Name: rs56038477
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.

rs56038477

Current Build 157

Released September 3, 2024

Organism: Homo sapiens
Position: chr1:97573863 (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=0.012010 (3179/264690, TOPMED)
T=0.017984 (3130/174042, ALFA)
T=0.013046 (1946/149164, GnomAD_genomes) (+ 16 more)
T=0.015350 (1862/121304, ExAC)
T=0.00443 (349/78700, PAGE_STUDY)
T=0.01569 (204/13006, GO-ESP)
T=0.0081 (52/6404, 1000G_30X)
T=0.0096 (48/5008, 1000G)
T=0.0187 (84/4480, Estonian)
T=0.0176 (68/3854, ALSPAC)
T=0.0245 (91/3708, TWINSUK)
T=0.0003 (1/2922, KOREAN)
T=0.021 (21/998, GoNL)
T=0.035 (21/600, NorthernSweden)
T=0.007 (4/534, MGP)
T=0.010 (3/304, FINRISK)
T=0.009 (2/216, Qatari)
T=0.05 (2/40, GENOME_DK)
C=0.44 (8/18, 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	174042	C=0.982016	T=0.017984	0.964353	0.000322	0.035325	0
European	Sub	148274	C=0.980165	T=0.019835	0.960694	0.000364	0.038941	0
African	Sub	9726	C=0.9969	T=0.0031	0.993831	0.0	0.006169	0
African Others	Sub	360	C=1.000	T=0.000	1.0	0.0	0.0	N/A
African American	Sub	9366	C=0.9968	T=0.0032	0.993594	0.0	0.006406	0
Asian	Sub	3410	C=1.0000	T=0.0000	1.0	0.0	0.0	N/A
East Asian	Sub	2752	C=1.0000	T=0.0000	1.0	0.0	0.0	N/A
Other Asian	Sub	658	C=1.000	T=0.000	1.0	0.0	0.0	N/A
Latin American 1	Sub	798	C=0.991	T=0.009	0.982456	0.0	0.017544	0
Latin American 2	Sub	952	C=0.996	T=0.004	0.991597	0.0	0.008403	0
South Asian	Sub	280	C=0.989	T=0.011	0.978571	0.0	0.021429	0
Other	Sub	10602	C=0.98632	T=0.01368	0.972835	0.000189	0.026976	0

