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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1801267

Current Build 157

Released September 3, 2024

Organism
Homo sapiens
Position
chr1:97098598 (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=0.000026 (7/264690, TOPMED)
T=0.000037 (7/190518, ALFA)
T=0.000034 (5/149074, GnomAD_genomes) (+ 4 more)
T=0.000041 (5/120546, ExAC)
T=0.00000 (0/78702, PAGE_STUDY)
T=0.0002 (1/6404, 1000G_30X)
T=0.0002 (1/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
DPYD : Missense Variant
DPYD-AS1 : Intron Variant
Publications
5 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 190518 C=0.999963 T=0.000037 0.999927 0.0 7.3e-05 0
European Sub 166508 C=0.999976 T=0.000024 0.999952 0.0 0.000048 0
African Sub 7752 C=0.9997 T=0.0003 0.999484 0.0 0.000516 0
African Others Sub 272 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 7480 C=0.9997 T=0.0003 0.999465 0.0 0.000535 0
Asian Sub 3696 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
East Asian Sub 2978 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Other Asian Sub 718 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 1 Sub 792 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 1140 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
South Asian Sub 328 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Other Sub 10302 C=0.99990 T=0.00010 0.999806 0.0 0.000194 0


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.999974 T=0.000026
Allele Frequency Aggregator Total Global 190518 C=0.999963 T=0.000037
Allele Frequency Aggregator European Sub 166508 C=0.999976 T=0.000024
Allele Frequency Aggregator Other Sub 10302 C=0.99990 T=0.00010
Allele Frequency Aggregator African Sub 7752 C=0.9997 T=0.0003
Allele Frequency Aggregator Asian Sub 3696 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 1140 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 792 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 328 C=1.000 T=0.000
gnomAD v4 - Genomes Global Study-wide 149074 C=0.999966 T=0.000034
gnomAD v4 - Genomes European Sub 78550 C=0.99999 T=0.00001
gnomAD v4 - Genomes African Sub 41520 C=0.99993 T=0.00007
gnomAD v4 - Genomes American Sub 15258 C=1.00000 T=0.00000
gnomAD v4 - Genomes East Asian Sub 5156 C=1.0000 T=0.0000
gnomAD v4 - Genomes South Asian Sub 4826 C=0.9998 T=0.0002
gnomAD v4 - Genomes Ashkenazi Jewish Sub 3470 C=1.0000 T=0.0000
gnomAD v4 - Genomes Middle Eastern sub 294 C=1.000 T=0.000
ExAC Global Study-wide 120546 C=0.999959 T=0.000041
ExAC Europe Sub 72840 C=0.99999 T=0.00001
ExAC Asian Sub 25042 C=0.99984 T=0.00016
ExAC American Sub 11408 C=1.00000 T=0.00000
ExAC African Sub 10356 C=1.00000 T=0.00000
ExAC Other Sub 900 C=1.000 T=0.000
The PAGE Study Global Study-wide 78702 C=1.00000 T=0.00000
The PAGE Study AfricanAmerican Sub 32516 C=1.00000 T=0.00000
The PAGE Study Mexican Sub 10810 C=1.00000 T=0.00000
The PAGE Study Asian Sub 8318 C=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7918 C=1.0000 T=0.0000
The PAGE Study NativeHawaiian Sub 4534 C=1.0000 T=0.0000
The PAGE Study Cuban Sub 4230 C=1.0000 T=0.0000
The PAGE Study Dominican Sub 3828 C=1.0000 T=0.0000
The PAGE Study CentralAmerican Sub 2450 C=1.0000 T=0.0000
The PAGE Study SouthAmerican Sub 1982 C=1.0000 T=0.0000
The PAGE Study NativeAmerican Sub 1260 C=1.0000 T=0.0000
The PAGE Study SouthAsian Sub 856 C=1.000 T=0.000
