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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1801160

Current Build 157

Released September 3, 2024

Organism
Homo sapiens
Position
chr1:97305364 (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=0.0470975 (65936/1399990, GnomAD_exomes)
T=0.040670 (10765/264690, TOPMED)
T=0.050123 (11993/239272, ALFA) (+ 24 more)
T=0.039929 (5947/148940, GnomAD_genomes)
T=0.046473 (5630/121146, ExAC)
T=0.03499 (2754/78702, PAGE_STUDY)
T=0.01710 (1324/77428, 38KJPN)
T=0.04137 (538/13006, GO-ESP)
T=0.0200 (145/7232, Korea4K)
T=0.0433 (277/6404, 1000G_30X)
T=0.0439 (220/5008, 1000G)
T=0.0286 (128/4480, Estonian)
T=0.0423 (163/3854, ALSPAC)
T=0.0369 (137/3708, TWINSUK)
T=0.0294 (97/3300, PRJNA289433)
T=0.0205 (60/2922, KOREAN)
T=0.0197 (36/1832, Korea1K)
T=0.043 (43/998, GoNL)
T=0.028 (17/614, Vietnamese)
T=0.030 (18/600, NorthernSweden)
T=0.064 (34/534, MGP)
T=0.026 (8/304, FINRISK)
T=0.111 (24/216, Qatari)
C=0.46 (24/52, SGDP_PRJ)
T=0.07 (3/40, GENOME_DK)
C=0.5 (1/2, Siberian)
T=0.5 (1/2, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
DPYD : Missense Variant
DPYD-AS1 : Intron Variant
Publications
26 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 239272 C=0.949877 T=0.050123 0.902722 0.002967 0.094311 6
European Sub 202338 C=0.948808 T=0.051192 0.900503 0.002886 0.096611 2
African Sub 9830 C=0.9722 T=0.0278 0.94588 0.001424 0.052696 2
African Others Sub 360 C=0.986 T=0.014 0.972222 0.0 0.027778 0
African American Sub 9470 C=0.9717 T=0.0283 0.944879 0.001478 0.053643 2
Asian Sub 6398 C=0.9737 T=0.0263 0.949359 0.001876 0.048765 4
East Asian Sub 4548 C=0.9837 T=0.0163 0.968338 0.00088 0.030783 2
Other Asian Sub 1850 C=0.9492 T=0.0508 0.902703 0.004324 0.092973 1
Latin American 1 Sub 804 C=0.935 T=0.065 0.873134 0.002488 0.124378 0
Latin American 2 Sub 974 C=0.964 T=0.036 0.930185 0.002053 0.067762 0
South Asian Sub 280 C=0.911 T=0.089 0.828571 0.007143 0.164286 0
Other Sub 18648 C=0.94198 T=0.05802 0.888996 0.005041 0.105963 5


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 1399990 C=0.9529025 T=0.0470975
gnomAD v4 - Exomes European Sub 1164274 C=0.9559975 T=0.0440025
gnomAD v4 - Exomes South Asian Sub 86246 C=0.90357 T=0.09643
gnomAD v4 - Exomes American Sub 44638 C=0.97213 T=0.02787
gnomAD v4 - Exomes East Asian Sub 39652 C=0.98096 T=0.01904
gnomAD v4 - Exomes African Sub 33378 C=0.97441 T=0.02559
gnomAD v4 - Exomes Ashkenazi Jewish Sub 26052 C=0.89199 T=0.10801
gnomAD v4 - Exomes Middle Eastern sub 5750 C=0.8746 T=0.1254
TopMed Global Study-wide 264690 C=0.959330 T=0.040670
Allele Frequency Aggregator Total Global 239272 C=0.949877 T=0.050123
Allele Frequency Aggregator European Sub 202338 C=0.948808 T=0.051192
Allele Frequency Aggregator Other Sub 18648 C=0.94198 T=0.05802
Allele Frequency Aggregator African Sub 9830 C=0.9722 T=0.0278
Allele Frequency Aggregator Asian Sub 6398 C=0.9737 T=0.0263
Allele Frequency Aggregator Latin American 2 Sub 974 C=0.964 T=0.036
Allele Frequency Aggregator Latin American 1 Sub 804 C=0.935 T=0.065
Allele Frequency Aggregator South Asian Sub 280 C=0.911 T=0.089
gnomAD v4 - Genomes Global Study-wide 148940 C=0.960071 T=0.039929
gnomAD v4 - Genomes European Sub 78502 C=0.95791 T=0.04209
gnomAD v4 - Genomes African Sub 41518 C=0.97550 T=0.02450
gnomAD v4 - Genomes American Sub 15224 C=0.95409 T=0.04591
gnomAD v4 - Genomes East Asian Sub 5132 C=0.9846 T=0.0154
gnomAD v4 - Genomes South Asian Sub 4806 C=0.9070 T=0.0930
gnomAD v4 - Genomes Ashkenazi Jewish Sub 3464 C=0.8932 T=0.1068
