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.
rs11280056
Current Build 157
Released September 3, 2024
- Organism
- Homo sapiens
- Position
-
chr18:673444-673452 (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
- delAAGTTA / dupAAGTTA
- Variation Type
- Indel Insertion and Deletion
- Frequency
-
delAAGTTA=0.405769 (107403/264690, TOPMED)delAAGTTA=0.396009 (58805/148494, GnomAD_genomes)TTAAAGTTA=0.36228 (28052/77432, 38KJPN) (+ 13 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
ENOSF1 : Intron VariantTYMS : 3 Prime UTR 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.
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 18520 | TTAAAGTTA=0.65373 | TTA=0.34627 | 0.433261 | 0.12581 | 0.440929 | 4 |
| European | Sub | 14152 | TTAAAGTTA=0.69743 | TTA=0.30257 | 0.483889 | 0.089033 | 0.427077 | 1 |
| African | Sub | 2898 | TTAAAGTTA=0.4634 | TTA=0.5366 | 0.220842 | 0.293996 | 0.485162 | 1 |
| African Others | Sub | 114 | TTAAAGTTA=0.474 | TTA=0.526 | 0.210526 | 0.263158 | 0.526316 | 0 |
| African American | Sub | 2784 | TTAAAGTTA=0.4630 | TTA=0.5370 | 0.221264 | 0.295259 | 0.483477 | 1 |
| Asian | Sub | 112 | TTAAAGTTA=0.268 | TTA=0.732 | 0.142857 | 0.607143 | 0.25 | 5 |
| East Asian | Sub | 86 | TTAAAGTTA=0.30 | TTA=0.70 | 0.162791 | 0.55814 | 0.27907 | 3 |
| Other Asian | Sub | 26 | TTAAAGTTA=0.15 | TTA=0.85 | 0.076923 | 0.769231 | 0.153846 | 1 |
| Latin American 1 | Sub | 146 | TTAAAGTTA=0.678 | TTA=0.322 | 0.465753 | 0.109589 | 0.424658 | 0 |
| Latin American 2 | Sub | 610 | TTAAAGTTA=0.670 | TTA=0.330 | 0.406557 | 0.065574 | 0.527869 | 7 |
| South Asian | Sub | 98 | TTAAAGTTA=0.59 | TTA=0.41 | 0.346939 | 0.163265 | 0.489796 | 0 |
| Other | Sub | 504 | TTAAAGTTA=0.591 | TTA=0.409 | 0.337302 | 0.154762 | 0.507937 | 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").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | TTAAAGTTA=0.594231 | delAAGTTA=0.405769 |
| gnomAD v4 - Genomes | Global | Study-wide | 148494 | TTAAAGTTA=0.603991 | delAAGTTA=0.396009 |
| gnomAD v4 - Genomes | European | Sub | 78330 | TTAAAGTTA=0.69313 | delAAGTTA=0.30687 |
| gnomAD v4 - Genomes | African | Sub | 41276 | TTAAAGTTA=0.45307 | delAAGTTA=0.54693 |
| gnomAD v4 - Genomes | American | Sub | 15236 | TTAAAGTTA=0.66678 | delAAGTTA=0.33322 |
| gnomAD v4 - Genomes | East Asian | Sub | 5090 | TTAAAGTTA=0.3200 | delAAGTTA=0.6800 |
| gnomAD v4 - Genomes | South Asian | Sub | 4804 | TTAAAGTTA=0.5547 | delAAGTTA=0.4453 |
| gnomAD v4 - Genomes | Ashkenazi Jewish | Sub | 3466 | TTAAAGTTA=0.6021 | delAAGTTA=0.3979 |
| gnomAD v4 - Genomes | Middle Eastern | sub | 292 | TTAAAGTTA=0.531 | delAAGTTA=0.469 |
| 38KJPN | JAPANESE | Study-wide | 77432 | TTAAAGTTA=0.36228 | delAAGTTA=0.63772 |
| gnomAD v4 - Exomes | Global | Study-wide | 60462 | TTAAAGTTA=0.64035 | delAAGTTA=0.35965 |
| gnomAD v4 - Exomes | European | Sub | 41072 | TTAAAGTTA=0.71014 | delAAGTTA=0.28986 |
| gnomAD v4 - Exomes | East Asian | Sub | 9064 | TTAAAGTTA=0.3673 | delAAGTTA=0.6327 |