1000Genomes_30X Global Study-wide 6404 C=0.9998 T=0.0002
1000Genomes_30X African Sub 1786 C=1.0000 T=0.0000
1000Genomes_30X Europe Sub 1266 C=1.0000 T=0.0000
1000Genomes_30X South Asian Sub 1202 C=0.9992 T=0.0008
1000Genomes_30X East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30X American Sub 980 C=1.000 T=0.000
1000Genomes Global Study-wide 5008 C=0.9998 T=0.0002
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=1.0000 T=0.0000
1000Genomes South Asian Sub 978 C=0.999 T=0.001
1000Genomes American Sub 694 C=1.000 T=0.000
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.97098598C>A
GRCh38.p14 chr 1 NC_000001.11:g.97098598C>G
GRCh38.p14 chr 1 NC_000001.11:g.97098598C>T
GRCh37.p13 chr 1 NC_000001.10:g.97564154C>A
GRCh37.p13 chr 1 NC_000001.10:g.97564154C>G
GRCh37.p13 chr 1 NC_000001.10:g.97564154C>T
DPYD RefSeqGene (LRG_722) NG_008807.2:g.827462G>T
DPYD RefSeqGene (LRG_722) NG_008807.2:g.827462G>C
DPYD RefSeqGene (LRG_722) NG_008807.2:g.827462G>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.2657G>T R [CGC] > L [CTC] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 NP_000101.2:p.Arg886Leu R (Arg) > L (Leu) Missense Variant
DPYD transcript variant 1 NM_000110.4:c.2657G>C R [CGC] > P [CCC] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 NP_000101.2:p.Arg886Pro R (Arg) > P (Pro) Missense Variant
DPYD transcript variant 1 NM_000110.4:c.2657G>A R [CGC] > H [CAC] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 NP_000101.2:p.Arg886His R (Arg) > H (His) Missense Variant
DPYD transcript variant X5 XM_006710397.4:c. N/A Genic Downstream Transcript Variant
DPYD transcript variant X2 XM_005270562.3:c.2441G>T R [CGC] > L [CTC] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2 XP_005270619.2:p.Arg814Leu R (Arg) > L (Leu) Missense Variant
DPYD transcript variant X2 XM_005270562.3:c.2441G>C R [CGC] > P [CCC] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2 XP_005270619.2:p.Arg814Pro R (Arg) > P (Pro) Missense Variant
DPYD transcript variant X2 XM_005270562.3:c.2441G>A R [CGC] > H [CAC] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2 XP_005270619.2:p.Arg814His R (Arg) > H (His) Missense Variant
DPYD transcript variant X1 XM_017000507.2:c.2546G>T R [CGC] > L [CTC] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1 XP_016855996.1:p.Arg849Leu R (Arg) > L (Leu) Missense Variant
DPYD transcript variant X1 XM_017000507.2:c.2546G>C R [CGC] > P [CCC] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1 XP_016855996.1:p.Arg849Pro R (Arg) > P (Pro) Missense Variant
DPYD transcript variant X1 XM_017000507.2:c.2546G>A R [CGC] > H [CAC] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1 XP_016855996.1:p.Arg849His R (Arg) > H (His) Missense Variant
DPYD transcript variant X3 XM_047448076.1:c.2429G>T R [CGC] > L [CTC] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3 XP_047304032.1:p.Arg810Leu R (Arg) > L (Leu) Missense Variant
DPYD transcript variant X3 XM_047448076.1:c.2429G>C R [CGC] > P [CCC] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3 XP_047304032.1:p.Arg810Pro R (Arg) > P (Pro) Missense Variant
DPYD transcript variant X3 XM_047448076.1:c.2429G>A R [CGC] > H [CAC] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3 XP_047304032.1:p.Arg810His R (Arg) > H (His) Missense Variant
DPYD transcript variant X4 XM_047448077.1:c.2330G>T R [CGC] > L [CTC] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X4 XP_047304033.1:p.Arg777Leu R (Arg) > L (Leu) Missense Variant