gnomAD v4 - Genomes Middle Eastern sub 294 C=0.895 T=0.105
ExAC Global Study-wide 121146 C=0.953527 T=0.046473
ExAC Europe Sub 73292 C=0.95534 T=0.04466
ExAC Asian Sub 25092 C=0.93034 T=0.06966
ExAC American Sub 11452 C=0.97590 T=0.02410
ExAC African Sub 10404 C=0.97443 T=0.02557
ExAC Other Sub 906 C=0.926 T=0.074
The PAGE Study Global Study-wide 78702 C=0.96501 T=0.03499
The PAGE Study AfricanAmerican Sub 32516 C=0.97352 T=0.02648
The PAGE Study Mexican Sub 10810 C=0.97160 T=0.02840
The PAGE Study Asian Sub 8318 C=0.9792 T=0.0208
The PAGE Study PuertoRican Sub 7918 C=0.9302 T=0.0698
The PAGE Study NativeHawaiian Sub 4534 C=0.9532 T=0.0468
The PAGE Study Cuban Sub 4230 C=0.9414 T=0.0586
The PAGE Study Dominican Sub 3828 C=0.9616 T=0.0384
The PAGE Study CentralAmerican Sub 2450 C=0.9727 T=0.0273
The PAGE Study SouthAmerican Sub 1982 C=0.9642 T=0.0358
The PAGE Study NativeAmerican Sub 1260 C=0.9746 T=0.0254
The PAGE Study SouthAsian Sub 856 C=0.903 T=0.097
38KJPN JAPANESE Study-wide 77428 C=0.98290 T=0.01710
GO Exome Sequencing Project Global Study-wide 13006 C=0.95863 T=0.04137
GO Exome Sequencing Project European American Sub 8600 C=0.9533 T=0.0467
GO Exome Sequencing Project African American Sub 4406 C=0.9691 T=0.0309
Korean Genome Project 4K KOREAN Study-wide 7232 C=0.9800 T=0.0200
1000Genomes_30X Global Study-wide 6404 C=0.9567 T=0.0433
1000Genomes_30X African Sub 1786 C=0.9765 T=0.0235
1000Genomes_30X Europe Sub 1266 C=0.9494 T=0.0506
1000Genomes_30X South Asian Sub 1202 C=0.9151 T=0.0849
1000Genomes_30X East Asian Sub 1170 C=0.9821 T=0.0179
1000Genomes_30X American Sub 980 C=0.951 T=0.049
1000Genomes Global Study-wide 5008 C=0.9561 T=0.0439
1000Genomes African Sub 1322 C=0.9758 T=0.0242
1000Genomes East Asian Sub 1008 C=0.9851 T=0.0149
1000Genomes Europe Sub 1006 C=0.9503 T=0.0497
1000Genomes South Asian Sub 978 C=0.913 T=0.087
1000Genomes American Sub 694 C=0.945 T=0.055
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9714 T=0.0286
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9577 T=0.0423
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9631 T=0.0369
MxGDAR/Encodat-PGx Global Study-wide 3300 C=0.9706 T=0.0294
MxGDAR/Encodat-PGx MxGDAR Sub 3300 C=0.9706 T=0.0294
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9795 T=0.0205
Korean Genome Project KOREAN Study-wide 1832 C=0.9803 T=0.0197
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.957 T=0.043
A Vietnamese Genetic Variation Database Global Study-wide 614 C=0.972 T=0.028
Northern Sweden ACPOP Study-wide 600 C=0.970 T=0.030
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.936 T=0.064
FINRISK Finnish from FINRISK project Study-wide 304 C=0.974 T=0.026
Qatari Global Study-wide 216 C=0.889 T=0.111
SGDP_PRJ Global Study-wide 52 C=0.46 T=0.54
The Danish reference pan genome Danish Study-wide 40 C=0.93 T=0.07
Siberian Global Study-wide 2 C=0.5 T=0.5
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.97305364C>A
GRCh38.p14 chr 1 NC_000001.11:g.97305364C>G
GRCh38.p14 chr 1 NC_000001.11:g.97305364C>T
GRCh37.p13 chr 1 NC_000001.10:g.97770920C>A
GRCh37.p13 chr 1 NC_000001.10:g.97770920C>G
GRCh37.p13 chr 1 NC_000001.10:g.97770920C>T
DPYD RefSeqGene (LRG_722) NG_008807.2:g.620696G>T
DPYD RefSeqGene (LRG_722) NG_008807.2:g.620696G>C
DPYD RefSeqGene (LRG_722) NG_008807.2:g.620696G>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.2194G>T V [GTT] > F [TTT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 NP_000101.2:p.Val732Phe V (Val) > F (Phe) Missense Variant
