Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs1801158

Current Build 157

Released September 3, 2024

Organism
Homo sapiens
Position
chr1:97515865 (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=0.0192940 (27021/1400486, GnomAD_exomes)
T=0.013253 (3508/264690, TOPMED)
T=0.019724 (5117/259434, ALFA) (+ 20 more)
T=0.013735 (2047/149040, GnomAD_genomes)
T=0.014159 (1709/120704, ExAC)
T=0.00886 (697/78698, PAGE_STUDY)
T=0.01492 (194/13002, GO-ESP)
T=0.0109 (70/6404, 1000G_30X)
T=0.0096 (48/5008, 1000G)
T=0.0103 (46/4480, Estonian)
T=0.0202 (78/3854, ALSPAC)
T=0.0216 (80/3708, TWINSUK)
T=0.0000 (0/1832, Korea1K)
T=0.0248 (28/1130, Daghestan)
T=0.024 (24/998, GoNL)
T=0.008 (5/600, NorthernSweden)
T=0.019 (10/534, MGP)
T=0.008 (3/358, PharmGKB)
T=0.020 (6/304, FINRISK)
T=0.042 (9/216, Qatari)
T=0.05 (2/40, GENOME_DK)
C=0.50 (7/14, SGDP_PRJ)
T=0.50 (7/14, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
DPYD : Missense Variant
Publications
10 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 259434 C=0.980276 T=0.019724 0.961007 0.000455 0.038538 1
European Sub 214388 C=0.978684 T=0.021316 0.957843 0.000476 0.041681 0
African Sub 10320 C=0.99680 T=0.00320 0.993605 0.0 0.006395 0
African Others Sub 370 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 9950 C=0.9967 T=0.0033 0.993367 0.0 0.006633 0
Asian Sub 6434 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
East Asian Sub 4580 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Other Asian Sub 1854 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Latin American 1 Sub 892 C=0.983 T=0.017 0.966368 0.0 0.033632 0
Latin American 2 Sub 5152 C=0.9860 T=0.0140 0.972826 0.000776 0.026398 3
South Asian Sub 314 C=0.994 T=0.006 0.987261 0.0 0.012739 0
Other Sub 21934 C=0.98062 T=0.01938 0.961794 0.000547 0.037658 1


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
gnomAD v4 - Exomes Global Study-wide 1400486 C=0.9807060 T=0.0192940
gnomAD v4 - Exomes European Sub 1164682 C=0.9788663 T=0.0211337
gnomAD v4 - Exomes South Asian Sub 86240 C=0.99133 T=0.00867
gnomAD v4 - Exomes American Sub 44608 C=0.98798 T=0.01202
gnomAD v4 - Exomes East Asian Sub 39684 C=0.99995 T=0.00005
gnomAD v4 - Exomes African Sub 33428 C=0.99680 T=0.00320
gnomAD v4 - Exomes Ashkenazi Jewish Sub 26082 C=0.96841 T=0.03159
gnomAD v4 - Exomes Middle Eastern sub 5762 C=0.9670 T=0.0330
TopMed Global Study-wide 264690 C=0.986747 T=0.013253
Allele Frequency Aggregator Total Global 259434 C=0.980276 T=0.019724
Allele Frequency Aggregator European Sub 214388 C=0.978684 T=0.021316
Allele Frequency Aggregator Other Sub 21934 C=0.98062 T=0.01938
Allele Frequency Aggregator African Sub 10320 C=0.99680 T=0.00320
Allele Frequency Aggregator Asian Sub 6434 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 5152 C=0.9860 T=0.0140
Allele Frequency Aggregator Latin American 1 Sub 892 C=0.983 T=0.017
Allele Frequency Aggregator South Asian Sub 314 C=0.994 T=0.006
gnomAD v4 - Genomes Global Study-wide 149040 C=0.986265 T=0.013735
gnomAD v4 - Genomes European Sub 78522 C=0.98101 T=0.01899
gnomAD v4 - Genomes African Sub 41552 C=0.99605 T=0.00395
gnomAD v4 - Genomes American Sub 15236 C=0.98477 T=0.01523
