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dbSNP Short Genetic Variations

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.

rs45445694

Current Build 157

Released September 3, 2024

Organism
Homo sapiens
Position
chr18:657646-657712 (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
del(GGCCTGCCTCCGTCCCGCCGCGCCACTT)2

del(GGCCTGCCTCCGTCCCGCCGCGCCACTT)2 / delGGCCTGCCTCCGTCCCGCCGCGCCACTT / dupGGCCTGCCTCCGTCCCGCCGCGCCACTT / dup(GGCCTGCCTCCGTCCCGCCGCGCCACTT)2 / ins(GGCCTGCCTCCGTCCCGCCGCGCCACTT)5 / ins(GGCCTGCCTCCGTCCCGCCGCGCCACTT)6 / ins(GGCCTGCCTCCGTCCCGCCGCGCCACTT)7

Variation Type
Indel Insertion and Deletion
Frequency
delGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.2492 (2367/9498, ALFA)
delGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.1563 (1121/7172, Korea4K)
delGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.1631 (289/1772, Korea1K) (+ 1 more)
delGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.402 (241/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TYMSOS : Intron Variant
TYMS : 5 Prime UTR Variant
Publications
13 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 9498 CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.7507 CCGCGCCACTT=0.0000, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.2492, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.0001 0.613521 0.111837 0.274642 32
European Sub 7422 CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.7092 CCGCGCCACTT=0.0000, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.2906, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.0001 0.551482 0.132615 0.315903 32
African Sub 1474 CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.8630 CCGCGCCACTT=0.0000, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.1370, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.0000 0.776119 0.050204 0.173677 28
African Others Sub 54 CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.80 CCGCGCCACTT=0.00, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.20, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.00 0.740741 0.148148 0.111111 7
African American Sub 1420 CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.8655 CCGCGCCACTT=0.0000, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.1345, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.0000 0.777465 0.046479 0.176056 23
Asian Sub 78 CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=1.00 CCGCGCCACTT=0.00, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.00, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.00 1.0 0.0 0.0 N/A
East Asian Sub 60 CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=1.00 CCGCGCCACTT=0.00, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.00, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 18 CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=1.00 CCGCGCCACTT=0.00, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.00, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 54 CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=1.00 CCGCGCCACTT=0.00, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.00, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 240 CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=1.000 CCGCGCCACTT=0.000, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.000, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 36 CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=1.00 CCGCGCCACTT=0.00, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.00, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.00 1.0 0.0 0.0 N/A
Other Sub 194 CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.959 CCGCGCCACTT=0.000, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.041, CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.000 0.938144 0.020619 0.041237 12