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.987990	T=0.012010
Allele Frequency Aggregator	Total	Global	174042	C=0.982016	T=0.017984
Allele Frequency Aggregator	European	Sub	148274	C=0.980165	T=0.019835
Allele Frequency Aggregator	Other	Sub	10602	C=0.98632	T=0.01368
Allele Frequency Aggregator	African	Sub	9726	C=0.9969	T=0.0031
Allele Frequency Aggregator	Asian	Sub	3410	C=1.0000	T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	952	C=0.996	T=0.004
Allele Frequency Aggregator	Latin American 1	Sub	798	C=0.991	T=0.009
Allele Frequency Aggregator	South Asian	Sub	280	C=0.989	T=0.011
gnomAD v4 - Genomes	Global	Study-wide	149164	C=0.986954	T=0.013046
gnomAD v4 - Genomes	European	Sub	78614	C=0.97957	T=0.02043
gnomAD v4 - Genomes	African	Sub	41520	C=0.99706	T=0.00294
gnomAD v4 - Genomes	American	Sub	15258	C=0.99273	T=0.00727
gnomAD v4 - Genomes	East Asian	Sub	5176	C=0.9994	T=0.0006
gnomAD v4 - Genomes	South Asian	Sub	4830	C=0.9839	T=0.0161
gnomAD v4 - Genomes	Ashkenazi Jewish	Sub	3472	C=0.9945	T=0.0055
gnomAD v4 - Genomes	Middle Eastern	sub	294	C=0.976	T=0.024
ExAC	Global	Study-wide	121304	C=0.984650	T=0.015350
ExAC	Europe	Sub	73312	C=0.97995	T=0.02005
ExAC	Asian	Sub	25148	C=0.98799	T=0.01201
ExAC	American	Sub	11532	C=0.99532	T=0.00468
ExAC	African	Sub	10404	C=0.99769	T=0.00231
ExAC	Other	Sub	908	C=0.987	T=0.013
The PAGE Study	Global	Study-wide	78700	C=0.99557	T=0.00443
The PAGE Study	AfricanAmerican	Sub	32516	C=0.99619	T=0.00381
The PAGE Study	Mexican	Sub	10810	C=0.99380	T=0.00620
The PAGE Study	Asian	Sub	8316	C=0.9996	T=0.0004
The PAGE Study	PuertoRican	Sub	7918	C=0.9973	T=0.0027
The PAGE Study	NativeHawaiian	Sub	4534	C=0.9971	T=0.0029
The PAGE Study	Cuban	Sub	4230	C=0.9884	T=0.0116
The PAGE Study	Dominican	Sub	3828	C=0.9943	T=0.0057
The PAGE Study	CentralAmerican	Sub	2450	C=0.9967	T=0.0033
The PAGE Study	SouthAmerican	Sub	1982	C=0.9945	T=0.0055
The PAGE Study	NativeAmerican	Sub	1260	C=0.9857	T=0.0143
The PAGE Study	SouthAsian	Sub	856	C=0.985	T=0.015
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.98431	T=0.01569
GO Exome Sequencing Project	European American	Sub	8600	C=0.9781	T=0.0219
GO Exome Sequencing Project	African American	Sub	4406	C=0.9964	T=0.0036
1000Genomes_30X	Global	Study-wide	6404	C=0.9919	T=0.0081
1000Genomes_30X	African	Sub	1786	C=0.9994	T=0.0006
1000Genomes_30X	Europe	Sub	1266	C=0.9803	T=0.0197
1000Genomes_30X	South Asian	Sub	1202	C=0.9834	T=0.0166
1000Genomes_30X	East Asian	Sub	1170	C=1.0000	T=0.0000
1000Genomes_30X	American	Sub	980	C=0.994	T=0.006
1000Genomes	Global	Study-wide	5008	C=0.9904	T=0.0096
1000Genomes	African	Sub	1322	C=0.9992	T=0.0008
1000Genomes	East Asian	Sub	1008	C=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	C=0.9761	T=0.0239
1000Genomes	South Asian	Sub	978	C=0.981	T=0.019
1000Genomes	American	Sub	694	C=0.994	T=0.006
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9812	T=0.0187
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9824	T=0.0176
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9755	T=0.0245
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9997	T=0.0003
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.979	T=0.021
Northern Sweden	ACPOP	Study-wide	600	C=0.965	T=0.035
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.993	T=0.007
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.990	T=0.010
Qatari	Global	Study-wide	216	C=0.991	T=0.009
The Danish reference pan genome	Danish	Study-wide	40	C=0.95	T=0.05
SGDP_PRJ	Global	Study-wide	18	C=0.44	T=0.56