gnomAD v4 - Genomes East Asian Sub 5144 C=0.9998 T=0.0002
gnomAD v4 - Genomes South Asian Sub 4822 C=0.9927 T=0.0073
gnomAD v4 - Genomes Ashkenazi Jewish Sub 3470 C=0.9669 T=0.0331
gnomAD v4 - Genomes Middle Eastern sub 294 C=0.969 T=0.031
ExAC Global Study-wide 120704 C=0.985841 T=0.014159
ExAC Europe Sub 72978 C=0.98060 T=0.01940
ExAC Asian Sub 25096 C=0.99430 T=0.00570
ExAC American Sub 11348 C=0.99092 T=0.00908
ExAC African Sub 10378 C=0.99643 T=0.00357
ExAC Other Sub 904 C=0.989 T=0.011
The PAGE Study Global Study-wide 78698 C=0.99114 T=0.00886
The PAGE Study AfricanAmerican Sub 32516 C=0.99656 T=0.00344
The PAGE Study Mexican Sub 10806 C=0.98473 T=0.01527
The PAGE Study Asian Sub 8318 C=0.9998 T=0.0002
The PAGE Study PuertoRican Sub 7918 C=0.9823 T=0.0177
The PAGE Study NativeHawaiian Sub 4534 C=0.9932 T=0.0068
The PAGE Study Cuban Sub 4230 C=0.9768 T=0.0232
The PAGE Study Dominican Sub 3828 C=0.9804 T=0.0196
The PAGE Study CentralAmerican Sub 2450 C=0.9865 T=0.0135
The PAGE Study SouthAmerican Sub 1982 C=0.9859 T=0.0141
The PAGE Study NativeAmerican Sub 1260 C=0.9937 T=0.0063
The PAGE Study SouthAsian Sub 856 C=0.994 T=0.006
GO Exome Sequencing Project Global Study-wide 13002 C=0.98508 T=0.01492
GO Exome Sequencing Project European American Sub 8596 C=0.9798 T=0.0202
GO Exome Sequencing Project African American Sub 4406 C=0.9955 T=0.0045
1000Genomes_30X Global Study-wide 6404 C=0.9891 T=0.0109
1000Genomes_30X African Sub 1786 C=0.9983 T=0.0017
1000Genomes_30X Europe Sub 1266 C=0.9621 T=0.0379
1000Genomes_30X South Asian Sub 1202 C=0.9950 T=0.0050
1000Genomes_30X East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30X American Sub 980 C=0.987 T=0.013
1000Genomes Global Study-wide 5008 C=0.9904 T=0.0096
1000Genomes African Sub 1322 C=0.9977 T=0.0023
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=0.9692 T=0.0308
1000Genomes South Asian Sub 978 C=0.995 T=0.005
1000Genomes American Sub 694 C=0.987 T=0.013
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9897 T=0.0103
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9798 T=0.0202
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9784 T=0.0216
Korean Genome Project KOREAN Study-wide 1832 C=1.0000 T=0.0000
Genome-wide autozygosity in Daghestan Global Study-wide 1130 C=0.9752 T=0.0248
Genome-wide autozygosity in Daghestan Daghestan Sub 624 C=0.968 T=0.032
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.979 T=0.021
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.992 T=0.008
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.963 T=0.037
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=1.00 T=0.00
Genome-wide autozygosity in Daghestan Caucasus Sub 34 C=1.00 T=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.976 T=0.024
Northern Sweden ACPOP Study-wide 600 C=0.992 T=0.008
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.981 T=0.019
PharmGKB Aggregated Global Study-wide 358 C=0.992 T=0.008
PharmGKB Aggregated PA149740050 Sub 358 C=0.992 T=0.008
FINRISK Finnish from FINRISK project Study-wide 304 C=0.980 T=0.020
Qatari Global Study-wide 216 C=0.958 T=0.042
The Danish reference pan genome Danish Study-wide 40 C=0.95 T=0.05
SGDP_PRJ Global Study-wide 14 C=0.50 T=0.50
