, 2016 (149) |
| 94 | ILLUMINA | ss2094783952 | Dec 20, 2016 (150) |
| 95 | ILLUMINA | ss2094968449 | Dec 20, 2016 (150) |
| 96 | USC_VALOUEV | ss2147875135 | Dec 20, 2016 (150) |
| 97 | HUMAN_LONGEVITY | ss2164929388 | Dec 20, 2016 (150) |
| 98 | SYSTEMSBIOZJU | ss2624439680 | Nov 08, 2017 (151) |
| 99 | ILLUMINA | ss2632552296 | Nov 08, 2017 (151) |
| 100 | ILLUMINA | ss2632552297 | Nov 08, 2017 (151) |
| 101 | ILLUMINA | ss2635001480 | Nov 08, 2017 (151) |
| 102 | GRF | ss2697802358 | Nov 08, 2017 (151) |
| 103 | ILLUMINA | ss2710678089 | Nov 08, 2017 (151) |
| 104 | GNOMAD | ss2731657823 | Nov 08, 2017 (151) |
| 105 | GNOMAD | ss2746378715 | Nov 08, 2017 (151) |
| 106 | GNOMAD | ss2758501913 | Nov 08, 2017 (151) |
| 107 | AFFY | ss2984868301 | Nov 08, 2017 (151) |
| 108 | AFFY | ss2985519727 | Nov 08, 2017 (151) |
| 109 | SWEGEN | ss2987286767 | Nov 08, 2017 (151) |
| 110 | ILLUMINA | ss3021113078 | Nov 08, 2017 (151) |
| 111 | ILLUMINA | ss3021113079 | Nov 08, 2017 (151) |
| 112 | BIOINF_KMB_FNS_UNIBA | ss3023691798 | Nov 08, 2017 (151) |
| 113 | CSIRBIOHTS | ss3029637216 | Nov 08, 2017 (151) |
| 114 | CSHL | ss3343590342 | Nov 08, 2017 (151) |
| 115 | ILLUMINA | ss3625545964 | Oct 11, 2018 (152) |
| 116 | ILLUMINA | ss3626162896 | Oct 11, 2018 (152) |
| 117 | ILLUMINA | ss3626162897 | Oct 11, 2018 (152) |
| 118 | ILLUMINA | ss3630586518 | Oct 11, 2018 (152) |
| 119 | ILLUMINA | ss3632902887 | Oct 11, 2018 (152) |
| 120 | ILLUMINA | ss3633597875 | Oct 11, 2018 (152) |
| 121 | ILLUMINA | ss3634338827 | Oct 11, 2018 (152) |
| 122 | ILLUMINA | ss3634338828 | Oct 11, 2018 (152) |
| 123 | ILLUMINA | ss3635291498 | Oct 11, 2018 (152) |
| 124 | ILLUMINA | ss3636016298 | Oct 11, 2018 (152) |
| 125 | ILLUMINA | ss3637041949 | Oct 11, 2018 (152) |
| 126 | ILLUMINA | ss3637774879 | Oct 11, 2018 (152) |
| 127 | ILLUMINA | ss3638905545 | Oct 11, 2018 (152) |
| 128 | ILLUMINA | ss3639450702 | Oct 11, 2018 (152) |
| 129 | ILLUMINA | ss3640046187 | Oct 11, 2018 (152) |
| 130 | ILLUMINA | ss3640046188 | Oct 11, 2018 (152) |
| 131 | ILLUMINA | ss3642785118 | Oct 11, 2018 (152) |
| 132 | ILLUMINA | ss3644498614 | Oct 11, 2018 (152) |
| 133 | ILLUMINA | ss3644498615 | Oct 11, 2018 (152) |
| 134 | OMUKHERJEE_ADBS | ss3646233659 | Oct 11, 2018 (152) |
| 135 | ILLUMINA | ss3651443761 | Oct 11, 2018 (152) |
| 136 | ILLUMINA | ss3651443762 | Oct 11, 2018 (152) |
| 137 | ILLUMINA | ss3653640193 | Oct 11, 2018 (152) |
| 138 | EGCUT_WGS | ss3655369983 | Jul 12, 2019 (153) |
| 139 | EVA_DECODE | ss3687344429 | Jul 12, 2019 (153) |
| 140 | ILLUMINA | ss3725047465 | Jul 12, 2019 (153) |
| 141 | ACPOP | ss3727303450 | Jul 12, 2019 (153) |
| 142 | ILLUMINA | ss3744050854 | Jul 12, 2019 (153) |
| 143 | ILLUMINA | ss3744348657 | Jul 12, 2019 (153) |
| 144 | ILLUMINA | ss3744639799 | Jul 12, 2019 (153) |
| 145 | ILLUMINA | ss3744639800 | Jul 12, 2019 (153) |
| 146 | EVA | ss3746560039 | Jul 12, 2019 (153) |
| 147 | PAGE_CC | ss3770827490 | Jul 12, 2019 (153) |
| 148 | ILLUMINA | ss3772141036 | Jul 12, 2019 (153) |
| 149 | ILLUMINA | ss3772141037 | Jul 12, 2019 (153) |
| 150 | PACBIO | ss3783493031 | Jul 12, 2019 (153) |
| 151 | PACBIO | ss3789138511 | Jul 12, 2019 (153) |
