Name: rs2297595
Published: September 3, 2024
License: Open Access

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.

rs2297595

Current Build 157

Released September 3, 2024

Organism: Homo sapiens
Position: chr1:97699535 (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: T>A / T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.0906999 (127026/1400508, GnomAD_exomes)
C=0.091082 (35755/392558, ALFA)
C=0.068990 (18261/264690, TOPMED) (+ 28 more)
C=0.079889 (11911/149094, GnomAD_genomes)
C=0.086366 (10470/121228, ExAC)
C=0.04560 (3589/78698, PAGE_STUDY)
C=0.01981 (1529/77200, 38KJPN)
C=0.07935 (1032/13006, GO-ESP)
C=0.0142 (103/7232, Korea4K)
C=0.0548 (351/6404, 1000G_30X)
C=0.0565 (283/5008, 1000G)
C=0.1540 (690/4480, Estonian)
C=0.0872 (336/3854, ALSPAC)
C=0.0879 (326/3708, TWINSUK)
C=0.0288 (95/3296, PRJNA289433)
C=0.0137 (40/2922, KOREAN)
C=0.0521 (98/1882, HapMap)
C=0.0136 (25/1832, Korea1K)
C=0.1162 (132/1136, Daghestan)
C=0.090 (90/998, GoNL)
C=0.019 (15/792, PRJEB37584)
C=0.031 (19/612, Vietnamese)
C=0.107 (64/600, NorthernSweden)
C=0.082 (44/534, MGP)
C=0.037 (13/356, PharmGKB)
C=0.211 (64/304, FINRISK)
C=0.111 (24/216, Qatari)
T=0.44 (30/68, SGDP_PRJ)
C=0.20 (8/40, GENOME_DK)
T=0.50 (6/12, Siberian)
C=0.50 (6/12, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: DPYD : Missense Variant
Publications: 28 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	392558	T=0.908918	C=0.091082	0.827108	0.009273	0.163619	15
European	Sub	331132	T=0.902673	C=0.097327	0.815506	0.010159	0.174335	6
African	Sub	16548	T=0.96568	C=0.03432	0.932681	0.001329	0.06599	0
African Others	Sub	594	T=0.978	C=0.022	0.959596	0.003367	0.037037	3
African American	Sub	15954	T=0.96521	C=0.03479	0.931679	0.001254	0.067068	0
Asian	Sub	6978	T=0.9857	C=0.0143	0.971338	0.0	0.028662	0
East Asian	Sub	5010	T=0.9860	C=0.0140	0.972056	0.0	0.027944	0
Other Asian	Sub	1968	T=0.9848	C=0.0152	0.969512	0.0	0.030488	0
Latin American 1	Sub	1488	T=0.9227	C=0.0773	0.849462	0.004032	0.146505	0
Latin American 2	Sub	7240	T=0.9593	C=0.0407	0.918785	0.000276	0.080939	3
South Asian	Sub	5226	T=0.9064	C=0.0936	0.823957	0.011098	0.164945	1
Other	Sub	23946	T=0.91815	C=0.08185	0.844149	0.007851	0.148	2