DPYD transcript variant X4 XM_047448077.1:c.2330G>C R [CGC] > P [CCC] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X4 XP_047304033.1:p.Arg777Pro R (Arg) > P (Pro) Missense Variant
DPYD transcript variant X4 XM_047448077.1:c.2330G>A R [CGC] > H [CAC] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X4 XP_047304033.1:p.Arg777His R (Arg) > H (His) Missense Variant
DPYD transcript variant X6 XR_001737014.2:n. N/A Genic Downstream Transcript Variant
Gene: DPYD-AS1, DPYD antisense RNA 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DPYD-AS1 transcript NR_046590.1:n. N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: T (allele ID: 15476 )
ClinVar Accession Disease Names Clinical Significance
RCV000000466.4 Dihydropyrimidine dehydrogenase deficiency Uncertain-Significance
RCV002281683.1 not specified Uncertain-Significance
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.97098598= NC_000001.11:g.97098598C>A NC_000001.11:g.97098598C>G NC_000001.11:g.97098598C>T
GRCh37.p13 chr 1 NC_000001.10:g.97564154= NC_000001.10:g.97564154C>A NC_000001.10:g.97564154C>G NC_000001.10:g.97564154C>T
DPYD RefSeqGene (LRG_722) NG_008807.2:g.827462= NG_008807.2:g.827462G>T NG_008807.2:g.827462G>C NG_008807.2:g.827462G>A
DPYD transcript variant 1 NM_000110.4:c.2657= NM_000110.4:c.2657G>T NM_000110.4:c.2657G>C NM_000110.4:c.2657G>A
DPYD transcript variant 1 NM_000110.3:c.2657= NM_000110.3:c.2657G>T NM_000110.3:c.2657G>C NM_000110.3:c.2657G>A
DPYD transcript variant X2 XM_005270562.3:c.2441= XM_005270562.3:c.2441G>T XM_005270562.3:c.2441G>C XM_005270562.3:c.2441G>A
DPYD transcript variant X2 XM_005270562.2:c.2441= XM_005270562.2:c.2441G>T XM_005270562.2:c.2441G>C XM_005270562.2:c.2441G>A
DPYD transcript variant X2 XM_005270562.1:c.2441= XM_005270562.1:c.2441G>T XM_005270562.1:c.2441G>C XM_005270562.1:c.2441G>A
DPYD transcript variant X1 XM_017000507.2:c.2546= XM_017000507.2:c.2546G>T XM_017000507.2:c.2546G>C XM_017000507.2:c.2546G>A
DPYD transcript variant X1 XM_017000507.1:c.2546= XM_017000507.1:c.2546G>T XM_017000507.1:c.2546G>C XM_017000507.1:c.2546G>A
DPYD transcript variant X3 XM_047448076.1:c.2429= XM_047448076.1:c.2429G>T XM_047448076.1:c.2429G>C XM_047448076.1:c.2429G>A
DPYD transcript variant X4 XM_047448077.1:c.2330= XM_047448077.1:c.2330G>T XM_047448077.1:c.2330G>C XM_047448077.1:c.2330G>A
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 NP_000101.2:p.Arg886= NP_000101.2:p.Arg886Leu NP_000101.2:p.Arg886Pro NP_000101.2:p.Arg886His
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2 XP_005270619.2:p.Arg814= XP_005270619.2:p.Arg814Leu XP_005270619.2:p.Arg814Pro XP_005270619.2:p.Arg814His
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1 XP_016855996.1:p.Arg849= XP_016855996.1:p.Arg849Leu XP_016855996.1:p.Arg849Pro XP_016855996.1:p.Arg849His
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3 XP_047304032.1:p.Arg810= XP_047304032.1:p.Arg810Leu XP_047304032.1:p.Arg810Pro XP_047304032.1:p.Arg810His
dihydropyrimidine dehydrogenase [NADP(+)] isoform X4 XP_047304033.1:p.Arg777= XP_047304033.1:p.Arg777Leu XP_047304033.1:p.Arg777Pro XP_047304033.1:p.Arg777His
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2 XP_005270619.1:p.Arg814= XP_005270619.1:p.Arg814Leu XP_005270619.1:p.Arg814Pro XP_005270619.1:p.Arg814His
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#.