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.97515865C>A
GRCh38.p14 chr 1 NC_000001.11:g.97515865C>G
GRCh38.p14 chr 1 NC_000001.11:g.97515865C>T
GRCh37.p13 chr 1 NC_000001.10:g.97981421C>A
GRCh37.p13 chr 1 NC_000001.10:g.97981421C>G
GRCh37.p13 chr 1 NC_000001.10:g.97981421C>T
DPYD RefSeqGene (LRG_722) NG_008807.2:g.410195G>T
DPYD RefSeqGene (LRG_722) NG_008807.2:g.410195G>C
DPYD RefSeqGene (LRG_722) NG_008807.2:g.410195G>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.1601G>T S [AGT] > I [ATT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 NP_000101.2:p.Ser534Ile S (Ser) > I (Ile) Missense Variant
DPYD transcript variant 1 NM_000110.4:c.1601G>C S [AGT] > T [ACT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 NP_000101.2:p.Ser534Thr S (Ser) > T (Thr) Missense Variant
DPYD transcript variant 1 NM_000110.4:c.1601G>A S [AGT] > N [AAT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 NP_000101.2:p.Ser534Asn S (Ser) > N (Asn) Missense Variant
DPYD transcript variant X2 XM_005270562.3:c.1524+336…

XM_005270562.3:c.1524+33695G>T

 		N/A Intron Variant
DPYD transcript variant X4 XM_047448077.1:c.1413+336…

XM_047448077.1:c.1413+33695G>T

 		N/A Intron Variant
DPYD transcript variant X1 XM_017000507.2:c.1490G>T S [AGT] > I [ATT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1 XP_016855996.1:p.Ser497Ile S (Ser) > I (Ile) Missense Variant
DPYD transcript variant X1 XM_017000507.2:c.1490G>C S [AGT] > T [ACT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1 XP_016855996.1:p.Ser497Thr S (Ser) > T (Thr) Missense Variant
DPYD transcript variant X1 XM_017000507.2:c.1490G>A S [AGT] > N [AAT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1 XP_016855996.1:p.Ser497Asn S (Ser) > N (Asn) Missense Variant
DPYD transcript variant X3 XM_047448076.1:c.1373G>T S [AGT] > I [ATT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3 XP_047304032.1:p.Ser458Ile S (Ser) > I (Ile) Missense Variant
DPYD transcript variant X3 XM_047448076.1:c.1373G>C S [AGT] > T [ACT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3 XP_047304032.1:p.Ser458Thr S (Ser) > T (Thr) Missense Variant
DPYD transcript variant X3 XM_047448076.1:c.1373G>A S [AGT] > N [AAT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3 XP_047304032.1:p.Ser458Asn S (Ser) > N (Asn) Missense Variant
DPYD transcript variant X5 XM_006710397.4:c.1601G>T S [AGT] > I [ATT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X5 XP_006710460.1:p.Ser534Ile S (Ser) > I (Ile) Missense Variant
DPYD transcript variant X5 XM_006710397.4:c.1601G>C S [AGT] > T [ACT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X5 XP_006710460.1:p.Ser534Thr S (Ser) > T (Thr) Missense Variant
DPYD transcript variant X5 XM_006710397.4:c.1601G>A S [AGT] > N [AAT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X5 XP_006710460.1:p.Ser534Asn S (Ser) > 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: T (allele ID: 105971 )
ClinVar Accession Disease Names Clinical Significance
RCV000086477.24 not provided Benign-Likely-Benign
RCV000249334.10 not specified Benign
RCV000603277.9 Dihydropyrimidine dehydrogenase deficiency Conflicting-Interpretations-Of-Pathogenicity