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
gnomAD v4 - Exomes	Global	Study-wide	1400508	T=0.9093001	C=0.0906999
gnomAD v4 - Exomes	European	Sub	1164572	T=0.9030648	C=0.0969352
gnomAD v4 - Exomes	South Asian	Sub	86228	T=0.90998	C=0.09002
gnomAD v4 - Exomes	American	Sub	44718	T=0.96125	C=0.03875
gnomAD v4 - Exomes	East Asian	Sub	39678	T=0.98211	C=0.01789
gnomAD v4 - Exomes	African	Sub	33442	T=0.96744	C=0.03256
gnomAD v4 - Exomes	Ashkenazi Jewish	Sub	26112	T=0.92333	C=0.07667
gnomAD v4 - Exomes	Middle Eastern	sub	5758	T=0.8538	C=0.1462
Allele Frequency Aggregator	Total	Global	392558	T=0.908918	C=0.091082
Allele Frequency Aggregator	European	Sub	331132	T=0.902673	C=0.097327
Allele Frequency Aggregator	Other	Sub	23946	T=0.91815	C=0.08185
Allele Frequency Aggregator	African	Sub	16548	T=0.96568	C=0.03432
Allele Frequency Aggregator	Latin American 2	Sub	7240	T=0.9593	C=0.0407
Allele Frequency Aggregator	Asian	Sub	6978	T=0.9857	C=0.0143
Allele Frequency Aggregator	South Asian	Sub	5226	T=0.9064	C=0.0936
Allele Frequency Aggregator	Latin American 1	Sub	1488	T=0.9227	C=0.0773
TopMed	Global	Study-wide	264690	T=0.931010	C=0.068990
gnomAD v4 - Genomes	Global	Study-wide	149094	T=0.920111	C=0.079889
gnomAD v4 - Genomes	European	Sub	78536	T=0.88888	C=0.11112
gnomAD v4 - Genomes	African	Sub	41540	T=0.96608	C=0.03392
gnomAD v4 - Genomes	American	Sub	15252	T=0.93352	C=0.06648
gnomAD v4 - Genomes	East Asian	Sub	5182	T=0.9838	C=0.0162
gnomAD v4 - Genomes	South Asian	Sub	4822	T=0.9268	C=0.0732
gnomAD v4 - Genomes	Ashkenazi Jewish	Sub	3468	T=0.9158	C=0.0842
gnomAD v4 - Genomes	Middle Eastern	sub	294	T=0.891	C=0.109
ExAC	Global	Study-wide	121228	T=0.913634	C=0.086366
ExAC	Europe	Sub	73272	T=0.89018	C=0.10982
ExAC	Asian	Sub	25150	T=0.93718	C=0.06282
ExAC	American	Sub	11564	T=0.96671	C=0.03329
ExAC	African	Sub	10334	T=0.96400	C=0.03600
ExAC	Other	Sub	908	T=0.905	C=0.095
The PAGE Study	Global	Study-wide	78698	T=0.95440	C=0.04560
The PAGE Study	AfricanAmerican	Sub	32514	T=0.96402	C=0.03598
The PAGE Study	Mexican	Sub	10808	T=0.95633	C=0.04367
The PAGE Study	Asian	Sub	8318	T=0.9805	C=0.0195
The PAGE Study	PuertoRican	Sub	7918	T=0.9116	C=0.0884
The PAGE Study	NativeHawaiian	Sub	4534	T=0.9685	C=0.0315
The PAGE Study	Cuban	Sub	4230	T=0.9258	C=0.0742
The PAGE Study	Dominican	Sub	3828	T=0.9321	C=0.0679
The PAGE Study	CentralAmerican	Sub	2450	T=0.9600	C=0.0400
The PAGE Study	SouthAmerican	Sub	1982	T=0.9521	C=0.0479
The PAGE Study	NativeAmerican	Sub	1260	T=0.9270	C=0.0730
The PAGE Study	SouthAsian	Sub	856	T=0.903	C=0.097
38KJPN	JAPANESE	Study-wide	77200	T=0.98019	C=0.01981
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.92065	C=0.07935
GO Exome Sequencing Project	European American	Sub	8600	T=0.9009	C=0.0991
GO Exome Sequencing Project	African American	Sub	4406	T=0.9591	C=0.0409
Korean Genome Project 4K	KOREAN	Study-wide	7232	T=0.9858	C=0.0142
1000Genomes_30X	Global	Study-wide	6404	T=0.9452	C=0.0548
1000Genomes_30X	African	Sub	1786	T=0.9709	C=0.0291
1000Genomes_30X	Europe	Sub	1266	T=0.8894	C=0.1106
1000Genomes_30X	South Asian	Sub	1202	T=0.9334	C=0.0666
1000Genomes_30X	East Asian	Sub	1170	T=0.9838	C=0.0162
1000Genomes_30X	American	Sub	980	T=0.939	C=0.061
1000Genomes	Global	Study-wide	5008	T=0.9435	C=0.0565
1000Genomes	African	Sub	1322	T=0.9690	C=0.0310
1000Genomes	East Asian	Sub	1008	T=0.9821	C=0.0179
1000Genomes	Europe	Sub	1006	T=0.8807	C=0.1193
1000Genomes	South Asian	Sub	978	T=0.939	C=0.061
1000Genomes	American	Sub	694	T=0.937	C=0.063
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.8460	C=0.1540
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9128	C=0.0872
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9121	C=0.0879
MxGDAR/Encodat-PGx	Global	Study-wide	3296	T=0.9712	C=0.0288
MxGDAR/Encodat-PGx	MxGDAR	Sub	3296	T=0.9712	C=0.0288
KOREAN population from KRGDB	KOREAN	Study-wide	2922	T=0.9863	C=0.0137
HapMap	Global	Study-wide	1882	T=0.9479	C=0.0521
HapMap	American	Sub	764	T=0.950	C=0.050
HapMap	African	Sub	688	T=0.945	C=0.055
HapMap	Asian	Sub	254	T=0.992	C=0.008
HapMap	Europe	Sub	176	T=0.886	C=0.114
Korean Genome Project	KOREAN	Study-wide	1832	T=0.9864	C=0.0136
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	T=0.8838	C=0.1162
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.868	C=0.132
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.889	C=0.111
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.893	C=0.107
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.898	C=0.102
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.95	C=0.05
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.89	C=0.11
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.910	C=0.090
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.981	C=0.019
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.981	C=0.019
A Vietnamese Genetic Variation Database	Global	Study-wide	612	T=0.969	C=0.031
Northern Sweden	ACPOP	Study-wide	600	T=0.893	C=0.107
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.918	C=0.082
PharmGKB Aggregated	Global	Study-wide	356	T=0.963	C=0.037
PharmGKB Aggregated	PA149745975	Sub	356	T=0.963	C=0.037
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.789	C=0.211
Qatari	Global	Study-wide	216	T=0.889	C=0.111
SGDP_PRJ	Global	Study-wide	68	T=0.44	C=0.56
The Danish reference pan genome	Danish	Study-wide	40	T=0.80	C=0.20
Siberian	Global	Study-wide	12	T=0.50	C=0.50