| gnomAD v4 - Exomes | Ashkenazi Jewish | Sub | 4106 | TTAAAGTTA=0.6388 | delAAGTTA=0.3612 |
| gnomAD v4 - Exomes | African | Sub | 2874 | TTAAAGTTA=0.4753 | delAAGTTA=0.5247 |
| gnomAD v4 - Exomes | American | Sub | 2322 | TTAAAGTTA=0.7106 | delAAGTTA=0.2894 |
| gnomAD v4 - Exomes | South Asian | Sub | 640 | TTAAAGTTA=0.584 | delAAGTTA=0.416 |
| gnomAD v4 - Exomes | Middle Eastern | sub | 384 | TTAAAGTTA=0.542 | delAAGTTA=0.458 |
| Allele Frequency Aggregator | Total | Global | 18520 | TTAAAGTTA=0.65373 | delAAGTTA=0.34627 |
| Allele Frequency Aggregator | European | Sub | 14152 | TTAAAGTTA=0.69743 | delAAGTTA=0.30257 |
| Allele Frequency Aggregator | African | Sub | 2898 | TTAAAGTTA=0.4634 | delAAGTTA=0.5366 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | TTAAAGTTA=0.670 | delAAGTTA=0.330 |
| Allele Frequency Aggregator | Other | Sub | 504 | TTAAAGTTA=0.591 | delAAGTTA=0.409 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | TTAAAGTTA=0.678 | delAAGTTA=0.322 |
| Allele Frequency Aggregator | Asian | Sub | 112 | TTAAAGTTA=0.268 | delAAGTTA=0.732 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | TTAAAGTTA=0.59 | delAAGTTA=0.41 |
| Korean Genome Project 4K | KOREAN | Study-wide | 7230 | TTAAAGTTA=0.3000 | delAAGTTA=0.7000 |
| 1000Genomes_30X | Global | Study-wide | 6404 | TTAAAGTTA=0.5077 | delAAGTTA=0.4923 |
| 1000Genomes_30X | African | Sub | 1786 | TTAAAGTTA=0.4311 | delAAGTTA=0.5689 |
| 1000Genomes_30X | Europe | Sub | 1266 | TTAAAGTTA=0.6682 | delAAGTTA=0.3318 |
| 1000Genomes_30X | South Asian | Sub | 1202 | TTAAAGTTA=0.5300 | delAAGTTA=0.4700 |
| 1000Genomes_30X | East Asian | Sub | 1170 | TTAAAGTTA=0.2991 | delAAGTTA=0.7009 |
| 1000Genomes_30X | American | Sub | 980 | TTAAAGTTA=0.661 | delAAGTTA=0.339 |
| 1000Genomes | Global | Study-wide | 5008 | TTAAAGTTA=0.5080 | delAAGTTA=0.4920 |
| 1000Genomes | African | Sub | 1322 | TTAAAGTTA=0.4327 | delAAGTTA=0.5673 |
| 1000Genomes | East Asian | Sub | 1008 | TTAAAGTTA=0.3056 | delAAGTTA=0.6944 |
| 1000Genomes | Europe | Sub | 1006 | TTAAAGTTA=0.6710 | delAAGTTA=0.3290 |
| 1000Genomes | South Asian | Sub | 978 | TTAAAGTTA=0.529 | delAAGTTA=0.471 |
| 1000Genomes | American | Sub | 694 | TTAAAGTTA=0.680 | delAAGTTA=0.320 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | TTAAAGTTA=0.7201 | delAAGTTA=0.2799 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | TTAAAGTTA=0.6982 | delAAGTTA=0.3018 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | TTAAAGTTA=0.6974 | delAAGTTA=0.3026 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | TTAAAGTTA=0.3128 | delAAGTTA=0.6872 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | TTAAAGTTA=0.669 | delAAGTTA=0.331 |
| Northern Sweden | ACPOP | Study-wide | 600 | TTAAAGTTA=0.662 | delAAGTTA=0.338 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 212 | TTAAAGTTA=0.368 | delAAGTTA=0.632 |
| The Danish reference pan genome | Danish | Study-wide | 40 | TTAAAGTTA=0.82 | delAAGTTA=0.17 |
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.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 18 | NC_000018.10:g.673447_673452del |