RCV001787909.3 capecitabine response - Toxicity Drug-Response
RCV001787910.3 fluorouracil response - Toxicity Drug-Response
RCV003891587.1 DPYD-related disorder 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 C= A G T
GRCh38.p14 chr 1 NC_000001.11:g.97515865= NC_000001.11:g.97515865C>A NC_000001.11:g.97515865C>G NC_000001.11:g.97515865C>T
GRCh37.p13 chr 1 NC_000001.10:g.97981421= NC_000001.10:g.97981421C>A NC_000001.10:g.97981421C>G NC_000001.10:g.97981421C>T
DPYD RefSeqGene (LRG_722) NG_008807.2:g.410195= NG_008807.2:g.410195G>T NG_008807.2:g.410195G>C NG_008807.2:g.410195G>A
DPYD transcript variant 1 NM_000110.4:c.1601= NM_000110.4:c.1601G>T NM_000110.4:c.1601G>C NM_000110.4:c.1601G>A
DPYD transcript variant 1 NM_000110.3:c.1601= NM_000110.3:c.1601G>T NM_000110.3:c.1601G>C NM_000110.3:c.1601G>A
DPYD transcript variant X5 XM_006710397.4:c.1601= XM_006710397.4:c.1601G>T XM_006710397.4:c.1601G>C XM_006710397.4:c.1601G>A
DPYD transcript variant X3 XM_006710397.3:c.1601= XM_006710397.3:c.1601G>T XM_006710397.3:c.1601G>C XM_006710397.3:c.1601G>A
DPYD transcript variant X2 XM_006710397.2:c.1601= XM_006710397.2:c.1601G>T XM_006710397.2:c.1601G>C XM_006710397.2:c.1601G>A
DPYD transcript variant X3 XM_006710397.1:c.1601= XM_006710397.1:c.1601G>T XM_006710397.1:c.1601G>C XM_006710397.1:c.1601G>A
DPYD transcript variant X1 XM_017000507.2:c.1490= XM_017000507.2:c.1490G>T XM_017000507.2:c.1490G>C XM_017000507.2:c.1490G>A
DPYD transcript variant X1 XM_017000507.1:c.1490= XM_017000507.1:c.1490G>T XM_017000507.1:c.1490G>C XM_017000507.1:c.1490G>A
DPYD transcript variant X3 XM_047448076.1:c.1373= XM_047448076.1:c.1373G>T XM_047448076.1:c.1373G>C XM_047448076.1:c.1373G>A
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 NP_000101.2:p.Ser534= NP_000101.2:p.Ser534Ile NP_000101.2:p.Ser534Thr NP_000101.2:p.Ser534Asn
dihydropyrimidine dehydrogenase [NADP(+)] isoform X5 XP_006710460.1:p.Ser534= XP_006710460.1:p.Ser534Ile XP_006710460.1:p.Ser534Thr XP_006710460.1:p.Ser534Asn
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1 XP_016855996.1:p.Ser497= XP_016855996.1:p.Ser497Ile XP_016855996.1:p.Ser497Thr XP_016855996.1:p.Ser497Asn
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3 XP_047304032.1:p.Ser458= XP_047304032.1:p.Ser458Ile XP_047304032.1:p.Ser458Thr XP_047304032.1:p.Ser458Asn
DPYD transcript variant X2 XM_005270562.1:c.1524+33695= XM_005270562.1:c.1524+33695G>T XM_005270562.1:c.1524+33695G>C XM_005270562.1:c.1524+33695G>A
DPYD transcript variant X2 XM_005270562.3:c.1524+33695= XM_005270562.3:c.1524+33695G>T XM_005270562.3:c.1524+33695G>C XM_005270562.3:c.1524+33695G>A
DPYD transcript variant X4 XM_047448077.1:c.1413+33695= XM_047448077.1:c.1413+33695G>T XM_047448077.1:c.1413+33695G>C XM_047448077.1:c.1413+33695G>A
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

110 SubSNP, 22 Frequency, 6 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2421379 Nov 14, 2000 (89)
2 SEQUENOM ss24796095 Sep 20, 2004 (123)
3 PERLEGEN ss68775077 May 18, 2007 (127)
4 AFFY ss74819461 Aug 16, 2007 (128)
5 CGM_KYOTO ss76875523 Dec 07, 2007 (129)
6 PHARMGKB_AB_DME ss84156620 Dec 15, 2007 (130)
7 SNP500CANCER ss105440248 Feb 05, 2009 (130)
8 1000GENOMES ss108441692 Jan 23, 2009 (130)