DPYD transcript variant 1 NM_000110.4:c.2194G>C V [GTT] > L [CTT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 NP_000101.2:p.Val732Leu V (Val) > L (Leu) Missense Variant
DPYD transcript variant 1 NM_000110.4:c.2194G>A V [GTT] > I [ATT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 NP_000101.2:p.Val732Ile V (Val) > I (Ile) Missense Variant
DPYD transcript variant X2 XM_005270562.3:c.1978G>T V [GTT] > F [TTT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2 XP_005270619.2:p.Val660Phe V (Val) > F (Phe) Missense Variant
DPYD transcript variant X2 XM_005270562.3:c.1978G>C V [GTT] > L [CTT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2 XP_005270619.2:p.Val660Leu V (Val) > L (Leu) Missense Variant
DPYD transcript variant X2 XM_005270562.3:c.1978G>A V [GTT] > I [ATT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2 XP_005270619.2:p.Val660Ile V (Val) > I (Ile) Missense Variant
DPYD transcript variant X1 XM_017000507.2:c.2083G>T V [GTT] > F [TTT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1 XP_016855996.1:p.Val695Phe V (Val) > F (Phe) Missense Variant
DPYD transcript variant X1 XM_017000507.2:c.2083G>C V [GTT] > L [CTT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1 XP_016855996.1:p.Val695Leu V (Val) > L (Leu) Missense Variant
DPYD transcript variant X1 XM_017000507.2:c.2083G>A V [GTT] > I [ATT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1 XP_016855996.1:p.Val695Ile V (Val) > I (Ile) Missense Variant
DPYD transcript variant X3 XM_047448076.1:c.1966G>T V [GTT] > F [TTT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3 XP_047304032.1:p.Val656Phe V (Val) > F (Phe) Missense Variant
DPYD transcript variant X3 XM_047448076.1:c.1966G>C V [GTT] > L [CTT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3 XP_047304032.1:p.Val656Leu V (Val) > L (Leu) Missense Variant
DPYD transcript variant X3 XM_047448076.1:c.1966G>A V [GTT] > I [ATT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3 XP_047304032.1:p.Val656Ile V (Val) > I (Ile) Missense Variant
DPYD transcript variant X4 XM_047448077.1:c.1867G>T V [GTT] > F [TTT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X4 XP_047304033.1:p.Val623Phe V (Val) > F (Phe) Missense Variant
DPYD transcript variant X4 XM_047448077.1:c.1867G>C V [GTT] > L [CTT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X4 XP_047304033.1:p.Val623Leu V (Val) > L (Leu) Missense Variant
DPYD transcript variant X4 XM_047448077.1:c.1867G>A V [GTT] > I [ATT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X4 XP_047304033.1:p.Val623Ile V (Val) > I (Ile) Missense Variant
DPYD transcript variant X5 XM_006710397.4:c.2194G>T V [GTT] > F [TTT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X5 XP_006710460.1:p.Val732Phe V (Val) > F (Phe) Missense Variant
DPYD transcript variant X5 XM_006710397.4:c.2194G>C V [GTT] > L [CTT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X5 XP_006710460.1:p.Val732Leu V (Val) > L (Leu) Missense Variant
DPYD transcript variant X5 XM_006710397.4:c.2194G>A V [GTT] > I [ATT] Coding Sequence Variant
dihydropyrimidine dehydrogenase [NADP(+)] isoform X5 XP_006710460.1:p.Val732Ile V (Val) > I (Ile) Missense Variant
DPYD transcript variant X6 XR_001737014.2:n. N/A Genic Downstream Transcript Variant
Gene: DPYD-AS1, DPYD antisense RNA 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DPYD-AS1 transcript NR_046590.1:n. N/A Intron Variant
Help

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

Allele: T (allele ID: 105957 )
ClinVar Accession Disease Names Clinical Significance