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
Allele Frequency Aggregator Total Global 9498 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2CCGCGCCACTT=0.7507 del(GGCCTGCCTCCGTCCCGCCGCGCCACTT)2=0.0000, delGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.2492, dupGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.0001
Allele Frequency Aggregator European Sub 7422 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2CCGCGCCACTT=0.7092 del(GGCCTGCCTCCGTCCCGCCGCGCCACTT)2=0.0000, delGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.2906, dupGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.0001
Allele Frequency Aggregator African Sub 1474 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2CCGCGCCACTT=0.8630 del(GGCCTGCCTCCGTCCCGCCGCGCCACTT)2=0.0000, delGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.1370, dupGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.0000
Allele Frequency Aggregator Latin American 2 Sub 240 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2CCGCGCCACTT=1.000 del(GGCCTGCCTCCGTCCCGCCGCGCCACTT)2=0.000, delGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.000, dupGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.000
Allele Frequency Aggregator Other Sub 194 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2CCGCGCCACTT=0.959 del(GGCCTGCCTCCGTCCCGCCGCGCCACTT)2=0.000, delGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.041, dupGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.000
Allele Frequency Aggregator Asian Sub 78 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2CCGCGCCACTT=1.00 del(GGCCTGCCTCCGTCCCGCCGCGCCACTT)2=0.00, delGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.00, dupGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.00
Allele Frequency Aggregator Latin American 1 Sub 54 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2CCGCGCCACTT=1.00 del(GGCCTGCCTCCGTCCCGCCGCGCCACTT)2=0.00, delGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.00, dupGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.00
Allele Frequency Aggregator South Asian Sub 36 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2CCGCGCCACTT=1.00 del(GGCCTGCCTCCGTCCCGCCGCGCCACTT)2=0.00, delGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.00, dupGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.00
Korean Genome Project 4K KOREAN Study-wide 7172 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2CCGCGCCACTT=0.8437 delGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.1563
Korean Genome Project KOREAN Study-wide 1772 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2CCGCGCCACTT=0.8369 delGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.1631
Northern Sweden ACPOP Study-wide 600 (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2CCGCGCCACTT=0.598 delGGCCTGCCTCCGTCCCGCCGCGCCACTT=0.402
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 18 NC_000018.10:g.657657_657712del
GRCh38.p14 chr 18 NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[1]
GRCh38.p14 chr 18 NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[3]
GRCh38.p14 chr 18 NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[4]
GRCh38.p14 chr 18 NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[7]
GRCh38.p14 chr 18 NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[8]
GRCh38.p14 chr 18 NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[9]
GRCh37.p13 chr 18 NC_000018.9:g.657657_657712del
GRCh37.p13 chr 18 NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[1]
GRCh37.p13 chr 18 NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[3]
GRCh37.p13 chr 18 NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[4]
GRCh37.p13 chr 18 NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[7]
GRCh37.p13 chr 18 NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[8]
GRCh37.p13 chr 18 NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[9]
TYMS RefSeqGene (LRG_783) NG_028255.1:g.5054_5109del
TYMS RefSeqGene (LRG_783) NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[1]
TYMS RefSeqGene (LRG_783) NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[3]
TYMS RefSeqGene (LRG_783) NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[4]
TYMS RefSeqGene (LRG_783) NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[7]
TYMS RefSeqGene (LRG_783) NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[8]
TYMS RefSeqGene (LRG_783) NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[9]
LOC127888625 genomic region NG_138210.1:g.381_436del