9 SEATTLESEQ ss159698108 Dec 01, 2009 (131)
10 ILLUMINA ss161065061 Dec 01, 2009 (131)
11 1000GENOMES ss230651191 Jul 14, 2010 (132)
12 NHLBI-ESP ss341976663 May 09, 2011 (134)
13 ILLUMINA ss479413376 Sep 08, 2015 (146)
14 ILLUMINA ss482443254 May 04, 2012 (137)
15 ILLUMINA ss483539810 May 04, 2012 (137)
16 1000GENOMES ss489753580 May 04, 2012 (137)
17 EXOME_CHIP ss491297118 May 04, 2012 (137)
18 CLINSEQ_SNP ss491598681 May 04, 2012 (137)
19 ILLUMINA ss535747065 Sep 08, 2015 (146)
20 ILLUMINA ss779509936 Sep 08, 2015 (146)
21 ILLUMINA ss780879270 Sep 08, 2015 (146)
22 ILLUMINA ss782213449 Sep 08, 2015 (146)
23 ILLUMINA ss783564863 Sep 08, 2015 (146)
24 ILLUMINA ss834980273 Sep 08, 2015 (146)
25 EVA-GONL ss975467721 Aug 21, 2014 (142)
26 JMKIDD_LAB ss1067423559 Aug 21, 2014 (142)
27 JMKIDD_LAB ss1068116813 Aug 21, 2014 (142)
28 1000GENOMES ss1292050674 Aug 21, 2014 (142)
29 HAMMER_LAB ss1397254772 Sep 08, 2015 (146)
30 DDI ss1425907405 Apr 01, 2015 (144)
31 CLINVAR ss1536213406 Dec 17, 2014 (142)
32 EVA_GENOME_DK ss1574260101 Apr 01, 2015 (144)
33 EVA_FINRISK ss1584009482 Apr 01, 2015 (144)
34 EVA_DECODE ss1584845228 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1600786066 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1643780099 Apr 01, 2015 (144)
37 EVA_EXAC ss1685650023 Apr 01, 2015 (144)
38 EVA_MGP ss1710913146 Apr 01, 2015 (144)
39 ILLUMINA ss1751941127 Sep 08, 2015 (146)
40 ILLUMINA ss1917731615 Feb 12, 2016 (147)
41 WEILL_CORNELL_DGM ss1918668192 Feb 12, 2016 (147)
42 ILLUMINA ss1946002604 Feb 12, 2016 (147)
43 ILLUMINA ss1958296019 Feb 12, 2016 (147)
44 JJLAB ss2019855402 Sep 14, 2016 (149)
45 HUMAN_LONGEVITY ss2164907366 Dec 20, 2016 (150)
46 ILLUMINA ss2632551897 Nov 08, 2017 (151)
47 ILLUMINA ss2632551898 Nov 08, 2017 (151)
48 ILLUMINA ss2632551899 Nov 08, 2017 (151)
49 ILLUMINA ss2710678043 Nov 08, 2017 (151)
50 GNOMAD ss2731657063 Nov 08, 2017 (151)
51 GNOMAD ss2746378483 Nov 08, 2017 (151)
52 GNOMAD ss2758472824 Nov 08, 2017 (151)
53 AFFY ss2984868260 Nov 08, 2017 (151)
54 AFFY ss2985519687 Nov 08, 2017 (151)
55 SWEGEN ss2987283132 Nov 08, 2017 (151)
56 ILLUMINA ss3021112895 Nov 08, 2017 (151)
57 ILLUMINA ss3626162235 Oct 11, 2018 (152)
58 ILLUMINA ss3626162236 Oct 11, 2018 (152)
59 ILLUMINA ss3630586149 Oct 11, 2018 (152)
60 ILLUMINA ss3634338545 Oct 11, 2018 (152)
61 ILLUMINA ss3636015985 Oct 11, 2018 (152)
62 ILLUMINA ss3640045905 Oct 11, 2018 (152)
63 ILLUMINA ss3644498564 Oct 11, 2018 (152)
64 ILLUMINA ss3651443541 Oct 11, 2018 (152)
65 ILLUMINA ss3653640137 Oct 11, 2018 (152)
66 EGCUT_WGS ss3655365998 Jul 12, 2019 (153)
67 EVA_DECODE ss3687339921 Jul 12, 2019 (153)
68 ILLUMINA ss3725047289 Jul 12, 2019 (153)
69 ACPOP ss3727301574 Jul 12, 2019 (153)
70 ILLUMINA ss3744348641 Jul 12, 2019 (153)
71 ILLUMINA ss3744639518 Jul 12, 2019 (153)
72 PAGE_CC ss3770827371 Jul 12, 2019 (153)
73 ILLUMINA ss3772140756 Jul 12, 2019 (153)
74 EVA ss3823633529 Apr 25, 2020 (154)
75 EVA ss3825570043 Apr 25, 2020 (154)
76 EVA ss3826319756 Apr 25, 2020 (154)
77 EVA ss3836550170 Apr 25, 2020 (154)
78 EVA ss3841958112 Apr 25, 2020 (154)
79 SGDP_PRJ ss3849449454 Apr 25, 2020 (154)
80 KOGIC ss3945066551 Apr 25, 2020 (154)