| GRCh38.p14 chr 18 | NC_000018.10:g.673447_673452dup |
| GRCh37.p13 chr 18 | NC_000018.9:g.673447_673452del |
| GRCh37.p13 chr 18 | NC_000018.9:g.673447_673452dup |
| TYMS RefSeqGene (LRG_783) | NG_028255.1:g.20844_20849del |
| TYMS RefSeqGene (LRG_783) | NG_028255.1:g.20844_20849dup |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ENOSF1 transcript variant 1 | NM_017512.7:c.*853_*861= | N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant 9 |
NM_001354065.2:c.*853_*86… NM_001354065.2:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant 12 |
NM_001354067.2:c.*853_*86… NM_001354067.2:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant 3 | NM_202758.5:c.*853_*861= | N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant 11 |
NM_001354066.2:c.*853_*86… NM_001354066.2:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant 5 |
NM_001318760.2:c.*853_*86… NM_001318760.2:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant 13 |
NM_001354068.2:c.*853_*86… NM_001354068.2:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant 2 | NR_148706.2:n. | N/A | Intron Variant |
| ENOSF1 transcript variant 4 | NR_148707.2:n. | N/A | Intron Variant |
| ENOSF1 transcript variant 6 | NR_148708.2:n. | N/A | Intron Variant |
| ENOSF1 transcript variant 7 | NR_148709.2:n. | N/A | Intron Variant |
| ENOSF1 transcript variant 8 | NR_148710.2:n. | N/A | Intron Variant |
| ENOSF1 transcript variant 10 | NR_148711.2:n. | N/A | Intron Variant |
| ENOSF1 transcript variant 14 | NR_148712.2:n. | N/A | Intron Variant |
| ENOSF1 transcript variant X5 |
XM_024451201.2:c.*853_*86… XM_024451201.2:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant X7 |
XM_024451202.2:c.*853_*86… XM_024451202.2:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant X9 |
XM_024451203.2:c.*853_*86… XM_024451203.2:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant X10 |
XM_047437612.1:c.*853_*86… XM_047437612.1:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant X13 |
XM_047437613.1:c.*853_*86… XM_047437613.1:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant X15 |
XM_024451204.2:c.*853_*86… XM_024451204.2:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant X16 |
XM_047437614.1:c.*853_*86… XM_047437614.1:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant X18 |
XM_024451208.2:c.*853_*86… XM_024451208.2:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant X20 |
XM_024451209.2:c.*853_*86… XM_024451209.2:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant X22 |
XM_024451210.2:c.*853_*86… XM_024451210.2:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant X25 |
XM_047437617.1:c.*853_*86… XM_047437617.1:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant X26 |
XM_047437618.1:c.*853_*86… XM_047437618.1:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant X28 |
XM_047437620.1:c.*853_*86… XM_047437620.1:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant X30 |