LOC127888625 genomic region NG_138210.1:g.381GGCCTGCCTCCGTCCCGCCGCGCCACTT[1]
LOC127888625 genomic region NG_138210.1:g.381GGCCTGCCTCCGTCCCGCCGCGCCACTT[3]
LOC127888625 genomic region NG_138210.1:g.381GGCCTGCCTCCGTCCCGCCGCGCCACTT[4]
LOC127888625 genomic region NG_138210.1:g.381GGCCTGCCTCCGTCCCGCCGCGCCACTT[7]
LOC127888625 genomic region NG_138210.1:g.381GGCCTGCCTCCGTCCCGCCGCGCCACTT[8]
LOC127888625 genomic region NG_138210.1:g.381GGCCTGCCTCCGTCCCGCCGCGCCACTT[9]
Gene: TYMS, thymidylate synthetase (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
TYMS transcript variant 1 NM_001071.4:c. N/A 5 Prime UTR Variant
TYMS transcript variant 2 NM_001354867.2:c. N/A 5 Prime UTR Variant
TYMS transcript variant 3 NM_001354868.2:c. N/A 5 Prime UTR Variant
TYMS transcript variant X1 XM_024451242.2:c. N/A Genic Upstream Transcript Variant
Gene: TYMSOS, TYMS opposite strand RNA (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TYMSOS transcript NR_171001.1: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: (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2CCGCGCCACTT= (allele ID: 167453 )
ClinVar Accession Disease Names Clinical Significance
RCV000144919.2 Gastrointestinal stromal tumor Uncertain-Significance
Allele: dupGGCCTGCCTCCGTCCCGCCGCGCCACTT (allele ID: 167453 )
ClinVar Accession Disease Names Clinical Significance
RCV000144919.2 Gastrointestinal stromal tumor Uncertain-Significance
Allele: dup(GGCCTGCCTCCGTCCCGCCGCGCCACTT)2 (allele ID: 167453 )
ClinVar Accession Disease Names Clinical Significance
RCV000144919.2 Gastrointestinal stromal tumor Uncertain-Significance
Allele: ins(GGCCTGCCTCCGTCCCGCCGCGCCACTT)5 (allele ID: 167453 )
ClinVar Accession Disease Names Clinical Significance
RCV000144919.2 Gastrointestinal stromal tumor Uncertain-Significance
Allele: ins(GGCCTGCCTCCGTCCCGCCGCGCCACTT)6 (allele ID: 167453 )
ClinVar Accession Disease Names Clinical Significance
RCV000144919.2 Gastrointestinal stromal tumor Uncertain-Significance
Allele: ins(GGCCTGCCTCCGTCCCGCCGCGCCACTT)7 (allele ID: 167453 )
ClinVar Accession Disease Names Clinical Significance
RCV000144919.2 Gastrointestinal stromal tumor Uncertain-Significance
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2CCGCGCCACTT= del(GGCCTGCCTCCGTCCCGCCGCGCCACTT)2 delGGCCTGCCTCCGTCCCGCCGCGCCACTT dupGGCCTGCCTCCGTCCCGCCGCGCCACTT dup(GGCCTGCCTCCGTCCCGCCGCGCCACTT)2 ins(GGCCTGCCTCCGTCCCGCCGCGCCACTT)5 ins(GGCCTGCCTCCGTCCCGCCGCGCCACTT)6 ins(GGCCTGCCTCCGTCCCGCCGCGCCACTT)7
GRCh38.p14 chr 18 NC_000018.10:g.657646_657712= NC_000018.10:g.657657_657712del NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[1] NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[3] NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[4] NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[7] NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[8] NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[9]
GRCh37.p13 chr 18 NC_000018.9:g.657646_657712= NC_000018.9:g.657657_657712del NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[1] NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[3] NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[4] NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[7] NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[8] NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[9]
TYMS RefSeqGene (LRG_783) NG_028255.1:g.5043_5109= NG_028255.1:g.5054_5109del NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[1] NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[3] NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[4] NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[7] NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[8] NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[9]
LOC127888625 genomic region NG_138210.1:g.370_436= NG_138210.1:g.381_436del NG_138210.1:g.381GGCCTGCCTCCGTCCCGCCGCGCCACTT[1] NG_138210.1:g.381GGCCTGCCTCCGTCCCGCCGCGCCACTT[3] NG_138210.1:g.381GGCCTGCCTCCGTCCCGCCGCGCCACTT[4] NG_138210.1:g.381GGCCTGCCTCCGTCCCGCCGCGCCACTT[7] NG_138210.1:g.381GGCCTGCCTCCGTCCCGCCGCGCCACTT[8] NG_138210.1:g.381GGCCTGCCTCCGTCCCGCCGCGCCACTT[9]
TYMSOS transcript NM_001012716.2:c.*34+196= NM_001012716.2:c.*34+141_*34+196del NM_001012716.2:c.*34+169_*34+196del NM_001012716.2:c.*34+141CGGGACGGAGGCAGGCCAAGTGGCGCGG[3] NM_001012716.2:c.*34+141CGGGACGGAGGCAGGCCAAGTGGCGCGG[4] NM_001012716.2:c.*34+141CGGGACGGAGGCAGGCCAAGTGGCGCGG[7] NM_001012716.2:c.*34+141CGGGACGGAGGCAGGCCAAGTGGCGCGG[8] NM_001012716.2:c.*34+141CGGGACGGAGGCAGGCCAAGTGGCGCGG[9]
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#.