81 FSA-LAB ss3983938256 Apr 25, 2021 (155)
82 FSA-LAB ss3983938257 Apr 25, 2021 (155)
83 EVA ss3986128441 Apr 25, 2021 (155)
84 TOPMED ss4460167784 Apr 25, 2021 (155)
85 EVA ss6208439128 Nov 02, 2024 (157)
86 EVA ss6284041441 Nov 02, 2024 (157)
87 EVA ss6322091892 Nov 02, 2024 (157)
88 EVA ss6349481103 Nov 02, 2024 (157)
89 EVA ss6403965869 Nov 02, 2024 (157)
90 EVA ss6404017288 Nov 02, 2024 (157)
91 GNOMAD ss6407780031 Nov 02, 2024 (157)
92 GNOMAD ss6494946386 Nov 02, 2024 (157)
93 EVA ss8237632437 Nov 02, 2024 (157)
94 1000G_HIGH_COVERAGE ss8243273601 Nov 02, 2024 (157)
95 EVA ss8320581274 Nov 02, 2024 (157)
96 HUGCELL_USP ss8444230363 Nov 02, 2024 (157)
97 EVA ss8512473811 Nov 02, 2024 (157)
98 1000G_HIGH_COVERAGE ss8516087427 Nov 02, 2024 (157)
99 EVA ss8623994842 Nov 02, 2024 (157)
100 SANFORD_IMAGENETICS ss8624212891 Nov 02, 2024 (157)
101 SANFORD_IMAGENETICS ss8626104706 Nov 02, 2024 (157)
102 EVA ss8832352871 Nov 02, 2024 (157)
103 EVA ss8847163583 Nov 02, 2024 (157)
104 EVA ss8847548164 Nov 02, 2024 (157)
105 EVA ss8848266001 Nov 02, 2024 (157)
106 EVA ss8909416536 Nov 02, 2024 (157)
107 EVA ss8935519201 Nov 02, 2024 (157)
108 EVA ss8937963555 Nov 02, 2024 (157)
109 EVA ss8979283120 Nov 02, 2024 (157)
110 EVA ss8982330851 Nov 02, 2024 (157)
111 1000Genomes NC_000001.10 - 97981421 Oct 11, 2018 (152)
112 1000Genomes_30X NC_000001.11 - 97515865 Nov 02, 2024 (157)
113 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 97981421 Oct 11, 2018 (152)
114 Genome-wide autozygosity in Daghestan NC_000001.9 - 97754009 Apr 25, 2020 (154)
115 Genetic variation in the Estonian population NC_000001.10 - 97981421 Oct 11, 2018 (152)
116 ExAC NC_000001.10 - 97981421 Oct 11, 2018 (152)
117 FINRISK NC_000001.10 - 97981421 Apr 25, 2020 (154)
118 The Danish reference pan genome NC_000001.10 - 97981421 Apr 25, 2020 (154)
119 gnomAD v4 - Exomes NC_000001.11 - 97515865 Nov 02, 2024 (157)
120 gnomAD v4 - Genomes NC_000001.11 - 97515865 Nov 02, 2024 (157)
121 GO Exome Sequencing Project NC_000001.10 - 97981421 Oct 11, 2018 (152)
122 Genome of the Netherlands Release 5 NC_000001.10 - 97981421 Apr 25, 2020 (154)
123 Korean Genome Project NC_000001.11 - 97515865 Apr 25, 2020 (154)
124 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 97981421 Apr 25, 2020 (154)
125 Northern Sweden NC_000001.10 - 97981421 Jul 12, 2019 (153)
126 The PAGE Study NC_000001.11 - 97515865 Jul 12, 2019 (153)
127 PharmGKB Aggregated NC_000001.11 - 97515865 Apr 25, 2020 (154)
128 Qatari NC_000001.10 - 97981421 Apr 25, 2020 (154)
129 SGDP_PRJ NC_000001.10 - 97981421 Apr 25, 2020 (154)
130 TopMed NC_000001.11 - 97515865 Apr 25, 2021 (155)
131 UK 10K study - Twins NC_000001.10 - 97981421 Oct 11, 2018 (152)
132 ALFA NC_000001.11 - 97515865 Nov 02, 2024 (157)
133 ClinVar RCV000086477.24 Nov 02, 2024 (157)
134 ClinVar RCV000249334.10 Nov 02, 2024 (157)
135 ClinVar RCV000603277.9 Nov 02, 2024 (157)
136 ClinVar RCV001787909.3 Nov 02, 2024 (157)
137 ClinVar RCV001787910.3 Nov 02, 2024 (157)
138 ClinVar RCV003891587.1 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)
rs52824375 Sep 21, 2007 (128)
rs59516208 May 25, 2008 (130)