| 152 | PACBIO | ss3794011350 | Jul 12, 2019 (153) |
| 153 | KHV_HUMAN_GENOMES | ss3799561067 | Jul 12, 2019 (153) |
| 154 | EVA | ss3823633640 | Apr 25, 2020 (154) |
| 155 | EVA | ss3825570064 | Apr 25, 2020 (154) |
| 156 | EVA | ss3826320561 | Apr 25, 2020 (154) |
| 157 | EVA | ss3836550429 | Apr 25, 2020 (154) |
| 158 | HGDP | ss3847343379 | Apr 25, 2020 (154) |
| 159 | SGDP_PRJ | ss3849454205 | Apr 25, 2020 (154) |
| 160 | KRGDB | ss3894529555 | Apr 25, 2020 (154) |
| 161 | KOGIC | ss3945070587 | Apr 25, 2020 (154) |
| 162 | FSA-LAB | ss3983938279 | Apr 25, 2021 (155) |
| 163 | FSA-LAB | ss3983938280 | Apr 25, 2021 (155) |
| 164 | EVA | ss3984814330 | Apr 25, 2021 (155) |
| 165 | EVA | ss3986011497 | Apr 25, 2021 (155) |
| 166 | EVA | ss3986128476 | Apr 25, 2021 (155) |
| 167 | EVA | ss4016927154 | Apr 25, 2021 (155) |
| 168 | TOPMED | ss4460262111 | Apr 25, 2021 (155) |
| 169 | EVA | ss6208448690 | Nov 02, 2024 (157) |
| 170 | EVA | ss6284046163 | Nov 02, 2024 (157) |
| 171 | EVA | ss6321858182 | Nov 02, 2024 (157) |
| 172 | EVA | ss6322091923 | Nov 02, 2024 (157) |
| 173 | EVA | ss6322917694 | Nov 02, 2024 (157) |
| 174 | YEGNASUBRAMANIAN_LAB | ss6334275283 | Nov 02, 2024 (157) |
| 175 | EVA | ss6349481189 | Nov 02, 2024 (157) |
| 176 | EVA | ss6350002948 | Nov 02, 2024 (157) |
| 177 | EVA | ss6350119865 | Nov 02, 2024 (157) |
| 178 | EVA | ss6350119866 | Nov 02, 2024 (157) |
| 179 | EVA | ss6350119867 | Nov 02, 2024 (157) |
| 180 | EVA | ss6350119868 | Nov 02, 2024 (157) |
| 181 | EVA | ss6350119869 | Nov 02, 2024 (157) |
| 182 | EVA | ss6350119870 | Nov 02, 2024 (157) |
| 183 | EVA | ss6350119871 | Nov 02, 2024 (157) |
| 184 | EVA | ss6350119872 | Nov 02, 2024 (157) |
| 185 | EVA | ss6350119873 | Nov 02, 2024 (157) |
| 186 | EVA | ss6350119874 | Nov 02, 2024 (157) |
| 187 | KOGIC | ss6352008940 | Nov 02, 2024 (157) |
| 188 | EVA | ss6403965908 | Nov 02, 2024 (157) |
| 189 | EVA | ss6404017305 | Nov 02, 2024 (157) |
| 190 | EVA | ss6404439763 | Nov 02, 2024 (157) |
| 191 | EVA | ss6404635376 | Nov 02, 2024 (157) |
| 192 | GNOMAD | ss6407784898 | Nov 02, 2024 (157) |
| 193 | GNOMAD | ss6495028518 | Nov 02, 2024 (157) |
| 194 | TOMMO_GENOMICS | ss8145261314 | Nov 02, 2024 (157) |
| 195 | EVA | ss8236871149 | Nov 02, 2024 (157) |
| 196 | EVA | ss8237632443 | Nov 02, 2024 (157) |
| 197 | 1000G_HIGH_COVERAGE | ss8243281733 | Nov 02, 2024 (157) |
| 198 | TRAN_CS_UWATERLOO | ss8314396351 | Nov 02, 2024 (157) |
| 199 | EVA | ss8314637294 | Nov 02, 2024 (157) |
| 200 | EVA | ss8320597123 | Nov 02, 2024 (157) |
| 201 | HUGCELL_USP | ss8444237812 | Nov 02, 2024 (157) |
| 202 | EVA | ss8505960701 | Nov 02, 2024 (157) |
| 203 | EVA | ss8512473835 | Nov 02, 2024 (157) |
| 204 | 1000G_HIGH_COVERAGE | ss8516100705 | Nov 02, 2024 (157) |
| 205 | EVA | ss8623915370 | Nov 02, 2024 (157) |
| 206 | EVA | ss8623994847 | Nov 02, 2024 (157) |
| 207 | SANFORD_IMAGENETICS | ss8624212944 | Nov 02, 2024 (157) |
| 208 | SANFORD_IMAGENETICS | ss8626109149 | Nov 02, 2024 (157) |
| 209 | TOMMO_GENOMICS | ss8670406454 | Nov 02, 2024 (157) |
| 210 | EVA | ss8799493221 | Nov 02, 2024 (157) |
| 211 | EVA | ss8800046507 | Nov 02, 2024 (157) |