RCV000086462.9 not provided Benign
RCV000249656.10 not specified Benign
RCV000407597.5 Dihydropyrimidine dehydrogenase deficiency Likely-Benign
RCV001787902.1 fluorouracil response - Other Drug-Response
RCV001787903.2 capecitabine response - Toxicity Drug-Response
RCV001787904.2 fluorouracil response - Toxicity Drug-Response
RCV003891585.1 DPYD-related disorder Likely-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.97305364= NC_000001.11:g.97305364C>A NC_000001.11:g.97305364C>G NC_000001.11:g.97305364C>T
GRCh37.p13 chr 1 NC_000001.10:g.97770920= NC_000001.10:g.97770920C>A NC_000001.10:g.97770920C>G NC_000001.10:g.97770920C>T
DPYD RefSeqGene (LRG_722) NG_008807.2:g.620696= NG_008807.2:g.620696G>T NG_008807.2:g.620696G>C NG_008807.2:g.620696G>A
DPYD transcript variant 1 NM_000110.4:c.2194= NM_000110.4:c.2194G>T NM_000110.4:c.2194G>C NM_000110.4:c.2194G>A
DPYD transcript variant 1 NM_000110.3:c.2194= NM_000110.3:c.2194G>T NM_000110.3:c.2194G>C NM_000110.3:c.2194G>A
DPYD transcript variant X5 XM_006710397.4:c.2194= XM_006710397.4:c.2194G>T XM_006710397.4:c.2194G>C XM_006710397.4:c.2194G>A
DPYD transcript variant X3 XM_006710397.3:c.2194= XM_006710397.3:c.2194G>T XM_006710397.3:c.2194G>C XM_006710397.3:c.2194G>A
DPYD transcript variant X2 XM_006710397.2:c.2194= XM_006710397.2:c.2194G>T XM_006710397.2:c.2194G>C XM_006710397.2:c.2194G>A
DPYD transcript variant X3 XM_006710397.1:c.2194= XM_006710397.1:c.2194G>T XM_006710397.1:c.2194G>C XM_006710397.1:c.2194G>A
DPYD transcript variant X2 XM_005270562.3:c.1978= XM_005270562.3:c.1978G>T XM_005270562.3:c.1978G>C XM_005270562.3:c.1978G>A
DPYD transcript variant X2 XM_005270562.2:c.1978= XM_005270562.2:c.1978G>T XM_005270562.2:c.1978G>C XM_005270562.2:c.1978G>A
DPYD transcript variant X2 XM_005270562.1:c.1978= XM_005270562.1:c.1978G>T XM_005270562.1:c.1978G>C XM_005270562.1:c.1978G>A
DPYD transcript variant X1 XM_017000507.2:c.2083= XM_017000507.2:c.2083G>T XM_017000507.2:c.2083G>C XM_017000507.2:c.2083G>A
DPYD transcript variant X1 XM_017000507.1:c.2083= XM_017000507.1:c.2083G>T XM_017000507.1:c.2083G>C XM_017000507.1:c.2083G>A
DPYD transcript variant X3 XM_047448076.1:c.1966= XM_047448076.1:c.1966G>T XM_047448076.1:c.1966G>C XM_047448076.1:c.1966G>A
DPYD transcript variant X4 XM_047448077.1:c.1867= XM_047448077.1:c.1867G>T XM_047448077.1:c.1867G>C XM_047448077.1:c.1867G>A
dihydropyrimidine dehydrogenase [NADP(+)] isoform 1 NP_000101.2:p.Val732= NP_000101.2:p.Val732Phe NP_000101.2:p.Val732Leu NP_000101.2:p.Val732Ile
dihydropyrimidine dehydrogenase [NADP(+)] isoform X5 XP_006710460.1:p.Val732= XP_006710460.1:p.Val732Phe XP_006710460.1:p.Val732Leu XP_006710460.1:p.Val732Ile
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2 XP_005270619.2:p.Val660= XP_005270619.2:p.Val660Phe XP_005270619.2:p.Val660Leu XP_005270619.2:p.Val660Ile
dihydropyrimidine dehydrogenase [NADP(+)] isoform X1 XP_016855996.1:p.Val695= XP_016855996.1:p.Val695Phe XP_016855996.1:p.Val695Leu XP_016855996.1:p.Val695Ile
dihydropyrimidine dehydrogenase [NADP(+)] isoform X3 XP_047304032.1:p.Val656= XP_047304032.1:p.Val656Phe XP_047304032.1:p.Val656Leu XP_047304032.1:p.Val656Ile
dihydropyrimidine dehydrogenase [NADP(+)] isoform X4 XP_047304033.1:p.Val623= XP_047304033.1:p.Val623Phe XP_047304033.1:p.Val623Leu XP_047304033.1:p.Val623Ile
dihydropyrimidine dehydrogenase [NADP(+)] isoform X2 XP_005270619.1:p.Val660= XP_005270619.1:p.Val660Phe XP_005270619.1:p.Val660Leu XP_005270619.1:p.Val660Ile
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#.