rs199469539 Dec 28, 2011 (136)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss6349481103, ss8512473811, ss8935519201 NC_000001.10:97981420:C:A NC_000001.11:97515864:C:A (self)
ss6349481103, ss8935519201 NC_000001.10:97981420:C:G NC_000001.11:97515864:C:G (self)
16079, ss108441692, ss482443254, ss491598681, ss1397254772, ss1584845228 NC_000001.9:97754008:C:T NC_000001.11:97515864:C:T (self)
2812339, 1550227, 1104246, 4855933, 5943, 1622888, 92163, 672109, 29898, 586439, 710122, 1466434, 1550227, ss230651191, ss341976663, ss479413376, ss483539810, ss489753580, ss491297118, ss535747065, ss779509936, ss780879270, ss782213449, ss783564863, ss834980273, ss975467721, ss1067423559, ss1068116813, ss1292050674, ss1425907405, ss1574260101, ss1584009482, ss1600786066, ss1643780099, ss1685650023, ss1710913146, ss1751941127, ss1917731615, ss1918668192, ss1946002604, ss1958296019, ss2019855402, ss2632551897, ss2632551898, ss2632551899, ss2710678043, ss2731657063, ss2746378483, ss2758472824, ss2984868260, ss2985519687, ss2987283132, ss3021112895, ss3626162235, ss3626162236, ss3630586149, ss3634338545, ss3636015985, ss3640045905, ss3644498564, ss3651443541, ss3653640137, ss3655365998, ss3727301574, ss3744348641, ss3744639518, ss3772140756, ss3823633529, ss3825570043, ss3826319756, ss3836550170, ss3849449454, ss3983938256, ss3983938257, ss3986128441, ss6208439128, ss6284041441, ss6322091892, ss6403965869, ss8320581274, ss8512473811, ss8623994842, ss8624212891, ss8626104706, ss8832352871, ss8847163583, ss8847548164, ss8848266001, ss8937963555, ss8979283120, ss8982330851 NC_000001.10:97981420:C:T NC_000001.11:97515864:C:T (self)
RCV000086477.24, RCV000249334.10, RCV000603277.9, RCV001787909.3, RCV001787910.3, RCV003891587.1, 3613362, 3078364, 21261158, 1444552, 48840, 318, 23774119, 11875418829, ss1536213406, ss2164907366, ss3687339921, ss3725047289, ss3770827371, ss3841958112, ss3945066551, ss4460167784, ss6404017288, ss6407780031, ss6494946386, ss8237632437, ss8243273601, ss8444230363, ss8516087427, ss8909416536 NC_000001.11:97515864:C:T NC_000001.11:97515864:C:T (self)
ss2421379, ss24796095, ss68775077, ss74819461, ss76875523, ss84156620, ss105440248, ss159698108, ss161065061 NT_032977.9:67953338:C:T NC_000001.11:97515864: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.

10 citations for rs1801158
PMID Title Author Year Journal
19104657 Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients. Gross E et al. 2008 PloS one
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
26099996 Clinical validity of a DPYD-based pharmacogenetic test to predict severe toxicity to fluoropyrimidines. Toffoli G et al. 2015 International journal of cancer
26369774 Impact of New Genomic Technologies on Understanding Adverse Drug Reactions. Maggo SD et al. 2016 Clinical pharmacokinetics
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
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
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
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.)
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
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
Top▲ 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.

Software version is: 2.0.1.post825+45319f0