| 212 | EVA | ss8800083419 | Nov 02, 2024 (157) |
| 213 | YY_MCH | ss8800850161 | Nov 02, 2024 (157) |
| 214 | EVA | ss8832356017 | Nov 02, 2024 (157) |
| 215 | EVA | ss8847163617 | Nov 02, 2024 (157) |
| 216 | EVA | ss8847548256 | Nov 02, 2024 (157) |
| 217 | EVA | ss8848266018 | Nov 02, 2024 (157) |
| 218 | EVA | ss8849028957 | Nov 02, 2024 (157) |
| 219 | EVA | ss8909426325 | Nov 02, 2024 (157) |
| 220 | EVA | ss8936510869 | Nov 02, 2024 (157) |
| 221 | EVA | ss8937968464 | Nov 02, 2024 (157) |
| 222 | EVA | ss8979283199 | Nov 02, 2024 (157) |
| 223 | EVA | ss8979973389 | Nov 02, 2024 (157) |
| 224 | EVA | ss8981195254 | Nov 02, 2024 (157) |
| 225 | EVA | ss8981422810 | Nov 02, 2024 (157) |
| 226 | EVA | ss8981700545 | Nov 02, 2024 (157) |
| 227 | EVA | ss8981700546 | Nov 02, 2024 (157) |
| 228 | LNCC-LABINFO | ss8982072046 | Nov 02, 2024 (157) |
| 229 | EVA | ss8982330943 | Nov 02, 2024 (157) |
| 230 | TOMMO_GENOMICS | ss8989755378 | Nov 02, 2024 (157) |
| 231 | 1000Genomes_30X | NC_000001.11 - 97883329 | Nov 02, 2024 (157) |
| 232 | gnomAD v4 - Exomes | NC_000001.11 - 97883329 | Nov 02, 2024 (157) |
| 233 | gnomAD v4 - Genomes | NC_000001.11 - 97883329 | Nov 02, 2024 (157) |
| 234 | HapMap | NC_000001.11 - 97883329 | Apr 25, 2020 (154) |
| 235 | Korean Genome Project | NC_000001.11 - 97883329 | Apr 25, 2020 (154) |
| 236 | Korean Genome Project 4K | NC_000001.11 - 97883329 | Nov 02, 2024 (157) |
| 237 | The PAGE Study | NC_000001.11 - 97883329 | Jul 12, 2019 (153) |
| 238 | PharmGKB Aggregated | NC_000001.11 - 97883329 | Apr 25, 2020 (154) |
| 239 | 38KJPN | NC_000001.11 - 97883329 | Nov 02, 2024 (157) |
| 240 | TopMed | NC_000001.11 - 97883329 | Apr 25, 2021 (155) |
| 241 | ALFA | NC_000001.11 - 97883329 | Nov 02, 2024 (157) |
| 242 | ClinVar | RCV000000464.11 | Nov 02, 2024 (157) |
| 243 | ClinVar | RCV000086506.16 | Nov 02, 2024 (157) |
| 244 | ClinVar | RCV000711510.14 | Nov 02, 2024 (157) |
| 245 | ClinVar | RCV001787362.10 | Nov 02, 2024 (157) |
| 246 | ClinVar | RCV001787363.10 | Nov 02, 2024 (157) |
| 247 | ClinVar | RCV002247229.9 | 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) |
|---|---|
| rs3211355 | Dec 16, 2002 (110) |
| rs52823090 | Sep 21, 2007 (128) |
| rs57596852 | May 23, 2008 (130) |
| rs199469510 | Dec 28, 2011 (136) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss6349481189 | NC_000001.10:98348884:G:C | NC_000001.11:97883328:A:C | |
| ss3638905545, ss3639450702 | NC_000001.8:98060905:G:G | NC_000001.11:97883328:A:G | (self) |
| ss87649486, ss108443064, ss118912224, ss164851465, ss166891690, ss198818800, ss205077631, ss210595351, ss253307169, ss275941000, ss290578287, ss480300968, ss491598697, ss825424782, ss1397254829, ss1584847786, ss1712356314, ss2635001480, ss3642785118, ss3847343379 | NC_000001.9:98121472:G:G | NC_000001.11:97883328:A:G | (self) |