123 SubSNP, 26 Frequency, 7 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CORNELL ss86237232 Mar 23, 2008 (129)
2 CANCER-GENOME ss86342029 Mar 23, 2008 (129)
3 SEATTLESEQ ss159698104 Dec 01, 2009 (131)
4 1000GENOMES ss230650502 Jul 14, 2010 (132)
5 NHLBI-ESP ss341976617 May 09, 2011 (134)
6 1000GENOMES ss489753540 May 04, 2012 (137)
7 EXOME_CHIP ss491297106 May 04, 2012 (137)
8 CLINSEQ_SNP ss491598669 May 04, 2012 (137)
9 ILLUMINA ss536447695 Sep 08, 2015 (146)
10 SSMP ss648243125 Apr 25, 2013 (138)
11 ILLUMINA ss780879233 Sep 08, 2015 (146)
12 ILLUMINA ss783564825 Sep 08, 2015 (146)
13 EVA-GONL ss975466004 Aug 21, 2014 (142)
14 JMKIDD_LAB ss1067423555 Aug 21, 2014 (142)
15 JMKIDD_LAB ss1068115573 Aug 21, 2014 (142)
16 1000GENOMES ss1292044731 Aug 21, 2014 (142)
17 DDI ss1425906915 Apr 01, 2015 (144)
18 CLINVAR ss1536213393 Dec 17, 2014 (142)
19 EVA_GENOME_DK ss1574258809 Apr 01, 2015 (144)
20 EVA_FINRISK ss1584009477 Apr 01, 2015 (144)
21 EVA_DECODE ss1584843466 Apr 01, 2015 (144)
22 EVA_UK10K_ALSPAC ss1600782846 Apr 01, 2015 (144)
23 EVA_UK10K_TWINSUK ss1643776879 Apr 01, 2015 (144)
24 EVA_EXAC ss1685649819 Apr 01, 2015 (144)
25 EVA_MGP ss1710913131 Apr 01, 2015 (144)
26 ILLUMINA ss1751940883 Sep 08, 2015 (146)
27 ILLUMINA ss1917731602 Feb 12, 2016 (147)
28 WEILL_CORNELL_DGM ss1918666620 Feb 12, 2016 (147)
29 ILLUMINA ss1946002568 Feb 12, 2016 (147)
30 ILLUMINA ss1946002569 Feb 12, 2016 (147)
31 ILLUMINA ss1958295929 Feb 12, 2016 (147)
32 ILLUMINA ss1958295930 Feb 12, 2016 (147)
33 AMU ss1966654228 Feb 12, 2016 (147)
34 JJLAB ss2019854516 Sep 14, 2016 (149)
35 USC_VALOUEV ss2147873359 Dec 20, 2016 (150)
36 HUMAN_LONGEVITY ss2164894675 Dec 20, 2016 (150)
37 ILLUMINA ss2632551621 Nov 08, 2017 (151)
38 GRF ss2697800468 Nov 08, 2017 (151)
39 ILLUMINA ss2710678011 Nov 08, 2017 (151)
40 GNOMAD ss2731656769 Nov 08, 2017 (151)
41 GNOMAD ss2746378391 Nov 08, 2017 (151)
42 GNOMAD ss2758455540 Nov 08, 2017 (151)
43 AFFY ss2984868223 Nov 08, 2017 (151)
44 AFFY ss2985519653 Nov 08, 2017 (151)
45 SWEGEN ss2987280518 Nov 08, 2017 (151)
46 ILLUMINA ss3021112800 Nov 08, 2017 (151)
47 ILLUMINA ss3021112801 Nov 08, 2017 (151)
48 CSIRBIOHTS ss3029637186 Nov 08, 2017 (151)
49 CSHL ss3343588618 Nov 08, 2017 (151)
50 ILLUMINA ss3625545894 Oct 11, 2018 (152)
51 ILLUMINA ss3626161795 Oct 11, 2018 (152)
52 ILLUMINA ss3626161796 Oct 11, 2018 (152)
53 ILLUMINA ss3634338344 Oct 11, 2018 (152)
54 ILLUMINA ss3640045704 Oct 11, 2018 (152)
55 ILLUMINA ss3644498528 Oct 11, 2018 (152)
56 ILLUMINA ss3644498529 Oct 11, 2018 (152)
57 BIOINF_KMB_FNS_UNIBA ss3645059771 Oct 11, 2018 (152)
58 OMUKHERJEE_ADBS ss3646233640 Oct 11, 2018 (152)
59 ILLUMINA ss3651443426 Oct 11, 2018 (152)
60 ILLUMINA ss3651443427 Oct 11, 2018 (152)
61 ILLUMINA ss3653640098 Oct 11, 2018 (152)
62 EGCUT_WGS ss3655363258 Jul 12, 2019 (153)
63 EVA_DECODE ss3687336880 Jul 12, 2019 (153)
64 ILLUMINA ss3725047203 Jul 12, 2019 (153)
65 ACPOP ss3727300088 Jul 12, 2019 (153)
66 ILLUMINA ss3744050794 Jul 12, 2019 (153)
67 ILLUMINA ss3744348627 Jul 12, 2019 (153)
68 ILLUMINA ss3744639317 Jul 12, 2019 (153)
69 EVA ss3746555641 Jul 12, 2019 (153)
70 PAGE_CC ss3770827301 Jul 12, 2019 (153)
71 ILLUMINA ss3772140556 Jul 12, 2019 (153)