XM_047437621.1:c.*853_*86… XM_047437621.1:c.*853_*861= |
N/A | 3 Prime UTR Variant |
| ENOSF1 transcript variant X1 | XM_047437611.1:c. | N/A | Genic Upstream Transcript Variant |
| ENOSF1 transcript variant X23 | XM_047437615.1:c. | N/A | Genic Downstream Transcript Variant |
| ENOSF1 transcript variant X24 | XM_047437616.1:c. | N/A | Genic Downstream Transcript Variant |
| ENOSF1 transcript variant X27 | XM_047437619.1:c. | N/A | Genic Downstream Transcript Variant |
| ENOSF1 transcript variant X33 | XM_047437622.1:c. | N/A | Genic Downstream Transcript Variant |
| ENOSF1 transcript variant X2 | XR_007066181.1:n. | N/A | Intron Variant |
| ENOSF1 transcript variant X4 | XR_007066182.1:n. | N/A | Intron Variant |
| ENOSF1 transcript variant X6 | XR_007066183.1:n. | N/A | Intron Variant |
| ENOSF1 transcript variant X8 | XR_007066184.1:n. | N/A | Intron Variant |
| ENOSF1 transcript variant X11 | XR_007066185.1:n. | N/A | Intron Variant |
| ENOSF1 transcript variant X12 | XR_007066186.1:n. | N/A | Intron Variant |
| ENOSF1 transcript variant X14 | XR_007066187.1:n. | N/A | Intron Variant |
| ENOSF1 transcript variant X17 | XR_007066188.1:n. | N/A | Intron Variant |
| ENOSF1 transcript variant X19 | XR_007066189.1:n. | N/A | Intron Variant |
| ENOSF1 transcript variant X21 | XR_007066190.1:n. | N/A | Intron Variant |
| ENOSF1 transcript variant X29 | XR_007066191.1:n. | N/A | Intron Variant |
| ENOSF1 transcript variant X31 | XR_007066192.1:n. | N/A | Intron Variant |
| ENOSF1 transcript variant X3 | XR_430041.5:n. | N/A | Intron Variant |
| ENOSF1 transcript variant X32 | XR_007066193.1:n. | N/A | Genic Downstream Transcript Variant |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| TYMS transcript variant 1 | NM_001071.4:c.*447_*455= | N/A | 3 Prime UTR Variant |
| TYMS transcript variant 3 |
NM_001354868.2:c.*447_*45… NM_001354868.2:c.*447_*455= |
N/A | 3 Prime UTR Variant |
| TYMS transcript variant 2 |
NM_001354867.2:c.*447_*45… NM_001354867.2:c.*447_*455= |
N/A | 3 Prime UTR Variant |
| TYMS transcript variant X1 |
XM_024451242.2:c.*447_*45… XM_024451242.2:c.*447_*455= |
N/A | 3 Prime UTR 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.
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 | TTAAAGTTA= | delAAGTTA | dupAAGTTA |
|---|---|---|---|
| GRCh38.p14 chr 18 | NC_000018.10:g.673444_673452= | NC_000018.10:g.673447_673452del | NC_000018.10:g.673447_673452dup |
| GRCh37.p13 chr 18 | NC_000018.9:g.673444_673452= | NC_000018.9:g.673447_673452del | NC_000018.9:g.673447_673452dup |
| TYMS RefSeqGene (LRG_783) | NG_028255.1:g.20841_20849= | NG_028255.1:g.20844_20849del | NG_028255.1:g.20844_20849dup |
| TYMS transcript variant 1 | NM_001071.4:c.*447_*455= | NM_001071.4:c.*450_*455del | NM_001071.4:c.*450_*455dup |
| TYMS transcript variant 1 | NM_001071.3:c.*447_*455= | NM_001071.3:c.*450_*455del | NM_001071.3:c.*450_*455dup |
| TYMS transcript | NM_001071.2:c.*447_*455= | NM_001071.2:c.*450_*455del | NM_001071.2:c.*450_*455dup |