| ss218542454, ss230651963, ss238320165, ss341976740, ss480312083, ss481067859, ss484948297, ss489753637, ss491297133, ss536992448, ss554469283, ss648245423, ss778467827, ss780879395, ss782920456, ss783564991, ss783883483, ss832175583, ss832841815, ss833923586, ss974436258, ss975470032, ss1067423571, ss1068118573, ss1292060303, ss1425907812, ss1574261742, ss1584009489, ss1600791226, ss1643785259, ss1685650516, ss1710913179, ss1751941450, ss1751941451, ss1794790953, ss1917731629, ss1918670304, ss1946002654, ss1946002655, ss1958296165, ss1958296166, ss1966817815, ss2019856276, ss2094783952, ss2094968449, ss2147875135, ss2624439680, ss2632552296, ss2632552297, ss2697802358, ss2710678089, ss2731657823, ss2746378715, ss2758501913, ss2984868301, ss2985519727, ss2987286767, ss3021113078, ss3021113079, ss3029637216, ss3343590342, ss3625545964, ss3626162896, ss3626162897, ss3630586518, ss3632902887, ss3633597875, ss3634338827, ss3634338828, ss3635291498, ss3636016298, ss3637041949, ss3637774879, ss3640046187, ss3640046188, ss3644498614, ss3644498615, ss3646233659, ss3651443761, ss3651443762, ss3653640193, ss3655369983, ss3727303450, ss3744050854, ss3744348657, ss3744639799, ss3744639800, ss3746560039, ss3772141036, ss3772141037, ss3783493031, ss3789138511, ss3794011350, ss3823633640, ss3825570064, ss3826320561, ss3836550429, ss3849454205, ss3894529555, ss3983938279, ss3983938280, ss3984814330, ss3986011497, ss3986128476, ss4016927154, ss6208448690, ss6284046163, ss6322091923, ss6322917694, ss6334275283, ss6349481189, ss6350002948, ss6403965908, ss6404439763, ss6404635376, ss8145261314, ss8314637294, ss8320597123, ss8505960701, ss8512473835, ss8623915370, ss8623994847, ss8624212944, ss8626109149, ss8799493221, ss8800046507, ss8800083419, ss8832356017, ss8847163617, ss8847548256, ss8848266018, ss8936510869, ss8937968464, ss8979283199, ss8979973389, ss8981195254, ss8981422810, ss8981700545, ss8981700546, ss8982330943 | NC_000001.10:98348884:G:G | NC_000001.11:97883328:A:G | (self) |
| RCV000000464.11, RCV000711510.14, RCV001787362.10, RCV001787363.10, RCV002247229.9, 3626640, 3083232, 21343316, 133954, 1448588, 1860838, 48959, 323, 7131198, 23868446, 7732843358, ss169608554, ss275517599, ss2164929388, ss3023691798, ss3687344429, ss3725047465, ss3770827490, ss3799561067, ss3945070587, ss4460262111, ss6321858182, ss6350119865, ss6350119866, ss6350119867, ss6350119868, ss6350119869, ss6350119870, ss6350119871, ss6350119872, ss6350119873, ss6350119874, ss6352008940, ss6404017305, ss6407784898, ss6495028518, ss8236871149, ss8237632443, ss8243281733, ss8314396351, ss8444237812, ss8516100705, ss8670406454, ss8800850161, ss8849028957, ss8909426325, ss8982072046, ss8989755378 | NC_000001.11:97883328:A:G | NC_000001.11:97883328:A:G | (self) |
| ss19100782, ss20497211 | NT_028050.13:6537828:G:G | NC_000001.11:97883328:A:G | (self) |
| ss76885934 | NT_032977.8:68320803:G:G | NC_000001.11:97883328:A:G | (self) |
| ss2421504, ss4442153, ss23739939, ss66641157, ss67197058, ss67586072, ss68775114, ss70675268, ss71238282, ss74817211, ss75540740, ss76875560, ss79094264, ss83877660, ss84156610, ss86342034, ss97960568, ss106588809, ss121814372, ss138043241, ss138845666, ss153736710, ss155399922, ss159329806, ss159698110, ss160463016, ss170815672, ss172925455 | NT_032977.9:68320802:G:G | NC_000001.11:97883328:A:G | (self) |
| ss6349481189, ss8512473835 | NC_000001.10:98348884:G:T | NC_000001.11:97883328: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.