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.97699535T>A
GRCh38.p14 chr 1	NC_000001.11:g.97699535T>C
GRCh37.p13 chr 1	NC_000001.10:g.98165091T>A
GRCh37.p13 chr 1	NC_000001.10:g.98165091T>C
DPYD RefSeqGene (LRG_722)	NG_008807.2:g.226525A>T
DPYD RefSeqGene (LRG_722)	NG_008807.2:g.226525A>G

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.496A>T	M [ATG] > L [TTG]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1	NP_000101.2:p.Met166Leu	M (Met) > L (Leu)	Missense Variant
DPYD transcript variant 1	NM_000110.4:c.496A>G	M [ATG] > V [GTG]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1	NP_000101.2:p.Met166Val	M (Met) > V (Val)	Missense Variant
DPYD transcript variant X2	XM_005270562.3:c.496A>T	M [ATG] > L [TTG]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2	XP_005270619.2:p.Met166Leu	M (Met) > L (Leu)	Missense Variant
DPYD transcript variant X2	XM_005270562.3:c.496A>G	M [ATG] > V [GTG]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2	XP_005270619.2:p.Met166Val	M (Met) > V (Val)	Missense Variant
DPYD transcript variant X1	XM_017000507.2:c.385A>T	M [ATG] > L [TTG]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1	XP_016855996.1:p.Met129Leu	M (Met) > L (Leu)	Missense Variant
DPYD transcript variant X1	XM_017000507.2:c.385A>G	M [ATG] > V [GTG]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1	XP_016855996.1:p.Met129Val	M (Met) > V (Val)	Missense Variant
DPYD transcript variant X3	XM_047448076.1:c.268A>T	M [ATG] > L [TTG]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3	XP_047304032.1:p.Met90Leu	M (Met) > L (Leu)	Missense Variant
DPYD transcript variant X3	XM_047448076.1:c.268A>G	M [ATG] > V [GTG]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3	XP_047304032.1:p.Met90Val	M (Met) > V (Val)	Missense Variant
DPYD transcript variant X4	XM_047448077.1:c.385A>T	M [ATG] > L [TTG]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X4	XP_047304033.1:p.Met129Leu	M (Met) > L (Leu)	Missense Variant
DPYD transcript variant X4	XM_047448077.1:c.385A>G	M [ATG] > V [GTG]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X4	XP_047304033.1:p.Met129Val	M (Met) > V (Val)	Missense Variant
DPYD transcript variant X5	XM_006710397.4:c.496A>T	M [ATG] > L [TTG]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X5	XP_006710460.1:p.Met166Leu	M (Met) > L (Leu)	Missense Variant
DPYD transcript variant X5	XM_006710397.4:c.496A>G	M [ATG] > V [GTG]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X5	XP_006710460.1:p.Met166Val	M (Met) > V (Val)	Missense Variant
DPYD transcript variant X6	XR_001737014.2:n.735A>T	N/A	Non Coding Transcript Variant
DPYD transcript variant X6	XR_001737014.2:n.735A>G	N/A	Non Coding Transcript Variant

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

Allele: C (allele ID: 105993 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000086499.10	not provided	Benign
RCV000245015.9	not specified	Benign
RCV000276917.7	Dihydropyrimidine dehydrogenase deficiency	Conflicting-Interpretations-Of-Pathogenicity
RCV001787915.2	capecitabine response - Toxicity	Drug-Response
RCV001787916.2	fluorouracil response - Toxicity	Drug-Response
RCV003891588.1	DPYD-related disorder	Benign