| TYMS transcript variant 2 | NM_001354867.2:c.*447_*455= | NM_001354867.2:c.*450_*455del | NM_001354867.2:c.*450_*455dup |
| TYMS transcript variant 2 | NM_001354867.1:c.*447_*455= | NM_001354867.1:c.*450_*455del | NM_001354867.1:c.*450_*455dup |
| TYMS transcript variant 3 | NM_001354868.2:c.*447_*455= | NM_001354868.2:c.*450_*455del | NM_001354868.2:c.*450_*455dup |
| TYMS transcript variant 3 | NM_001354868.1:c.*447_*455= | NM_001354868.1:c.*450_*455del | NM_001354868.1:c.*450_*455dup |
| ENOSF1 transcript variant 1 | NM_017512.7:c.*853_*861= | NM_017512.7:c.*856_*861del | NM_017512.7:c.*856_*861dup |
| ENOSF1 transcript variant 1 | NM_017512.5:c.*853_*861= | NM_017512.5:c.*856_*861del | NM_017512.5:c.*856_*861dup |
| ENOSF1 transcript variant 3 | NM_202758.5:c.*853_*861= | NM_202758.5:c.*856_*861del | NM_202758.5:c.*856_*861dup |
| ENOSF1 transcript variant 3 | NM_202758.3:c.*853_*861= | NM_202758.3:c.*856_*861del | NM_202758.3:c.*856_*861dup |
| ENOSF1 transcript variant 12 | NM_001354067.2:c.*853_*861= | NM_001354067.2:c.*856_*861del | NM_001354067.2:c.*856_*861dup |
| ENOSF1 transcript variant X7 | XM_024451202.2:c.*853_*861= | XM_024451202.2:c.*856_*861del | XM_024451202.2:c.*856_*861dup |
| ENOSF1 transcript variant X5 | XM_024451201.2:c.*853_*861= | XM_024451201.2:c.*856_*861del | XM_024451201.2:c.*856_*861dup |
| ENOSF1 transcript variant 5 | NM_001318760.2:c.*853_*861= | NM_001318760.2:c.*856_*861del | NM_001318760.2:c.*856_*861dup |
| ENOSF1 transcript variant X9 | XM_024451203.2:c.*853_*861= | XM_024451203.2:c.*856_*861del | XM_024451203.2:c.*856_*861dup |
| ENOSF1 transcript variant 11 | NM_001354066.2:c.*853_*861= | NM_001354066.2:c.*856_*861del | NM_001354066.2:c.*856_*861dup |
| ENOSF1 transcript variant X15 | XM_024451204.2:c.*853_*861= | XM_024451204.2:c.*856_*861del | XM_024451204.2:c.*856_*861dup |
| ENOSF1 transcript variant 13 | NM_001354068.2:c.*853_*861= | NM_001354068.2:c.*856_*861del | NM_001354068.2:c.*856_*861dup |
| ENOSF1 transcript variant X22 | XM_024451210.2:c.*853_*861= | XM_024451210.2:c.*856_*861del | XM_024451210.2:c.*856_*861dup |
| ENOSF1 transcript variant 9 | NM_001354065.2:c.*853_*861= | NM_001354065.2:c.*856_*861del | NM_001354065.2:c.*856_*861dup |
| ENOSF1 transcript variant X18 | XM_024451208.2:c.*853_*861= | XM_024451208.2:c.*856_*861del | XM_024451208.2:c.*856_*861dup |
| ENOSF1 transcript variant X20 | XM_024451209.2:c.*853_*861= | XM_024451209.2:c.*856_*861del | XM_024451209.2:c.*856_*861dup |
| TYMS transcript variant X1 | XM_024451242.2:c.*447_*455= | XM_024451242.2:c.*450_*455del | XM_024451242.2:c.*450_*455dup |
| TYMS transcript variant X1 | XM_024451242.1:c.*447_*455= | XM_024451242.1:c.*450_*455del | XM_024451242.1:c.*450_*455dup |
| ENOSF1 transcript variant X28 | XM_047437620.1:c.*853_*861= | XM_047437620.1:c.*856_*861del | XM_047437620.1:c.*856_*861dup |
| ENOSF1 transcript variant X10 | XM_047437612.1:c.*853_*861= | XM_047437612.1:c.*856_*861del | XM_047437612.1:c.*856_*861dup |