34
citations for rs1801265
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 9266349 | Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene. | Vreken P 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 |
| 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 |
| 18381459 | Genetic variation in the one-carbon transfer pathway and ovarian cancer risk. | Kelemen LE et al. | 2008 | Cancer research |
| 19104657 | Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients. | Gross E et al. | 2008 | PloS one |
| 20570913 | Genetic variation in TYMS in the one-carbon transfer pathway is associated with ovarian carcinoma types in the Ovarian Cancer Association Consortium. | Kelemen LE et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
| 21472143 | Association between polymorphisms in cancer-related genes and early onset of esophageal adenocarcinoma. | Wu IC et al. | 2011 | Neoplasia (New York, N.Y.) |
| 23988873 | Clinical Pharmacogenetics Implementation Consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing. | Caudle KE et al. | 2013 | Clinical pharmacology and therapeutics |
| 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 |
| 26216193 | Genotype-phenotype correlations in 5-fluorouracil metabolism: a candidate DPYD haplotype to improve toxicity prediction. | Gentile G et al. | 2016 | The pharmacogenomics journal |
| 26785747 | Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan. | Iskakova AN et al. | 2016 | BMC genetics |
| 26858644 | Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling. | Chua EW et al. | 2016 | Frontiers in pharmacology |
| 27249515 | Evidence for extensive pleiotropy among pharmacogenes. | Oetjens MT et al. | 2016 | Pharmacogenomics |
| 28618970 | Letter regarding Zhao et al. entitled " DPYD gene polymorphisms are associated with risk and chemotherapy prognosis in pediatric patients with acute lymphoblastic leukemia". | Deenen MJ et al. | 2017 | Tumour biology |
| 28679691 | Metastatic triple-negative breast cancer patient with TP53 tumor mutation experienced 11 months progression-free survival on bortezomib monotherapy without adverse events after ending standard treatments with grade 3 adverse events. | Meißner T et al. | 2017 | Cold Spring Harbor molecular case studies |
| 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 |
| 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 |
| 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 |
| 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 |
| 33569925 | Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects. | Padula AM et al. | 2021 | Birth defects research |
| 34429635 | Population Genetic Difference of Pharmacogenomic VIP Variants in the Tibetan Population. | He C et al. | 2021 | Pharmacogenomics and personalized medicine |
| 34621706 | Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform. | Kim B et al. | 2021 | Translational and clinical pharmacology |
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| 34798807 | Genetic analysis of pharmacogenomic VIP variants in the Wa population from Yunnan Province of China. | Li D et al. | 2021 | BMC genomic data |
| 34949935 | Genetic Polymorphisms of Very Important Pharmacogene Variants in the Blang Population from Yunnan Province in China. | Wang Y et al. | 2021 | Pharmacogenomics and personalized medicine |
| 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.) |
| 35749156 | Type 2 diabetes: an exploratory genetic association analysis of selected metabolizing enzymes and transporters and effects on cardiovascular and renal biomarkers. | Fankhouser RW et al. | 2022 | Drug metabolism and personalized therapy |
| 35846994 | Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing. | Silgado-Guzmán DF et al. | 2022 | Frontiers in pharmacology |
| 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 |
| 37835382 | Genetic Variants as Predictors of the Success of Colorectal Cancer Treatments. | Garcia-Etxebarria K et al. | 2023 | Cancers |
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.