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.97573863C>A
GRCh38.p14 chr 1	NC_000001.11:g.97573863C>G
GRCh38.p14 chr 1	NC_000001.11:g.97573863C>T
GRCh37.p13 chr 1	NC_000001.10:g.98039419C>A
GRCh37.p13 chr 1	NC_000001.10:g.98039419C>G
GRCh37.p13 chr 1	NC_000001.10:g.98039419C>T
DPYD RefSeqGene (LRG_722)	NG_008807.2:g.352197G>T
DPYD RefSeqGene (LRG_722)	NG_008807.2:g.352197G>C
DPYD RefSeqGene (LRG_722)	NG_008807.2:g.352197G>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.1236G>T	E [GAG] > D [GAT]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1	NP_000101.2:p.Glu412Asp	E (Glu) > D (Asp)	Missense Variant
DPYD transcript variant 1	NM_000110.4:c.1236G>C	E [GAG] > D [GAC]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1	NP_000101.2:p.Glu412Asp	E (Glu) > D (Asp)	Missense Variant
DPYD transcript variant 1	NM_000110.4:c.1236G>A	E [GAG] > E [GAA]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1	NP_000101.2:p.Glu412=	E (Glu) > E (Glu)	Synonymous Variant
DPYD transcript variant X2	XM_005270562.3:c.1236G>T	E [GAG] > D [GAT]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2	XP_005270619.2:p.Glu412Asp	E (Glu) > D (Asp)	Missense Variant
DPYD transcript variant X2	XM_005270562.3:c.1236G>C	E [GAG] > D [GAC]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2	XP_005270619.2:p.Glu412Asp	E (Glu) > D (Asp)	Missense Variant
DPYD transcript variant X2	XM_005270562.3:c.1236G>A	E [GAG] > E [GAA]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2	XP_005270619.2:p.Glu412=	E (Glu) > E (Glu)	Synonymous Variant
DPYD transcript variant X1	XM_017000507.2:c.1125G>T	E [GAG] > D [GAT]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1	XP_016855996.1:p.Glu375Asp	E (Glu) > D (Asp)	Missense Variant
DPYD transcript variant X1	XM_017000507.2:c.1125G>C	E [GAG] > D [GAC]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1	XP_016855996.1:p.Glu375Asp	E (Glu) > D (Asp)	Missense Variant
DPYD transcript variant X1	XM_017000507.2:c.1125G>A	E [GAG] > E [GAA]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1	XP_016855996.1:p.Glu375=	E (Glu) > E (Glu)	Synonymous Variant
DPYD transcript variant X3	XM_047448076.1:c.1008G>T	E [GAG] > D [GAT]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3	XP_047304032.1:p.Glu336Asp	E (Glu) > D (Asp)	Missense Variant
DPYD transcript variant X3	XM_047448076.1:c.1008G>C	E [GAG] > D [GAC]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3	XP_047304032.1:p.Glu336Asp	E (Glu) > D (Asp)	Missense Variant
DPYD transcript variant X3	XM_047448076.1:c.1008G>A	E [GAG] > E [GAA]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3	XP_047304032.1:p.Glu336=	E (Glu) > E (Glu)	Synonymous Variant
DPYD transcript variant X4	XM_047448077.1:c.1125G>T	E [GAG] > D [GAT]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X4	XP_047304033.1:p.Glu375Asp	E (Glu) > D (Asp)	Missense Variant
DPYD transcript variant X4	XM_047448077.1:c.1125G>C	E [GAG] > D [GAC]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X4	XP_047304033.1:p.Glu375Asp	E (Glu) > D (Asp)	Missense Variant
DPYD transcript variant X4	XM_047448077.1:c.1125G>A	E [GAG] > E [GAA]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X4	XP_047304033.1:p.Glu375=	E (Glu) > E (Glu)	Synonymous Variant
DPYD transcript variant X5	XM_006710397.4:c.1236G>T	E [GAG] > D [GAT]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X5	XP_006710460.1:p.Glu412Asp	E (Glu) > D (Asp)	Missense Variant
DPYD transcript variant X5	XM_006710397.4:c.1236G>C	E [GAG] > D [GAC]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X5	XP_006710460.1:p.Glu412Asp	E (Glu) > D (Asp)	Missense Variant
DPYD transcript variant X5	XM_006710397.4:c.1236G>A	E [GAG] > E [GAA]	Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X5	XP_006710460.1:p.Glu412=	E (Glu) > E (Glu)	Synonymous Variant
DPYD transcript variant X6	XR_001737014.2:n.	N/A	Genic Downstream 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: T (allele ID: 105977 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000086483.10	not provided	Benign
RCV000252397.6	not specified	Benign
RCV001102326.4	Dihydropyrimidine dehydrogenase deficiency	Likely-Benign
RCV001787911.3	capecitabine response - Toxicity	Drug-Response
RCV001787912.3	fluorouracil response - Toxicity	Drug-Response