72 KHV_HUMAN_GENOMES ss3799557122 Jul 12, 2019 (153)
73 EVA ss3823633476 Apr 25, 2020 (154)
74 EVA ss3825570030 Apr 25, 2020 (154)
75 EVA ss3826318954 Apr 25, 2020 (154)
76 SGDP_PRJ ss3849446400 Apr 25, 2020 (154)
77 KRGDB ss3894520663 Apr 25, 2020 (154)
78 KOGIC ss3945063751 Apr 25, 2020 (154)
79 FSA-LAB ss3983938241 Apr 25, 2021 (155)
80 FSA-LAB ss3983938242 Apr 25, 2021 (155)
81 EVA ss3984447062 Apr 25, 2021 (155)
82 EVA ss3986128424 Apr 25, 2021 (155)
83 TOPMED ss4460113679 Apr 25, 2021 (155)
84 EVA ss6208433220 Nov 02, 2024 (157)
85 EVA ss6284038584 Nov 02, 2024 (157)
86 EVA ss6322091869 Nov 02, 2024 (157)
87 YEGNASUBRAMANIAN_LAB ss6334272856 Nov 02, 2024 (157)
88 EVA ss6349481047 Nov 02, 2024 (157)
89 KOGIC ss6351998976 Nov 02, 2024 (157)
90 EVA ss6403965851 Nov 02, 2024 (157)
91 EVA ss6404017275 Nov 02, 2024 (157)
92 GNOMAD ss6407778568 Nov 02, 2024 (157)
93 GNOMAD ss6494899143 Nov 02, 2024 (157)
94 TOMMO_GENOMICS ss8145243741 Nov 02, 2024 (157)
95 EVA ss8236871138 Nov 02, 2024 (157)
96 EVA ss8237632433 Nov 02, 2024 (157)
97 1000G_HIGH_COVERAGE ss8243268487 Nov 02, 2024 (157)
98 TRAN_CS_UWATERLOO ss8314396336 Nov 02, 2024 (157)
99 EVA ss8314636907 Nov 02, 2024 (157)
100 EVA ss8320571763 Nov 02, 2024 (157)
101 HUGCELL_USP ss8444225829 Nov 02, 2024 (157)
102 EVA ss8512473799 Nov 02, 2024 (157)
103 1000G_HIGH_COVERAGE ss8516079296 Nov 02, 2024 (157)
104 SANFORD_IMAGENETICS ss8624212839 Nov 02, 2024 (157)
105 SANFORD_IMAGENETICS ss8626101788 Nov 02, 2024 (157)
106 TOMMO_GENOMICS ss8670383989 Nov 02, 2024 (157)
107 YY_MCH ss8800847089 Nov 02, 2024 (157)
108 EVA ss8832350780 Nov 02, 2024 (157)
109 EVA ss8847163548 Nov 02, 2024 (157)
110 EVA ss8847548113 Nov 02, 2024 (157)
111 EVA ss8848265986 Nov 02, 2024 (157)
112 EVA ss8849027752 Nov 02, 2024 (157)
113 EVA ss8909410649 Nov 02, 2024 (157)
114 EVA ss8935518838 Nov 02, 2024 (157)
115 EVA ss8937960491 Nov 02, 2024 (157)
116 EVA ss8979283059 Nov 02, 2024 (157)
117 EVA ss8981422808 Nov 02, 2024 (157)
118 EVA ss8981700512 Nov 02, 2024 (157)
119 EVA ss8981700513 Nov 02, 2024 (157)
120 EVA ss8982017092 Nov 02, 2024 (157)
121 LNCC-LABINFO ss8982072041 Nov 02, 2024 (157)
122 EVA ss8982330779 Nov 02, 2024 (157)
123 TOMMO_GENOMICS ss8989718287 Nov 02, 2024 (157)
124 1000Genomes NC_000001.10 - 97770920 Oct 11, 2018 (152)
125 1000Genomes_30X NC_000001.11 - 97305364 Nov 02, 2024 (157)
126 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 97770920 Oct 11, 2018 (152)
127 Genetic variation in the Estonian population NC_000001.10 - 97770920 Oct 11, 2018 (152)
128 ExAC NC_000001.10 - 97770920 Oct 11, 2018 (152)
129 FINRISK NC_000001.10 - 97770920 Apr 25, 2020 (154)
130 The Danish reference pan genome NC_000001.10 - 97770920 Apr 25, 2020 (154)
131 gnomAD v4 - Exomes NC_000001.11 - 97305364 Nov 02, 2024 (157)
132 gnomAD v4 - Genomes NC_000001.11 - 97305364 Nov 02, 2024 (157)
133 GO Exome Sequencing Project NC_000001.10 - 97770920 Oct 11, 2018 (152)
134 Genome of the Netherlands Release 5 NC_000001.10 - 97770920 Apr 25, 2020 (154)
135 KOREAN population from KRGDB NC_000001.10 - 97770920 Apr 25, 2020 (154)
136 Korean Genome Project NC_000001.11 - 97305364 Apr 25, 2020 (154)