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	T=	A	C
GRCh38.p14 chr 1	NC_000001.11:g.97699535=	NC_000001.11:g.97699535T>A	NC_000001.11:g.97699535T>C
GRCh37.p13 chr 1	NC_000001.10:g.98165091=	NC_000001.10:g.98165091T>A	NC_000001.10:g.98165091T>C
DPYD RefSeqGene (LRG_722)	NG_008807.2:g.226525=	NG_008807.2:g.226525A>T	NG_008807.2:g.226525A>G
DPYD transcript variant 1	NM_000110.4:c.496=	NM_000110.4:c.496A>T	NM_000110.4:c.496A>G
DPYD transcript variant 1	NM_000110.3:c.496=	NM_000110.3:c.496A>T	NM_000110.3:c.496A>G
DPYD transcript variant X5	XM_006710397.4:c.496=	XM_006710397.4:c.496A>T	XM_006710397.4:c.496A>G
DPYD transcript variant X3	XM_006710397.3:c.496=	XM_006710397.3:c.496A>T	XM_006710397.3:c.496A>G
DPYD transcript variant X2	XM_006710397.2:c.496=	XM_006710397.2:c.496A>T	XM_006710397.2:c.496A>G
DPYD transcript variant X3	XM_006710397.1:c.496=	XM_006710397.1:c.496A>T	XM_006710397.1:c.496A>G
DPYD transcript variant X2	XM_005270562.3:c.496=	XM_005270562.3:c.496A>T	XM_005270562.3:c.496A>G
DPYD transcript variant X2	XM_005270562.2:c.496=	XM_005270562.2:c.496A>T	XM_005270562.2:c.496A>G
DPYD transcript variant X2	XM_005270562.1:c.496=	XM_005270562.1:c.496A>T	XM_005270562.1:c.496A>G
DPYD transcript variant X1	XM_017000507.2:c.385=	XM_017000507.2:c.385A>T	XM_017000507.2:c.385A>G
DPYD transcript variant X1	XM_017000507.1:c.385=	XM_017000507.1:c.385A>T	XM_017000507.1:c.385A>G
DPYD transcript variant X6	XR_001737014.2:n.735=	XR_001737014.2:n.735A>T	XR_001737014.2:n.735A>G
DPYD transcript variant X7	XR_001737014.1:n.735=	XR_001737014.1:n.735A>T	XR_001737014.1:n.735A>G
DPYD transcript variant X3	XM_047448076.1:c.268=	XM_047448076.1:c.268A>T	XM_047448076.1:c.268A>G
DPYD transcript variant X4	XM_047448077.1:c.385=	XM_047448077.1:c.385A>T	XM_047448077.1:c.385A>G
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1	NP_000101.2:p.Met166=	NP_000101.2:p.Met166Leu	NP_000101.2:p.Met166Val
dihydropyrimidine dehydrogenase [NADP(+)] isoform X5	XP_006710460.1:p.Met166=	XP_006710460.1:p.Met166Leu	XP_006710460.1:p.Met166Val
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2	XP_005270619.2:p.Met166=	XP_005270619.2:p.Met166Leu	XP_005270619.2:p.Met166Val
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1	XP_016855996.1:p.Met129=	XP_016855996.1:p.Met129Leu	XP_016855996.1:p.Met129Val
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3	XP_047304032.1:p.Met90=	XP_047304032.1:p.Met90Leu	XP_047304032.1:p.Met90Val
dihydropyrimidine dehydrogenase [NADP(+)] isoform X4	XP_047304033.1:p.Met129=	XP_047304033.1:p.Met129Leu	XP_047304033.1:p.Met129Val
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2	XP_005270619.1:p.Met166=	XP_005270619.1:p.Met166Leu	XP_005270619.1:p.Met166Val

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#.