58 SubSNP, 11 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2421506 Nov 14, 2000 (89)
2 ILLUMINA ss75257885 Dec 07, 2007 (129)
3 KRIBB_YJKIM ss119404011 Dec 01, 2009 (131)
4 ILLUMINA ss160463018 Dec 01, 2009 (131)
5 OMICIA ss169609616 Aug 28, 2012 (137)
6 ILLUMINA ss172925463 Jul 04, 2010 (132)
7 OMIM-CURATED-RECORDS ss275517600 Oct 18, 2012 (137)
8 ILLUMINA ss481067867 Sep 08, 2015 (146)
9 EXOME_CHIP ss491297101 May 04, 2012 (137)
10 ILLUMINA ss536992450 Sep 08, 2015 (146)
11 ILLUMINA ss780879207 Sep 08, 2015 (146)
12 ILLUMINA ss783564799 Sep 08, 2015 (146)
13 1000GENOMES ss1292039145 Aug 21, 2014 (142)
14 EVA_EXAC ss1685649699 Apr 01, 2015 (144)
15 ILLUMINA ss1751940661 Sep 08, 2015 (146)
16 ILLUMINA ss1917731597 Feb 12, 2016 (147)
17 ILLUMINA ss1946002536 Feb 12, 2016 (147)
18 ILLUMINA ss1958295836 Feb 12, 2016 (147)
19 ILLUMINA ss2632551319 Nov 08, 2017 (151)
20 GNOMAD ss2731656598 Nov 08, 2017 (151)
21 GNOMAD ss2746378346 Nov 08, 2017 (151)
22 GNOMAD ss2758438858 Nov 08, 2017 (151)
23 AFFY ss2984868199 Nov 08, 2017 (151)
24 AFFY ss2985519627 Nov 08, 2017 (151)
25 ILLUMINA ss3021112695 Nov 08, 2017 (151)
26 ILLUMINA ss3626161372 Oct 11, 2018 (152)
27 ILLUMINA ss3626161373 Oct 11, 2018 (152)
28 ILLUMINA ss3634338134 Oct 11, 2018 (152)
29 ILLUMINA ss3636015537 Oct 11, 2018 (152)
30 ILLUMINA ss3637774061 Oct 11, 2018 (152)
31 ILLUMINA ss3640045494 Oct 11, 2018 (152)
32 ILLUMINA ss3642784331 Oct 11, 2018 (152)
33 ILLUMINA ss3644498497 Oct 11, 2018 (152)
34 ILLUMINA ss3651443313 Oct 11, 2018 (152)
35 ILLUMINA ss3653640064 Oct 11, 2018 (152)
36 ILLUMINA ss3725047105 Jul 12, 2019 (153)
37 ILLUMINA ss3744348622 Jul 12, 2019 (153)
38 ILLUMINA ss3744639107 Jul 12, 2019 (153)
39 EVA ss3746553962 Jul 12, 2019 (153)
40 PAGE_CC ss3770827227 Jul 12, 2019 (153)
41 ILLUMINA ss3772140346 Jul 12, 2019 (153)
42 EVA ss4016926478 Apr 25, 2021 (155)
43 TOPMED ss4460061074 Apr 25, 2021 (155)
44 EVA ss6208427667 Nov 02, 2024 (157)
45 EVA ss6284035916 Nov 02, 2024 (157)
46 EVA ss6349480999 Nov 02, 2024 (157)
47 GNOMAD ss6407777629 Nov 02, 2024 (157)
48 GNOMAD ss6407777630 Nov 02, 2024 (157)
49 GNOMAD ss6494851973 Nov 02, 2024 (157)
50 TOMMO_GENOMICS ss8145237079 Nov 02, 2024 (157)
51 EVA ss8320562507 Nov 02, 2024 (157)
52 1000G_HIGH_COVERAGE ss8516071820 Nov 02, 2024 (157)
53 TOMMO_GENOMICS ss8670375451 Nov 02, 2024 (157)
54 EVA ss8847548055 Nov 02, 2024 (157)
55 EVA ss8909405046 Nov 02, 2024 (157)
56 EVA ss8937957604 Nov 02, 2024 (157)
57 TOMMO_GENOMICS ss8989704266 Nov 02, 2024 (157)
58 TOMMO_GENOMICS ss8989704267 Nov 02, 2024 (157)
59 1000Genomes NC_000001.10 - 97564154 Oct 11, 2018 (152)
60 1000Genomes_30X NC_000001.11 - 97098598 Nov 02, 2024 (157)
61 ExAC NC_000001.10 - 97564154 Oct 11, 2018 (152)
62 gnomAD v4 - Exomes