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.97573863=	NC_000001.11:g.97573863C>A	NC_000001.11:g.97573863C>G	NC_000001.11:g.97573863C>T
GRCh37.p13 chr 1	NC_000001.10:g.98039419=	NC_000001.10:g.98039419C>A	NC_000001.10:g.98039419C>G	NC_000001.10:g.98039419C>T
DPYD RefSeqGene (LRG_722)	NG_008807.2:g.352197=	NG_008807.2:g.352197G>T	NG_008807.2:g.352197G>C	NG_008807.2:g.352197G>A
DPYD transcript variant 1	NM_000110.4:c.1236=	NM_000110.4:c.1236G>T	NM_000110.4:c.1236G>C	NM_000110.4:c.1236G>A
DPYD transcript variant 1	NM_000110.3:c.1236=	NM_000110.3:c.1236G>T	NM_000110.3:c.1236G>C	NM_000110.3:c.1236G>A
DPYD transcript variant X5	XM_006710397.4:c.1236=	XM_006710397.4:c.1236G>T	XM_006710397.4:c.1236G>C	XM_006710397.4:c.1236G>A
DPYD transcript variant X3	XM_006710397.3:c.1236=	XM_006710397.3:c.1236G>T	XM_006710397.3:c.1236G>C	XM_006710397.3:c.1236G>A
DPYD transcript variant X2	XM_006710397.2:c.1236=	XM_006710397.2:c.1236G>T	XM_006710397.2:c.1236G>C	XM_006710397.2:c.1236G>A
DPYD transcript variant X3	XM_006710397.1:c.1236=	XM_006710397.1:c.1236G>T	XM_006710397.1:c.1236G>C	XM_006710397.1:c.1236G>A
DPYD transcript variant X2	XM_005270562.3:c.1236=	XM_005270562.3:c.1236G>T	XM_005270562.3:c.1236G>C	XM_005270562.3:c.1236G>A
DPYD transcript variant X2	XM_005270562.2:c.1236=	XM_005270562.2:c.1236G>T	XM_005270562.2:c.1236G>C	XM_005270562.2:c.1236G>A
DPYD transcript variant X2	XM_005270562.1:c.1236=	XM_005270562.1:c.1236G>T	XM_005270562.1:c.1236G>C	XM_005270562.1:c.1236G>A
DPYD transcript variant X1	XM_017000507.2:c.1125=	XM_017000507.2:c.1125G>T	XM_017000507.2:c.1125G>C	XM_017000507.2:c.1125G>A
DPYD transcript variant X1	XM_017000507.1:c.1125=	XM_017000507.1:c.1125G>T	XM_017000507.1:c.1125G>C	XM_017000507.1:c.1125G>A
DPYD transcript variant X3	XM_047448076.1:c.1008=	XM_047448076.1:c.1008G>T	XM_047448076.1:c.1008G>C	XM_047448076.1:c.1008G>A
DPYD transcript variant X4	XM_047448077.1:c.1125=	XM_047448077.1:c.1125G>T	XM_047448077.1:c.1125G>C	XM_047448077.1:c.1125G>A
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1	NP_000101.2:p.Glu412=	NP_000101.2:p.Glu412Asp	NP_000101.2:p.Glu412Asp	NP_000101.2:p.Glu412=
dihydropyrimidine dehydrogenase [NADP(+)] isoform X5	XP_006710460.1:p.Glu412=	XP_006710460.1:p.Glu412Asp	XP_006710460.1:p.Glu412Asp	XP_006710460.1:p.Glu412=
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2	XP_005270619.2:p.Glu412=	XP_005270619.2:p.Glu412Asp	XP_005270619.2:p.Glu412Asp	XP_005270619.2:p.Glu412=
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1	XP_016855996.1:p.Glu375=	XP_016855996.1:p.Glu375Asp	XP_016855996.1:p.Glu375Asp	XP_016855996.1:p.Glu375=
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3	XP_047304032.1:p.Glu336=	XP_047304032.1:p.Glu336Asp	XP_047304032.1:p.Glu336Asp	XP_047304032.1:p.Glu336=
dihydropyrimidine dehydrogenase [NADP(+)] isoform X4	XP_047304033.1:p.Glu375=	XP_047304033.1:p.Glu375Asp	XP_047304033.1:p.Glu375Asp	XP_047304033.1:p.Glu375=
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2	XP_005270619.1:p.Glu412=	XP_005270619.1:p.Glu412Asp	XP_005270619.1:p.Glu412Asp	XP_005270619.1:p.Glu412=

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#.