175 SubSNP, 30 Frequency, 6 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3242112	Sep 28, 2001 (100)
2	PERLEGEN	ss68775101	May 17, 2007 (127)
3	AFFY	ss74818500	Aug 16, 2007 (128)
4	ILLUMINA	ss74857738	Dec 07, 2007 (129)
5	AFFY	ss76456133	Dec 07, 2007 (129)
6	CGM_KYOTO	ss76866286	Dec 07, 2007 (129)
7	PHARMGKB_AB_DME	ss84156640	Dec 16, 2007 (130)
8	CORNELL	ss86240425	Mar 23, 2008 (129)
9	CANCER-GENOME	ss86342033	Mar 23, 2008 (129)
10	BCMHGSC_JDW	ss87648917	Mar 23, 2008 (129)
11	KRIBB_YJKIM	ss104868949	Feb 06, 2009 (130)
12	SNP500CANCER	ss105439820	Feb 06, 2009 (130)
13	ENSEMBL	ss138043091	Dec 01, 2009 (131)
14	ILLUMINA	ss153901421	Dec 01, 2009 (131)
15	ILLUMINA	ss159379231	Dec 01, 2009 (131)
16	ILLUMINA	ss160532487	Dec 01, 2009 (131)
17	ILLUMINA	ss173269396	Jul 04, 2010 (132)
18	BUSHMAN	ss198817775	Jul 04, 2010 (132)
19	1000GENOMES	ss230651617	Jul 14, 2010 (132)
20	1000GENOMES	ss238319989	Jul 15, 2010 (132)
21	GMI	ss284103424	Apr 25, 2013 (138)
22	NHLBI-ESP	ss341976728	May 09, 2011 (134)
23	ILLUMINA	ss480519143	May 04, 2012 (137)
24	ILLUMINA	ss480533640	May 04, 2012 (137)
25	ILLUMINA	ss481344403	Sep 08, 2015 (146)
26	ILLUMINA	ss485056912	May 04, 2012 (137)
27	1000GENOMES	ss489753627	May 04, 2012 (137)
28	EXOME_CHIP	ss491297130	May 04, 2012 (137)
29	CLINSEQ_SNP	ss491598692	May 04, 2012 (137)
30	ILLUMINA	ss537073480	Sep 08, 2015 (146)
31	TISHKOFF	ss554468374	Apr 25, 2013 (138)
32	SSMP	ss648244872	Apr 25, 2013 (138)
33	ILLUMINA	ss778491120	Aug 21, 2014 (142)
34	ILLUMINA	ss780879373	Aug 21, 2014 (142)
35	ILLUMINA	ss782974674	Aug 21, 2014 (142)
36	ILLUMINA	ss783564968	Aug 21, 2014 (142)
37	ILLUMINA	ss783935944	Aug 21, 2014 (142)
38	ILLUMINA	ss832231054	Apr 01, 2015 (144)
39	ILLUMINA	ss832891024	Aug 21, 2014 (142)
40	ILLUMINA	ss833481854	Aug 21, 2014 (142)
41	ILLUMINA	ss833947124	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss974436257	Aug 21, 2014 (142)
43	EVA-GONL	ss975468994	Aug 21, 2014 (142)
44	JMKIDD_LAB	ss1067423568	Aug 21, 2014 (142)
45	JMKIDD_LAB	ss1068117749	Aug 21, 2014 (142)
46	1000GENOMES	ss1292055562	Aug 21, 2014 (142)
47	HAMMER_LAB	ss1397254810	Sep 08, 2015 (146)
48	DDI	ss1425907644	Apr 01, 2015 (144)
49	CLINVAR	ss1536213428	Dec 17, 2014 (142)
50	EVA_GENOME_DK	ss1574261062	Apr 01, 2015 (144)
51	EVA_FINRISK	ss1584009487	Apr 01, 2015 (144)
52	EVA_DECODE	ss1584846634	Apr 01, 2015 (144)
53	EVA_UK10K_ALSPAC	ss1600788744	Apr 01, 2015 (144)
54	EVA_UK10K_TWINSUK	ss1643782777	Apr 01, 2015 (144)
55	EVA_EXAC	ss1685650354	Apr 01, 2015 (144)
56	EVA_MGP	ss1710913168	Apr 01, 2015 (144)
57	EVA_SVP	ss1712356208	Apr 01, 2015 (144)
58	ILLUMINA	ss1751941303	Sep 08, 2015 (146)
59	ILLUMINA	ss1751941304	Sep 08, 2015 (146)
60	ILLUMINA	ss1917731627	Feb 12, 2016 (147)
61	WEILL_CORNELL_DGM	ss1918669280	Feb 12, 2016 (147)
62	ILLUMINA	ss1946002635	Feb 12, 2016 (147)
63	ILLUMINA	ss1958296100	Feb 12, 2016 (147)
64	AMU	ss1966654231	Feb 12, 2016 (147)
65	JJLAB	ss2019855867	Sep 14, 2016 (149)
66	ILLUMINA	ss2094783938	Dec 20, 2016 (150)
67	ILLUMINA	ss2094968417	Dec 20, 2016 (150)
68	USC_VALOUEV	ss2147874692	Dec 20, 2016 (150)
69	HUMAN_LONGEVITY	ss2164918398	Dec 20, 2016 (150)
70	ILLUMINA	ss2632552101	Nov 08, 2017 (151)
71	ILLUMINA	ss2635001452	Nov 08, 2017 (151)
72	GRF	ss2697801884	Nov 08, 2017 (151)
73	ILLUMINA	ss2710678067	Nov 08, 2017 (151)
74	GNOMAD	ss2731657562	Nov 08, 2017 (151)
75	GNOMAD	ss2746378627	Nov 08, 2017 (151)
76	GNOMAD	ss2758487478	Nov 08, 2017 (151)
77	AFFY	ss2984868289	Nov 08, 2017 (151)
78	AFFY	ss2985519710	Nov 08, 2017 (151)
79	SWEGEN	ss2987285015	Nov 08, 2017 (151)
80	ILLUMINA	ss3021112992	Nov 08, 2017 (151)
81	BIOINF_KMB_FNS_UNIBA	ss3023691609	Nov 08, 2017 (151)
82	CSIRBIOHTS	ss3029637211	Nov 08, 2017 (151)
83	CSHL	ss3343589974	Nov 08, 2017 (151)
84	ILLUMINA	ss3626162583	Oct 11, 2018 (152)
85	ILLUMINA	ss3626162584	Oct 11, 2018 (152)
86	ILLUMINA	ss3630586338	Oct 11, 2018 (152)
87	ILLUMINA	ss3632902757	Oct 11, 2018 (152)
88	ILLUMINA	ss3633597742	Oct 11, 2018 (152)
89	ILLUMINA	ss3634338694	Oct 11, 2018 (152)
90	ILLUMINA	ss3634338695	Oct 11, 2018 (152)
91	ILLUMINA	ss3635291367	Oct 11, 2018 (152)
92	ILLUMINA	ss3636016152	Oct 11, 2018 (152)
93	ILLUMINA	ss3637041819	Oct 11, 2018 (152)
94	ILLUMINA	ss3637774718	Oct 11, 2018 (152)
95	ILLUMINA	ss3640046054	Oct 11, 2018 (152)
96	ILLUMINA	ss3640046055	Oct 11, 2018 (152)
97	ILLUMINA	ss3640984416	Oct 11, 2018 (152)
98	ILLUMINA	ss3641278403	Oct 11, 2018 (152)
99	ILLUMINA	ss3642784957	Oct 11, 2018 (152)
100	ILLUMINA	ss3644498594	Oct 11, 2018 (152)
101	OMUKHERJEE_ADBS	ss3646233654	Oct 11, 2018 (152)
102	ILLUMINA	ss3651443652	Oct 11, 2018 (152)
103	ILLUMINA	ss3651443653	Oct 11, 2018 (152)
104	ILLUMINA	ss3653640174	Oct 11, 2018 (152)
105	EGCUT_WGS	ss3655368061	Jul 12, 2019 (153)
106	EVA_DECODE	ss3687342207	Jul 12, 2019 (153)
107	ILLUMINA	ss3725047380	Jul 12, 2019 (153)
108	ACPOP	ss3727302596	Jul 12, 2019 (153)
109	ILLUMINA	ss3744348655	Jul 12, 2019 (153)
110	ILLUMINA	ss3744639666	Jul 12, 2019 (153)
111	ILLUMINA	ss3744639667	Jul 12, 2019 (153)
112	EVA	ss3746558838	Jul 12, 2019 (153)