36 SubSNP, 15 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 PHARMGKB_PAAR-SJCRH ss69370536 May 16, 2007 (127)
2 EVA_GENOME_DK ss1575102176 Apr 01, 2015 (144)
3 EVA_GENOME_DK ss1577271383 Apr 01, 2015 (144)
4 JJLAB ss2031354269 Sep 14, 2016 (149)
5 MCHAISSO ss3063880733 Nov 08, 2017 (151)
6 MCHAISSO ss3064725065 Nov 08, 2017 (151)
7 MCHAISSO ss3065667464 Nov 08, 2017 (151)
8 ACPOP ss3742283310 Jul 13, 2019 (153)
9 PACBIO ss3788288734 Jul 13, 2019 (153)
10 PACBIO ss3793231762 Jul 13, 2019 (153)
11 PACBIO ss3798117955 Jul 13, 2019 (153)
12 EVA ss3835017229 Apr 27, 2020 (154)
13 KOGIC ss3979460054 Apr 27, 2020 (154)
14 TOMMO_GENOMICS ss6173463638 Oct 31, 2024 (157)
15 TOMMO_GENOMICS ss6173463639 Oct 31, 2024 (157)
16 EVA ss6322598534 Oct 31, 2024 (157)
17 EVA ss6328053222 Oct 31, 2024 (157)
18 YEGNASUBRAMANIAN_LAB ss6347303173 Oct 31, 2024 (157)
19 EVA ss6350099297 Oct 31, 2024 (157)
20 KOGIC ss6396368122 Oct 31, 2024 (157)
21 EVA ss6404510587 Oct 31, 2024 (157)
22 GNOMAD ss6462578508 Oct 31, 2024 (157)
23 GNOMAD ss6462578510 Oct 31, 2024 (157)
24 TOMMO_GENOMICS ss8223834611 Oct 31, 2024 (157)
25 TOMMO_GENOMICS ss8223834612 Oct 31, 2024 (157)
26 1000G_HIGH_COVERAGE ss8304204914 Oct 31, 2024 (157)
27 1000G_HIGH_COVERAGE ss8304204915 Oct 31, 2024 (157)
28 HUGCELL_USP ss8497136234 Oct 31, 2024 (157)
29 HUGCELL_USP ss8497136235 Oct 31, 2024 (157)
30 EVA ss8623973554 Oct 31, 2024 (157)
31 TOMMO_GENOMICS ss8780509887 Oct 31, 2024 (157)
32 TOMMO_GENOMICS ss8780509888 Oct 31, 2024 (157)
33 EVA ss8800213373 Oct 31, 2024 (157)
34 YY_MCH ss8816799444 Oct 31, 2024 (157)
35 GNOMAD ss10025559599 Oct 31, 2024 (157)
36 GNOMAD ss10025559602 Oct 31, 2024 (157)
37 The Danish reference pan genome