80 SubSNP, 21 Frequency, 5 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	CGM_KYOTO	ss76875573	Dec 07, 2007 (129)
2	SI_EXO	ss76884319	Dec 07, 2007 (129)
3	CORNELL	ss86243072	Mar 23, 2008 (130)
4	CANCER-GENOME	ss86349230	Mar 23, 2008 (130)
5	1000GENOMES	ss230651336	Jul 14, 2010 (132)
6	NHLBI-ESP	ss341976690	May 09, 2011 (134)
7	1000GENOMES	ss489753596	May 04, 2012 (137)
8	CLINSEQ_SNP	ss491598687	May 04, 2012 (137)
9	ILLUMINA	ss536334064	Sep 08, 2015 (146)
10	EVA-GONL	ss975468154	Aug 21, 2014 (142)
11	JMKIDD_LAB	ss1067423562	Aug 21, 2014 (142)
12	JMKIDD_LAB	ss1068117145	Aug 21, 2014 (142)
13	1000GENOMES	ss1292052260	Aug 21, 2014 (142)
14	CLINVAR	ss1536213412	Dec 17, 2014 (142)
15	EVA_GENOME_DK	ss1574260385	Apr 01, 2015 (144)
16	EVA_FINRISK	ss1584009484	Apr 01, 2015 (144)
17	EVA_DECODE	ss1584845708	Apr 01, 2015 (144)
18	EVA_UK10K_ALSPAC	ss1600786970	Apr 01, 2015 (144)
19	EVA_UK10K_TWINSUK	ss1643781003	Apr 01, 2015 (144)
20	EVA_EXAC	ss1685650132	Apr 01, 2015 (144)
21	EVA_MGP	ss1710913157	Apr 01, 2015 (144)
22	WEILL_CORNELL_DGM	ss1918668589	Feb 12, 2016 (147)
23	ILLUMINA	ss1946002615	Feb 12, 2016 (147)
24	ILLUMINA	ss1958296050	Feb 12, 2016 (147)
25	HUMAN_LONGEVITY	ss2164911019	Dec 20, 2016 (150)
26	ILLUMINA	ss2632551977	Nov 08, 2017 (151)
27	ILLUMINA	ss2710678052	Nov 08, 2017 (151)
28	GNOMAD	ss2731657231	Nov 08, 2017 (151)
29	GNOMAD	ss2746378533	Nov 08, 2017 (151)
30	GNOMAD	ss2758477636	Nov 08, 2017 (151)
31	AFFY	ss2984868272	Nov 08, 2017 (151)
32	AFFY	ss2985519699	Nov 08, 2017 (151)
33	SWEGEN	ss2987283784	Nov 08, 2017 (151)
34	ILLUMINA	ss3021112932	Nov 08, 2017 (151)
35	CSHL	ss3343589650	Nov 08, 2017 (151)
36	ILLUMINA	ss3625545927	Oct 11, 2018 (152)
37	ILLUMINA	ss3626162367	Oct 11, 2018 (152)
38	ILLUMINA	ss3644498575	Oct 11, 2018 (152)
39	ILLUMINA	ss3651443581	Oct 11, 2018 (152)
40	ILLUMINA	ss3653640154	Oct 11, 2018 (152)
41	EGCUT_WGS	ss3655366683	Jul 12, 2019 (153)
42	EVA_DECODE	ss3687340724	Jul 12, 2019 (153)
43	ILLUMINA	ss3725047322	Jul 12, 2019 (153)
44	ACPOP	ss3727301971	Jul 12, 2019 (153)
45	ILLUMINA	ss3744050824	Jul 12, 2019 (153)
46	PAGE_CC	ss3770827393	Jul 12, 2019 (153)
47	EVA	ss3823633556	Apr 25, 2020 (154)
48	EVA	ss3825570046	Apr 25, 2020 (154)
49	EVA	ss3826319924	Apr 25, 2020 (154)
50	SGDP_PRJ	ss3849450298	Apr 25, 2020 (154)
51	KRGDB	ss3894525113	Apr 25, 2020 (154)
52	FSA-LAB	ss3983938261	Apr 25, 2021 (155)
53	EVA	ss3986128448	Apr 25, 2021 (155)
54	TOPMED	ss4460183037	Apr 25, 2021 (155)
55	EVA	ss6208440703	Nov 02, 2024 (157)
56	EVA	ss6284042222	Nov 02, 2024 (157)
57	EVA	ss6322091897	Nov 02, 2024 (157)
58	EVA	ss6349481122	Nov 02, 2024 (157)
59	EVA	ss6403965881	Nov 02, 2024 (157)
60	EVA	ss6404017290	Nov 02, 2024 (157)
61	GNOMAD	ss6407781454	Nov 02, 2024 (157)
62	GNOMAD	ss6407781455	Nov 02, 2024 (157)
63	GNOMAD	ss6494959765	Nov 02, 2024 (157)
64	EVA	ss8237632438	Nov 02, 2024 (157)
65	1000G_HIGH_COVERAGE	ss8243275002	Nov 02, 2024 (157)
66	EVA	ss8320583845	Nov 02, 2024 (157)
67	HUGCELL_USP	ss8444231634	Nov 02, 2024 (157)
68	EVA	ss8512473817	Nov 02, 2024 (157)
69	1000G_HIGH_COVERAGE	ss8516089572	Nov 02, 2024 (157)
70	SANFORD_IMAGENETICS	ss8624212904	Nov 02, 2024 (157)
71	SANFORD_IMAGENETICS	ss8626105467	Nov 02, 2024 (157)
72	EVA	ss8832353440	Nov 02, 2024 (157)
73	EVA	ss8847163593	Nov 02, 2024 (157)
74	EVA	ss8847548182	Nov 02, 2024 (157)
75	EVA	ss8848266005	Nov 02, 2024 (157)
76	EVA	ss8909418153	Nov 02, 2024 (157)
77	EVA	ss8935519404	Nov 02, 2024 (157)
78	EVA	ss8937964400	Nov 02, 2024 (157)
79	EVA	ss8979283137	Nov 02, 2024 (157)
80	EVA	ss8982330865	Nov 02, 2024 (157)
81	1000Genomes	NC_000001.10 - 98039419	Oct 11, 2018 (152)
82	1000Genomes_30X	NC_000001.11 - 97573863	Nov 02, 2024 (157)