113	PAGE_CC	ss3770827436	Jul 12, 2019 (153)
114	ILLUMINA	ss3772140904	Jul 12, 2019 (153)
115	ILLUMINA	ss3772140905	Jul 12, 2019 (153)
116	KHV_HUMAN_GENOMES	ss3799559960	Jul 12, 2019 (153)
117	EVA	ss3823633602	Apr 25, 2020 (154)
118	EVA	ss3825570053	Apr 25, 2020 (154)
119	EVA	ss3826320210	Apr 25, 2020 (154)
120	SGDP_PRJ	ss3849451918	Apr 25, 2020 (154)
121	KRGDB	ss3894526984	Apr 25, 2020 (154)
122	KOGIC	ss3945068580	Apr 25, 2020 (154)
123	FSA-LAB	ss3983938266	Apr 25, 2021 (155)
124	EVA	ss3984447106	Apr 25, 2021 (155)
125	EVA	ss3984461567	Apr 25, 2021 (155)
126	EVA	ss3986128461	Apr 25, 2021 (155)
127	EVA	ss4016927023	Apr 25, 2021 (155)
128	TOPMED	ss4460215230	Apr 25, 2021 (155)
129	EVA	ss6208443981	Nov 02, 2024 (157)
130	EVA	ss6284043809	Nov 02, 2024 (157)
131	EVA	ss6322091917	Nov 02, 2024 (157)
132	EVA	ss6322917473	Nov 02, 2024 (157)
133	EVA	ss6329345284	Nov 02, 2024 (157)
134	YEGNASUBRAMANIAN_LAB	ss6334274657	Nov 02, 2024 (157)
135	EVA	ss6349481154	Nov 02, 2024 (157)
136	KOGIC	ss6352005927	Nov 02, 2024 (157)
137	EVA	ss6403965895	Nov 02, 2024 (157)
138	EVA	ss6404017298	Nov 02, 2024 (157)
139	GNOMAD	ss6407783007	Nov 02, 2024 (157)
140	GNOMAD	ss6494987543	Nov 02, 2024 (157)
141	TOMMO_GENOMICS	ss8145255979	Nov 02, 2024 (157)
142	EVA	ss8236871146	Nov 02, 2024 (157)
143	EVA	ss8237270616	Nov 02, 2024 (157)
144	EVA	ss8237632442	Nov 02, 2024 (157)
145	1000G_HIGH_COVERAGE	ss8243277743	Nov 02, 2024 (157)
146	TRAN_CS_UWATERLOO	ss8314396343	Nov 02, 2024 (157)
147	EVA	ss8314637195	Nov 02, 2024 (157)
148	EVA	ss8320589277	Nov 02, 2024 (157)
149	HUGCELL_USP	ss8444234078	Nov 02, 2024 (157)
150	EVA	ss8505960462	Nov 02, 2024 (157)
151	EVA	ss8512473828	Nov 02, 2024 (157)
152	1000G_HIGH_COVERAGE	ss8516094100	Nov 02, 2024 (157)
153	EVA	ss8623915369	Nov 02, 2024 (157)
154	EVA	ss8623994844	Nov 02, 2024 (157)
155	SANFORD_IMAGENETICS	ss8624212923	Nov 02, 2024 (157)
156	SANFORD_IMAGENETICS	ss8626107009	Nov 02, 2024 (157)
157	TOMMO_GENOMICS	ss8670399619	Nov 02, 2024 (157)
158	EVA	ss8799409419	Nov 02, 2024 (157)
159	EVA	ss8799493171	Nov 02, 2024 (157)
160	EVA	ss8800083418	Nov 02, 2024 (157)
161	YY_MCH	ss8800849364	Nov 02, 2024 (157)
162	EVA	ss8832354472	Nov 02, 2024 (157)
163	EVA	ss8847163606	Nov 02, 2024 (157)
164	EVA	ss8847548224	Nov 02, 2024 (157)
165	EVA	ss8848266013	Nov 02, 2024 (157)
166	EVA	ss8909421455	Nov 02, 2024 (157)
167	EVA	ss8935519755	Nov 02, 2024 (157)
168	EVA	ss8936510868	Nov 02, 2024 (157)
169	EVA	ss8937966047	Nov 02, 2024 (157)
170	EVA	ss8979283170	Nov 02, 2024 (157)
171	EVA	ss8981422809	Nov 02, 2024 (157)
172	EVA	ss8981429236	Nov 02, 2024 (157)
173	LNCC-LABINFO	ss8982072045	Nov 02, 2024 (157)
174	EVA	ss8982330906	Nov 02, 2024 (157)
175	TOMMO_GENOMICS	ss8989744006	Nov 02, 2024 (157)
176	1000Genomes	NC_000001.10 - 98165091	Oct 11, 2018 (152)
177	1000Genomes_30X	NC_000001.11 - 97699535	Nov 02, 2024 (157)
178	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 98165091	Oct 11, 2018 (152)
179	Genome-wide autozygosity in Daghestan	NC_000001.9 - 97937679	Apr 25, 2020 (154)
180	Genetic variation in the Estonian population	NC_000001.10 - 98165091	Oct 11, 2018 (152)
181	ExAC	NC_000001.10 - 98165091	Oct 11, 2018 (152)
182	FINRISK	NC_000001.10 - 98165091	Apr 25, 2020 (154)
183	The Danish reference pan genome	NC_000001.10 - 98165091	Apr 25, 2020 (154)
184	gnomAD v4 - Exomes	NC_000001.11 - 97699535	Nov 02, 2024 (157)
185	gnomAD v4 - Genomes	NC_000001.11 - 97699535	Nov 02, 2024 (157)
186	GO Exome Sequencing Project	NC_000001.10 - 98165091	Oct 11, 2018 (152)
187	Genome of the Netherlands Release 5	NC_000001.10 - 98165091	Apr 25, 2020 (154)
188	HapMap	NC_000001.11 - 97699535	Apr 25, 2020 (154)
189	KOREAN population from KRGDB	NC_000001.10 - 98165091	Apr 25, 2020 (154)
190	Korean Genome Project	NC_000001.11 - 97699535	Apr 25, 2020 (154)
191	Korean Genome Project 4K	NC_000001.11 - 97699535	Nov 02, 2024 (157)
192	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 98165091	Apr 25, 2020 (154)
193	Northern Sweden	NC_000001.10 - 98165091	Jul 12, 2019 (153)
194	The PAGE Study	NC_000001.11 - 97699535	Jul 12, 2019 (153)
195	CNV burdens in cranial meningiomas	NC_000001.10 - 98165091	Apr 25, 2021 (155)
196	MxGDAR/Encodat-PGx	NC_000001.10 - 98165091	Apr 25, 2021 (155)
197	PharmGKB Aggregated	NC_000001.11 - 97699535	Apr 25, 2020 (154)
198	Qatari	NC_000001.10 - 98165091	Apr 25, 2020 (154)
199	SGDP_PRJ	NC_000001.10 - 98165091	Apr 25, 2020 (154)
200	Siberian	NC_000001.10 - 98165091	Apr 25, 2020 (154)
201	38KJPN	NC_000001.11 - 97699535	Nov 02, 2024 (157)
202	TopMed	NC_000001.11 - 97699535	Apr 25, 2021 (155)
203	UK 10K study - Twins	NC_000001.10 - 98165091	Oct 11, 2018 (152)
204	A Vietnamese Genetic Variation Database	NC_000001.10 - 98165091	Jul 12, 2019 (153)
205	ALFA	NC_000001.11 - 97699535	Nov 02, 2024 (157)
206	ClinVar	RCV000086499.10	Nov 02, 2024 (157)
207	ClinVar	RCV000245015.9	Nov 02, 2024 (157)
208	ClinVar	RCV000276917.7	Nov 02, 2024 (157)
209	ClinVar	RCV001787915.2	Nov 02, 2024 (157)
210	ClinVar	RCV001787916.2	Nov 02, 2024 (157)
211	ClinVar	RCV003891588.1	Nov 02, 2024 (157)