137 Korean Genome Project 4K NC_000001.11 - 97305364 Nov 02, 2024 (157)
138 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 97770920 Apr 25, 2020 (154)
139 Northern Sweden NC_000001.10 - 97770920 Jul 12, 2019 (153)
140 The PAGE Study NC_000001.11 - 97305364 Jul 12, 2019 (153)
141 MxGDAR/Encodat-PGx NC_000001.10 - 97770920 Apr 25, 2021 (155)
142 Qatari NC_000001.10 - 97770920 Apr 25, 2020 (154)
143 SGDP_PRJ NC_000001.10 - 97770920 Apr 25, 2020 (154)
144 Siberian NC_000001.10 - 97770920 Apr 25, 2020 (154)
145 38KJPN NC_000001.11 - 97305364 Nov 02, 2024 (157)
146 TopMed NC_000001.11 - 97305364 Apr 25, 2021 (155)
147 UK 10K study - Twins NC_000001.10 - 97770920 Oct 11, 2018 (152)
148 A Vietnamese Genetic Variation Database NC_000001.10 - 97770920 Jul 12, 2019 (153)
149 ALFA NC_000001.11 - 97305364 Nov 02, 2024 (157)
150 ClinVar RCV000086462.9 Nov 02, 2024 (157)
151 ClinVar RCV000249656.10 Nov 02, 2024 (157)
152 ClinVar RCV000407597.5 Nov 02, 2024 (157)
153 ClinVar RCV001787902.1 Oct 12, 2022 (156)
154 ClinVar RCV001787903.2 Nov 02, 2024 (157)
155 ClinVar RCV001787904.2 Nov 02, 2024 (157)
156 ClinVar RCV003891585.1 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)
rs12720467 Oct 07, 2004 (123)
rs12720468 Oct 07, 2004 (123)
rs199469554 Dec 28, 2011 (136)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss6349481047 NC_000001.10:97770919:C:A NC_000001.11:97305363:C:A
ss6349481047, ss8935518838 NC_000001.10:97770919:C:G NC_000001.11:97305363:C:G (self)
ss491598669, ss1584843466 NC_000001.9:97543507:C:T NC_000001.11:97305363:C:T (self)
2806174, 1546730, 1101506, 4855715, 5938, 1622086, 92110, 670423, 1698057, 29883, 584953, 63, 708550, 1463380, 389713, 1546730, 332758, ss230650502, ss341976617, ss489753540, ss491297106, ss536447695, ss648243125, ss780879233, ss783564825, ss975466004, ss1067423555, ss1068115573, ss1292044731, ss1425906915, ss1574258809, ss1584009477, ss1600782846, ss1643776879, ss1685649819, ss1710913131, ss1751940883, ss1917731602, ss1918666620, ss1946002568, ss1946002569, ss1958295929, ss1958295930, ss1966654228, ss2019854516, ss2147873359, ss2632551621, ss2697800468, ss2710678011, ss2731656769, ss2746378391, ss2758455540, ss2984868223, ss2985519653, ss2987280518, ss3021112800, ss3021112801, ss3029637186, ss3343588618, ss3625545894, ss3626161795, ss3626161796, ss3634338344, ss3640045704, ss3644498528, ss3644498529, ss3646233640, ss3651443426, ss3651443427, ss3653640098, ss3655363258, ss3727300088, ss3744050794, ss3744348627, ss3744639317, ss3746555641, ss3772140556, ss3823633476, ss3825570030, ss3826318954, ss3849446400, ss3894520663, ss3983938241, ss3983938242, ss3984447062, ss3986128424, ss6208433220, ss6284038584, ss6322091869, ss6334272856, ss6403965851, ss8145243741, ss8314636907, ss8320571763, ss8512473799, ss8624212839, ss8626101788, ss8832350780, ss8847163548, ss8847548113, ss8848265986, ss8935518838, ss8937960491, ss8979283059, ss8981422808, ss8981700512, ss8981700513, ss8982330779 NC_000001.10:97770919:C:T NC_000001.11:97305363:C:T (self)