83	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 98039419	Oct 11, 2018 (152)
84	Genetic variation in the Estonian population	NC_000001.10 - 98039419	Oct 11, 2018 (152)
85	ExAC	NC_000001.10 - 98039419	Oct 11, 2018 (152)
86	FINRISK	NC_000001.10 - 98039419	Apr 25, 2020 (154)
87	The Danish reference pan genome	NC_000001.10 - 98039419	Apr 25, 2020 (154)
88	gnomAD v4 - Exomes Submission ignored due to conflicting rows: Row 3079787 (NC_000001.11:97573862:C:A 1/1401112) Row 3079788 (NC_000001.11:97573862:C:T 27335/1401108)	-	Nov 02, 2024 (157)
89	gnomAD v4 - Exomes Submission ignored due to conflicting rows: Row 3079787 (NC_000001.11:97573862:C:A 1/1401112) Row 3079788 (NC_000001.11:97573862:C:T 27335/1401108)	-	Nov 02, 2024 (157)
90	gnomAD v4 - Genomes	NC_000001.11 - 97573863	Nov 02, 2024 (157)
91	GO Exome Sequencing Project	NC_000001.10 - 98039419	Oct 11, 2018 (152)
92	Genome of the Netherlands Release 5	NC_000001.10 - 98039419	Apr 25, 2020 (154)
93	KOREAN population from KRGDB	NC_000001.10 - 98039419	Apr 25, 2020 (154)
94	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 98039419	Apr 25, 2020 (154)
95	Northern Sweden	NC_000001.10 - 98039419	Jul 12, 2019 (153)
96	The PAGE Study	NC_000001.11 - 97573863	Jul 12, 2019 (153)
97	Qatari	NC_000001.10 - 98039419	Apr 25, 2020 (154)
98	SGDP_PRJ	NC_000001.10 - 98039419	Apr 25, 2020 (154)
99	TopMed	NC_000001.11 - 97573863	Apr 25, 2021 (155)
100	UK 10K study - Twins	NC_000001.10 - 98039419	Oct 11, 2018 (152)
101	ALFA	NC_000001.11 - 97573863	Nov 02, 2024 (157)
102	ClinVar	RCV000086483.10	Nov 02, 2024 (157)
103	ClinVar	RCV000252397.6	Nov 02, 2024 (157)
104	ClinVar	RCV001102326.4	Nov 02, 2024 (157)
105	ClinVar	RCV001787911.3	Nov 02, 2024 (157)
106	ClinVar	RCV001787912.3	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)
rs61730901	May 24, 2008 (130)
rs199469533	Dec 28, 2011 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss6407781454	NC_000001.11:97573862:C:A	NC_000001.11:97573862:C:A
ss8935519404	NC_000001.10:98039418:C:G	NC_000001.11:97573862:C:G	(self)
ss491598687, ss1584845708	NC_000001.9:97812006:C:T	NC_000001.11:97573862:C:T	(self)
2813982, 1551233, 1104931, 4856048, 5945, 1623066, 92190, 672538, 1702507, 29909, 586836, 710519, 1467278, 1551233, ss230651336, ss341976690, ss489753596, ss536334064, ss975468154, ss1067423562, ss1068117145, ss1292052260, ss1574260385, ss1584009484, ss1600786970, ss1643781003, ss1685650132, ss1710913157, ss1918668589, ss1946002615, ss1958296050, ss2632551977, ss2710678052, ss2731657231, ss2746378533, ss2758477636, ss2984868272, ss2985519699, ss2987283784, ss3021112932, ss3343589650, ss3625545927, ss3626162367, ss3644498575, ss3651443581, ss3653640154, ss3655366683, ss3727301971, ss3744050824, ss3823633556, ss3825570046, ss3826319924, ss3849450298, ss3894525113, ss3983938261, ss3986128448, ss6208440703, ss6284042222, ss6322091897, ss6349481122, ss6403965881, ss8320583845, ss8512473817, ss8624212904, ss8626105467, ss8832353440, ss8847163593, ss8847548182, ss8848266005, ss8935519404, ss8937964400, ss8979283137, ss8982330865	NC_000001.10:98039418:C:T	NC_000001.11:97573862:C:T	(self)
RCV000086483.10, RCV000252397.6, RCV001102326.4, RCV001787911.3, RCV001787912.3, 3615507, 21274545, 48862, 23789372, 7973441408, ss1536213412, ss2164911019, ss3687340724, ss3725047322, ss3770827393, ss4460183037, ss6404017290, ss6407781455, ss6494959765, ss8237632438, ss8243275002, ss8444231634, ss8516089572, ss8909418153	NC_000001.11:97573862:C:T	NC_000001.11:97573862:C:T	(self)
ss76884319	NT_032977.8:68011337:C:T	NC_000001.11:97573862:C:T	(self)
ss76875573, ss86243072, ss86349230	NT_032977.9:68011336:C:T	NC_000001.11:97573862:C:T	(self)