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)
rs52827192	Sep 21, 2007 (128)
rs61243782	May 26, 2008 (130)
rs118014431	Aug 16, 2010 (132)
rs199469517	Dec 28, 2011 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss8512473828	NC_000001.10:98165090:T:A	NC_000001.11:97699534:T:A	(self)
16117, ss87648917, ss160532487, ss198817775, ss284103424, ss480519143, ss491598692, ss1397254810, ss1584846634, ss1712356208, ss2635001452, ss3642784957	NC_000001.9:97937678:T:C	NC_000001.11:97699534:T:C	(self)
2817397, 1553123, 1106309, 4856287, 5948, 1623368, 92236, 673373, 1704378, 29920, 587461, 10879, 107, 711210, 1468898, 391046, 1553123, 334209, ss230651617, ss238319989, ss341976728, ss480533640, ss481344403, ss485056912, ss489753627, ss491297130, ss537073480, ss554468374, ss648244872, ss778491120, ss780879373, ss782974674, ss783564968, ss783935944, ss832231054, ss832891024, ss833481854, ss833947124, ss974436257, ss975468994, ss1067423568, ss1068117749, ss1292055562, ss1425907644, ss1574261062, ss1584009487, ss1600788744, ss1643782777, ss1685650354, ss1710913168, ss1751941303, ss1751941304, ss1917731627, ss1918669280, ss1946002635, ss1958296100, ss1966654231, ss2019855867, ss2094783938, ss2094968417, ss2147874692, ss2632552101, ss2697801884, ss2710678067, ss2731657562, ss2746378627, ss2758487478, ss2984868289, ss2985519710, ss2987285015, ss3021112992, ss3029637211, ss3343589974, ss3626162583, ss3626162584, ss3630586338, ss3632902757, ss3633597742, ss3634338694, ss3634338695, ss3635291367, ss3636016152, ss3637041819, ss3637774718, ss3640046054, ss3640046055, ss3640984416, ss3641278403, ss3644498594, ss3646233654, ss3651443652, ss3651443653, ss3653640174, ss3655368061, ss3727302596, ss3744348655, ss3744639666, ss3744639667, ss3746558838, ss3772140904, ss3772140905, ss3823633602, ss3825570053, ss3826320210, ss3849451918, ss3894526984, ss3983938266, ss3984447106, ss3984461567, ss3986128461, ss4016927023, ss6208443981, ss6284043809, ss6322091917, ss6322917473, ss6329345284, ss6334274657, ss6349481154, ss6403965895, ss8145255979, ss8237270616, ss8314637195, ss8320589277, ss8505960462, ss8512473828, ss8623915369, ss8623994844, ss8624212923, ss8626107009, ss8799409419, ss8799493171, ss8800083418, ss8832354472, ss8847163606, ss8847548224, ss8848266013, ss8935519755, ss8936510868, ss8937966047, ss8979283170, ss8981422809, ss8981429236, ss8982330906	NC_000001.10:98165090:T:C	NC_000001.11:97699534:T:C	(self)
RCV000086499.10, RCV000245015.9, RCV000276917.7, RCV001787915.2, RCV001787916.2, RCV003891588.1, 3620035, 3081341, 21302328, 133759, 1446581, 1857825, 48905, 322, 7119826, 23821565, 11276338187, ss1536213428, ss2164918398, ss3023691609, ss3687342207, ss3725047380, ss3770827436, ss3799559960, ss3945068580, ss4460215230, ss6352005927, ss6404017298, ss6407783007, ss6494987543, ss8236871146, ss8237632442, ss8243277743, ss8314396343, ss8444234078, ss8516094100, ss8670399619, ss8800849364, ss8909421455, ss8982072045, ss8989744006	NC_000001.11:97699534:T:C	NC_000001.11:97699534:T:C	(self)
ss3242112, ss68775101, ss74818500, ss74857738, ss76456133, ss76866286, ss84156640, ss86240425, ss86342033, ss104868949, ss105439820, ss138043091, ss153901421, ss159379231, ss173269396	NT_032977.9:68137008:T:C	NC_000001.11:97699534:T:C	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