Submission ignored due to conflicting rows:
Row 46071 (NC_000018.9:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCG: 22/40)
Row 580279 (NC_000018.9:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCG: 23/40)

- Apr 27, 2020 (154)
38 The Danish reference pan genome

Submission ignored due to conflicting rows:
Row 46071 (NC_000018.9:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCG: 22/40)
Row 580279 (NC_000018.9:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCG: 23/40)

- Apr 27, 2020 (154)
39 gnomAD v4 - Exomes

Submission ignored due to conflicting rows:
Row 57918704 (NC_000018.10:657645::CCGCGCCACTTGGCCTGCCTCCGTCCCG 354/818978)
Row 57918706 (NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCG: 230801/813718)
Row 57918707 (NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG: 70/819004)

- Oct 31, 2024 (157)
40 gnomAD v4 - Exomes

Submission ignored due to conflicting rows:
Row 57918704 (NC_000018.10:657645::CCGCGCCACTTGGCCTGCCTCCGTCCCG 354/818978)
Row 57918706 (NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCG: 230801/813718)
Row 57918707 (NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG: 70/819004)

- Oct 31, 2024 (157)
41 gnomAD v4 - Exomes

Submission ignored due to conflicting rows:
Row 57918704 (NC_000018.10:657645::CCGCGCCACTTGGCCTGCCTCCGTCCCG 354/818978)
Row 57918706 (NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCG: 230801/813718)
Row 57918707 (NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG: 70/819004)

- Oct 31, 2024 (157)
42 gnomAD v4 - Genomes

Submission ignored due to conflicting rows:
Row 553102517 (NC_000018.10:657645::CCGCGCCACTTGGCCTGCCTCCGTCCCG 1139/145354)
Row 553102519 (NC_000018.10:657645::CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG 2/145314)
Row 553102523 (NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCG: 60126/145126)...

- Oct 31, 2024 (157)
43 gnomAD v4 - Genomes

Submission ignored due to conflicting rows:
Row 553102517 (NC_000018.10:657645::CCGCGCCACTTGGCCTGCCTCCGTCCCG 1139/145354)
Row 553102519 (NC_000018.10:657645::CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG 2/145314)
Row 553102523 (NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCG: 60126/145126)...

- Oct 31, 2024 (157)
44 gnomAD v4 - Genomes

Submission ignored due to conflicting rows:
Row 553102517 (NC_000018.10:657645::CCGCGCCACTTGGCCTGCCTCCGTCCCG 1139/145354)
Row 553102519 (NC_000018.10:657645::CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG 2/145314)
Row 553102523 (NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCG: 60126/145126)...

- Oct 31, 2024 (157)
45 gnomAD v4 - Genomes

Submission ignored due to conflicting rows:
Row 553102517 (NC_000018.10:657645::CCGCGCCACTTGGCCTGCCTCCGTCCCG 1139/145354)
Row 553102519 (NC_000018.10:657645::CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG 2/145314)
Row 553102523 (NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCG: 60126/145126)...

- Oct 31, 2024 (157)
46 Korean Genome Project NC_000018.10 - 657646 Apr 27, 2020 (154)
47 Korean Genome Project 4K NC_000018.10 - 657646 Oct 31, 2024 (157)
48 Northern Sweden NC_000018.9 - 657646 Jul 13, 2019 (153)
49 38KJPN

Submission ignored due to conflicting rows:
Row 190839458 (NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCG: 10712/77440)
Row 190839459 (NC_000018.10:657645::CCGCGCCACTTGGCCTGCCTCCGTCCCG 71/77440)

- Oct 31, 2024 (157)
50 38KJPN

Submission ignored due to conflicting rows:
Row 190839458 (NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCG: 10712/77440)
Row 190839459 (NC_000018.10:657645::CCGCGCCACTTGGCCTGCCTCCGTCCCG 71/77440)

- Oct 31, 2024 (157)
51 ALFA NC_000018.10 - 657646 Oct 31, 2024 (157)
52 ClinVar RCV000144919.2 Oct 31, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG:

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTT

(self)
1940281645 NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTT

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTT

(self)
15568175, ss1575102176, ss1577271383, ss2031354269, ss3742283310, ss3788288734, ss3793231762, ss3798117955, ss3835017229, ss6322598534, ss6328053222, ss6347303173, ss6350099297, ss6404510587, ss8223834611, ss8623973554, ss8800213373 NC_000018.9:657645:CCGCGCCACTTGGCC…

NC_000018.9:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCG:

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

(self)
35838055, 46220020, ss3063880733, ss3064725065, ss3065667464, ss3979460054, ss6173463638, ss6396368122, ss6462578510, ss8304204914, ss8497136234, ss8780509887, ss8816799444, ss10025559602 NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCG:

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

(self)
1940281645 NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

(self)
ss8223834612 NC_000018.9:657645::CCGCGCCACTTGGC…

NC_000018.9:657645::CCGCGCCACTTGGCCTGCCTCCGTCCCG

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

(self)
ss6173463639, ss6462578508, ss8304204915, ss8497136235, ss8780509888, ss10025559599 NC_000018.10:657645::CCGCGCCACTTGG…