Submission ignored due to conflicting rows:
Row 3075961 (NC_000001.11:97098597:C:A 1/1400524)
Row 3075962 (NC_000001.11:97098597:C:T 23/1400524)

- Nov 02, 2024 (157)
63 gnomAD v4 - Exomes

Submission ignored due to conflicting rows:
Row 3075961 (NC_000001.11:97098597:C:A 1/1400524)
Row 3075962 (NC_000001.11:97098597:C:T 23/1400524)

- Nov 02, 2024 (157)
64 gnomAD v4 - Genomes NC_000001.11 - 97098598 Nov 02, 2024 (157)
65 The PAGE Study NC_000001.11 - 97098598 Jul 12, 2019 (153)
66 38KJPN

Submission ignored due to conflicting rows:
Row 7080086 (NC_000001.11:97098597:C:T 1/77344)
Row 7080087 (NC_000001.11:97098597:C:A 1/77344)

- Nov 02, 2024 (157)
67 38KJPN

Submission ignored due to conflicting rows:
Row 7080086 (NC_000001.11:97098597:C:T 1/77344)
Row 7080087 (NC_000001.11:97098597:C:A 1/77344)

- Nov 02, 2024 (157)
68 TopMed NC_000001.11 - 97098598 Apr 25, 2021 (155)
69 ALFA NC_000001.11 - 97098598 Nov 02, 2024 (157)
70 ClinVar RCV000000466.4 Nov 02, 2024 (157)
71 ClinVar RCV002281683.1 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)
rs386545628 Aug 06, 2014 (136)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss6407777629, ss8989704267 NC_000001.11:97098597:C:A NC_000001.11:97098597:C:A
ss6349480999 NC_000001.10:97564153:C:G NC_000001.11:97098597:C:G
ss3642784331 NC_000001.9:97336741:C:T NC_000001.11:97098597:C:T (self)
2800396, 4855590, ss481067867, ss491297101, ss536992450, ss780879207, ss783564799, ss1292039145, ss1685649699, ss1751940661, ss1917731597, ss1946002536, ss1958295836, ss2632551319, ss2731656598, ss2746378346, ss2758438858, ss2984868199, ss2985519627, ss3021112695, ss3626161372, ss3626161373, ss3634338134, ss3636015537, ss3637774061, ss3640045494, ss3644498497, ss3651443313, ss3653640064, ss3744348622, ss3744639107, ss3746553962, ss3772140346, ss4016926478, ss6208427667, ss6284035916, ss8145237079, ss8320562507, ss8847548055, ss8937957604 NC_000001.10:97564153:C:T NC_000001.11:97098597:C:T (self)
RCV000000466.4, RCV002281683.1, 3597755, 21166531, 48696, 23667409, 13020648631, ss169609616, ss275517600, ss3725047105, ss3770827227, ss4460061074, ss6407777630, ss6494851973, ss8516071820, ss8670375451, ss8909405046, ss8989704266 NC_000001.11:97098597:C:T NC_000001.11:97098597:C:T (self)
ss2421506, ss75257885, ss119404011, ss160463018, ss172925463 NT_032977.9:67536071:C:T NC_000001.11:97098597: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.

5 citations for rs1801267
PMID Title Author Year Journal
9439663 Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W. Vreken P et al. 1997 Human genetics
24944790 Screening for 392 polymorphisms in 141 pharmacogenes. Kim JY et al. 2014 Biomedical reports
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
34621706 Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform. Kim B et al. 2021 Translational and clinical pharmacology
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.

Software version is: 2.0.1.post825+45319f0