28 citations for rs2297595

PMID	Title	Author	Year	Journal
11156223	Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene.	van Kuilenburg AB et al.	2000	Clinical cancer research
14635116	Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects.	Gross E et al.	2003	Human mutation
16115930	Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in a cohort of Caucasian individuals.	Seck K et al.	2005	Clinical 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
19473056	Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidine-related toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidine-based chemotherapy.	Kleibl Z et al.	2009	Neoplasma
20803296	Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity.	van Kuilenburg AB et al.	2010	Human genetics
21498394	Relationship between single nucleotide polymorphisms and haplotypes in DPYD and toxicity and efficacy of capecitabine in advanced colorectal cancer.	Deenen MJ et al.	2011	Clinical cancer research
22992668	Pharmacogenomics knowledge for personalized medicine.	Whirl-Carrillo M et al.	2012	Clinical pharmacology and therapeutics
23692340	Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly.	Ramos EI et al.	2014	Clinical genetics
23736036	Pharmacogenetic variants in the DPYD, TYMS, CDA and MTHFR genes are clinically significant predictors of fluoropyrimidine toxicity.	Loganayagam A et al.	2013	British journal of cancer
24648345	Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity.	Offer SM et al.	2014	Cancer research
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
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
25782327	DPD and UGT1A1 deficiency in colorectal cancer patients receiving triplet chemotherapy with fluoropyrimidines, oxaliplatin and irinotecan.	Falvella FS et al.	2015	British journal of clinical pharmacology
26099996	Clinical validity of a DPYD-based pharmacogenetic test to predict severe toxicity to fluoropyrimidines.	Toffoli G et al.	2015	International journal of cancer
26216193	Genotype-phenotype correlations in 5-fluorouracil metabolism: a candidate DPYD haplotype to improve toxicity prediction.	Gentile G et al.	2016	The pharmacogenomics journal
26801900	Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations.	Cocca M et al.	2016	Journal of translational medicine
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
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
33384710	The Co-existence of ADHD With Autism in Saudi Children: An Analysis Using Next-Generation DNA Sequencing.	Bogari NM et al.	2020	Frontiers in genetics
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
33767731	Potential Impact of DPYD Variation on Fluoropyrimidine Drug Response in sub-Saharan African Populations.	da Rocha JEB et al.	2021	Frontiers in genetics
34621706	Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.	Kim B et al.	2021	Translational and clinical pharmacology
34780066	DPYD polymorphisms c.496A>G, c.2194G>A and c.85T>C and risk of severe adverse drug reactions in patients treated with fluoropyrimidine-based protocols.	Božina N et al.	2022	British journal of clinical pharmacology
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

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).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2297595