RCV000086462.9, RCV000249656.10, RCV000407597.5, RCV001787902.1, RCV001787903.2, RCV001787904.2, RCV003891585.1, 3605231, 3076900, 21213776, 1441752, 1850874, 48770, 7094107, 23720014, 7209739266, ss1536213393, ss2164894675, ss3645059771, ss3687336880, ss3725047203, ss3770827301, ss3799557122, ss3945063751, ss4460113679, ss6351998976, ss6404017275, ss6407778568, ss6494899143, ss8236871138, ss8237632433, ss8243268487, ss8314396336, ss8444225829, ss8516079296, ss8670383989, ss8800847089, ss8849027752, ss8909410649, ss8982017092, ss8982072041, ss8989718287 NC_000001.11:97305363:C:T NC_000001.11:97305363:C:T (self)
ss86237232, ss86342029, ss159698104 NT_032977.9:67742837:C:T NC_000001.11:97305363: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.

26 citations for rs1801160
PMID Title Author Year Journal
8698850 Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. Wei X et al. 1996 The Journal of clinical investigation
9723824 Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects. Ridge SA et al. 1998 British journal of clinical pharmacology
15132136 Dihydropyrimidine dehydrogenase pharmacogenetics in the Taiwanese population. Hsiao HH et al. 2004 Cancer chemotherapy and pharmacology
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
18452418 Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in Chinese cancer patients. He YF et al. 2008 Journal of clinical pharmacy and therapeutics
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
21362212 [Detection of single nucleotide polymorphisms of mthfr and dpyd genes in leukemia cell lines K562 and K562/A02]. Zhang WJ et al. 2011 Zhongguo shi yan xue ye xue za zhi
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
23988873 Clinical Pharmacogenetics Implementation Consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing. Caudle KE et al. 2013 Clinical pharmacology and therapeutics
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
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
28745575 Use of exome sequencing to determine the full profile of genetic variants in the fluoropyrimidine pathway in colorectal cancer patients affected by severe toxicity. Pellicer M et al. 2017 Pharmacogenomics
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
30545124 Use of Germline Genetic Variability for Prediction of Chemoresistance and Prognosis of Breast Cancer Patients. Hlavac V et al. 2018 Cancers
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
33519226 Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon. Fernandes MR et al. 2021 Pharmacogenomics and personalized medicine
33941060 DPYD variant testing in candidates for fluoropyrimidine treatment: A study protocol. Hernández-Guío A et al. 2021 Farmacia hospitalaria
34429635 Population Genetic Difference of Pharmacogenomic VIP Variants in the Tibetan Population. He C et al. 2021 Pharmacogenomics and personalized medicine
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
35207713 Elevated Risk of Fluoropyrimidine-Associated Toxicity in European Patients with DPYD Genetic Polymorphism: A Systematic Review and Meta-Analysis. Kim W et al. 2022 Journal of personalized medicine
35582139 The use of pharmacogenetics to increase the safety of colorectal cancer patients treated with fluoropyrimidines. De Mattia E et al. 2019 Cancer drug resistance (Alhambra, Calif.)
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