| ENOSF1 transcript variant X13 | XM_047437613.1:c.*853_*861= | XM_047437613.1:c.*856_*861del | XM_047437613.1:c.*856_*861dup |
| ENOSF1 transcript variant X16 | XM_047437614.1:c.*853_*861= | XM_047437614.1:c.*856_*861del | XM_047437614.1:c.*856_*861dup |
| ENOSF1 transcript variant X30 | XM_047437621.1:c.*853_*861= | XM_047437621.1:c.*856_*861del | XM_047437621.1:c.*856_*861dup |
| ENOSF1 transcript variant X25 | XM_047437617.1:c.*853_*861= | XM_047437617.1:c.*856_*861del | XM_047437617.1:c.*856_*861dup |
| ENOSF1 transcript variant X26 | XM_047437618.1:c.*853_*861= | XM_047437618.1:c.*856_*861del | XM_047437618.1:c.*856_*861dup |
| ENOSF1 transcript variant 2 | NM_001126123.3:c.*145-368= | NM_001126123.3:c.*145-373_*145-368del | NM_001126123.3:c.*145-373_*145-368dup |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | MARSHFIELD | ss18855 | Mar 15, 2016 (147) |
| 2 | HGSV | ss80100234 | Dec 14, 2007 (130) |
| 3 | HGSV | ss80877284 | Dec 14, 2007 (130) |
| 4 | BCMHGSC_JDW | ss103602352 | Dec 01, 2009 (131) |
| 5 | GMI | ss288499278 | Mar 15, 2016 (147) |
| 6 | GMI | ss289342503 | May 04, 2012 (137) |
| 7 | PJP | ss294926625 | Aug 21, 2014 (142) |
| 8 | 1000GENOMES | ss327815351 | May 09, 2011 (134) |
| 9 | 1000GENOMES | ss327942722 | May 09, 2011 (134) |
| 10 | 1000GENOMES | ss328233946 | May 09, 2011 (134) |
| 11 | 1000GENOMES | ss499330696 | May 04, 2012 (137) |
| 12 | LUNTER | ss552548570 | Apr 25, 2013 (138) |
| 13 | LUNTER | ss552908812 | Apr 25, 2013 (138) |
| 14 | LUNTER | ss553629390 | Apr 25, 2013 (138) |
| 15 | EVA-GONL | ss993410023 | Aug 21, 2014 (142) |
| 16 | 1000GENOMES | ss1377073731 | Aug 21, 2014 (142) |
| 17 | DDI | ss1536858396 | Apr 01, 2015 (144) |
| 18 | EVA_GENOME_DK | ss1575102268 | Apr 01, 2015 (144) |
| 19 | EVA_UK10K_ALSPAC | ss1708876597 | Apr 01, 2015 (144) |
| 20 | EVA_UK10K_TWINSUK | ss1708876679 | Apr 01, 2015 (144) |
| 21 | HAMMER_LAB | ss1808915444 | Sep 08, 2015 (146) |
| 22 | GENOMED | ss1968449945 | Jul 19, 2016 (147) |
| 23 | JJLAB | ss2031354279 | Sep 14, 2016 (149) |
| 24 | SYSTEMSBIOZJU | ss2629101203 | Nov 08, 2017 (151) |
| 25 | GNOMAD | ss2953290152 | Nov 08, 2017 (151) |
| 26 | SWEGEN | ss3016033517 | Nov 08, 2017 (151) |
| 27 | MCHAISSO | ss3063880746 | Nov 08, 2017 (151) |
| 28 | MCHAISSO | ss3065667479 | Nov 08, 2017 (151) |
| 29 | BEROUKHIMLAB | ss3644418548 | Oct 12, 2018 (152) |
| 30 | URBANLAB | ss3650721661 | Oct 12, 2018 (152) |
| 31 | EGCUT_WGS | ss3682887648 | Jul 13, 2019 (153) |
| 32 | EVA_DECODE | ss3701069497 | Jul 13, 2019 (153) |
| 33 | ACPOP | ss3742283490 | Jul 13, 2019 (153) |
| 34 | PACBIO | ss3788288846 | Jul 13, 2019 (153) |
| 35 | PACBIO | ss3793231895 | Jul 13, 2019 (153) |
| 36 | PACBIO | ss3798118098 | Jul 13, 2019 (153) |
| 37 | KHV_HUMAN_GENOMES | ss3820288397 | Jul 13, 2019 (153) |
| 38 | EVA | ss3835017317 | Apr 27, 2020 (154) |
| 39 | EVA | ss3841121732 | Apr 27, 2020 (154) |
| 40 | EVA | ss3846620923 | Apr 27, 2020 (154) |
| 41 | KOGIC | ss3979460435 | Apr 27, 2020 (154) |
| 42 | EVA | ss3986076688 | Apr 27, 2021 (155) |