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

10 citations for rs56038477

PMID	Title	Author	Year	Journal
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
30348537	DPYD genotype-guided dose individualisation of fluoropyrimidine therapy in patients with cancer: a prospective safety analysis.	Henricks LM et al.	2018	The Lancet. Oncology
32619063	Impact of DPYD, DPYS, and UPB1 gene variations on severe drug-related toxicity in patients with cancer.	Yokoi K et al.	2020	Cancer science
32625092	Germline and Somatic Pharmacogenomics to Refine Rectal Cancer Patients Selection for Neo-Adjuvant Chemoradiotherapy.	De Mattia E et al.	2020	Frontiers in pharmacology
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
35089958	Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.	Goljan E et al.	2022	PloS one
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.)
36164570	Prevalence of exposure to pharmacogenetic drugs by the Saudis treated at the health care centers of the Ministry of National Guard.	Alshabeeb MA et al.	2022	Saudi pharmaceutical journal
36980706	Influence of Single-Nucleotide Polymorphisms on Clinical Outcomes of Capecitabine-Based Chemotherapy in Colorectal Cancer Patients: A Systematic Review.	Cura Y et al.	2023	Cancers
38004528	Association of Single-Nucleotide Polymorphisms in Capecitabine Bioactivation Pathway with Adjuvant Therapy Safety in Colorectal Cancer Patients.	Cura Y et al.	2023	Pharmaceutics

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs56038477