NC_000018.10:657645::CCGCGCCACTTGGCCTGCCTCCGTCCCG

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

(self)
1940281645 NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

(self)
RCV000144919.2 NC_000018.10:657701::CCGCGCCACTTGG…

NC_000018.10:657701::CCGCGCCACTTGGCCTGCCTCCGTCCCG

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

(self)
ss69370536 NT_010859.14:647645:CCGCGCCACTTGGC…

NT_010859.14:647645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

(self)
NC_000018.10:657645::CCGCGCCACTTGG…

NC_000018.10:657645::CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

(self)
RCV000144919.2 NC_000018.10:657701::CCGCGCCACTTGG…

NC_000018.10:657701::CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

(self)
ss69370536 NT_010859.14:647645:CCGCGCCACTTGGC…

NT_010859.14:647645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

(self)
RCV000144919.2 NC_000018.10:657701::CCGCGCCACTTGG…

NC_000018.10:657701::CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

(self)
ss69370536 NT_010859.14:647645:CCGCGCCACTTGGC…

NT_010859.14:647645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

(self)
RCV000144919.2 NC_000018.10:657701::CCGCGCCACTTGG…

NC_000018.10:657701::CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

(self)
ss69370536 NT_010859.14:647645:CCGCGCCACTTGGC…

NT_010859.14:647645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

(self)
RCV000144919.2 NC_000018.10:657701::CCGCGCCACTTGG…

NC_000018.10:657701::CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

(self)
ss69370536 NT_010859.14:647645:CCGCGCCACTTGGC…

NT_010859.14:647645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCG

NC_000018.10:657645:CCGCGCCACTTGGC…

NC_000018.10:657645:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT:CCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTT

(self)
Help

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

13 citations for rs45445694
PMID Title Author Year Journal
20177420 Prediction of irinotecan and 5-fluorouracil toxicity and response in patients with advanced colorectal cancer. Glimelius B et al. 2011 The pharmacogenomics journal
22388795 Functional polymorphisms of folate metabolism and response to chemotherapy for colorectal cancer, a systematic review and meta-analysis. Jennings BA et al. 2012 Pharmacogenetics and genomics
25110414 Pharmacogenetics research on chemotherapy resistance in colorectal cancer over the last 20 years. Panczyk M et al. 2014 World journal of gastroenterology
25132748 FOLFOX/FOLFIRI pharmacogenetics: the call for a personalized approach in colorectal cancer therapy. Mohelnikova-Duchonova B et al. 2014 World journal of gastroenterology
25691056 Variants in CDA and ABCB1 are predictors of capecitabine-related adverse reactions in colorectal cancer. García-González X et al. 2015 Oncotarget
26166093 Delimiting Allelic Imbalance of TYMS by Allele-Specific Analysis. Balboa-Beltrán E et al. 2015 Medicine
27774364 Pancytopenia and Severe Gastrointestinal Toxicities Associated with 5-Fluorouracil in a Patient with Thymidylate Synthase (TYMS) Polymorphism. Wang B et al. 2016 Cureus
29257755 Thymidylate synthase gene variants as predictors of clinical response and toxicity to fluoropyrimidine-based chemotherapy for colorectal cancer. Castro-Rojas CA et al. 2017 Drug metabolism and personalized therapy
31838077 Evaluating the role of ENOSF1 and TYMS variants as predictors in fluoropyrimidine-related toxicities: An IPD meta-analysis. Hamzic S et al. 2020 Pharmacological research
33195260 Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors. Martinelli M et al. 2020 Frontiers in cell and developmental biology
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.)
35685475 Mutational landscape of gastric adenocarcinoma in Latin America: A genetic approach for precision medicine. Cerrato-Izaguirre D et al. 2022 Genes & diseases
37256234 Pharmacogenomic-guided dosing of fluoropyrimidines beyond DPYD: time for a polygenic algorithm? Maslarinou A et al. 2023 Frontiers in pharmacology
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
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