| 43 | TOMMO_GENOMICS | ss6173465636 | Nov 01, 2024 (157) |
| 44 | EVA | ss6322598579 | Nov 01, 2024 (157) |
| 45 | EVA | ss6328053303 | Nov 01, 2024 (157) |
| 46 | YEGNASUBRAMANIAN_LAB | ss6347303327 | Nov 01, 2024 (157) |
| 47 | KOGIC | ss6396368521 | Nov 01, 2024 (157) |
| 48 | EVA | ss6404510602 | Nov 01, 2024 (157) |
| 49 | GNOMAD | ss6462581411 | Nov 01, 2024 (157) |
| 50 | TOPMED | ss8046208883 | Nov 01, 2024 (157) |
| 51 | TOMMO_GENOMICS | ss8223835671 | Nov 01, 2024 (157) |
| 52 | 1000G_HIGH_COVERAGE | ss8304205370 | Nov 01, 2024 (157) |
| 53 | HUGCELL_USP | ss8497136688 | Nov 01, 2024 (157) |
| 54 | 1000G_HIGH_COVERAGE | ss8608415968 | Nov 01, 2024 (157) |
| 55 | SANFORD_IMAGENETICS | ss8624405642 | Nov 01, 2024 (157) |
| 56 | SANFORD_IMAGENETICS | ss8660691480 | Nov 01, 2024 (157) |
| 57 | TOMMO_GENOMICS | ss8780511204 | Nov 01, 2024 (157) |
| 58 | YY_MCH | ss8816799634 | Nov 01, 2024 (157) |
| 59 | EVA | ss8827134468 | Nov 01, 2024 (157) |
| 60 | EVA | ss8851930092 | Nov 01, 2024 (157) |
| 61 | EVA | ss8872898002 | Nov 01, 2024 (157) |
| 62 | EVA | ss8952090283 | Nov 01, 2024 (157) |
| 63 | GNOMAD | ss10025563763 | Nov 01, 2024 (157) |
| 64 | 1000Genomes | NC_000018.9 - 673444 | Oct 12, 2018 (152) |
| 65 | 1000Genomes_30X | NC_000018.10 - 673444 | Nov 01, 2024 (157) |
| 66 | The Avon Longitudinal Study of Parents and Children | NC_000018.9 - 673444 | Oct 12, 2018 (152) |
| 67 | Genetic variation in the Estonian population | NC_000018.9 - 673444 | Oct 12, 2018 (152) |
| 68 | The Danish reference pan genome | NC_000018.9 - 673444 | Apr 27, 2020 (154) |
| 69 | gnomAD v4 - Exomes | NC_000018.10 - 673444 | Nov 01, 2024 (157) |
| 70 | gnomAD v4 - Genomes | NC_000018.10 - 673444 | Nov 01, 2024 (157) |
| 71 | Genome of the Netherlands Release 5 | NC_000018.9 - 673444 | Apr 27, 2020 (154) |
| 72 | Korean Genome Project | NC_000018.10 - 673444 | Apr 27, 2020 (154) |
| 73 | Korean Genome Project 4K | NC_000018.10 - 673444 | Nov 01, 2024 (157) |
| 74 | Northern Sweden | NC_000018.9 - 673444 | Jul 13, 2019 (153) |
| 75 | 38KJPN | NC_000018.10 - 673444 | Nov 01, 2024 (157) |
| 76 | TopMed | NC_000018.10 - 673444 | Apr 27, 2021 (155) |
| 77 | UK 10K study - Twins | NC_000018.9 - 673444 | Oct 12, 2018 (152) |
| 78 | A Vietnamese Genetic Variation Database | NC_000018.9 - 673444 | Jul 13, 2019 (153) |
| 79 | ALFA | NC_000018.10 - 673444 | Nov 01, 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) |
|---|---|
| rs57141594 | May 23, 2008 (130) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss289342503, ss294926625, ss327815351, ss327942722, ss328233946, ss552548570, ss552908812, ss553629390 | NC_000018.8:663443:TTAAAG: | NC_000018.10:673443:TTAAAGTTA:TTA | (self) |
| ss80100234, ss80877284 | NC_000018.8:663446:AAGTTA: | NC_000018.10:673443:TTAAAGTTA:TTA | (self) |
| 73118391, 40511487, 28625896, 580289, 18046259, 15568355, 40511487, 8953227, ss499330696, ss993410023, ss1377073731, ss1575102268, ss1708876597, ss1708876679, ss1808915444, ss1968449945, ss2031354279, ss2629101203, ss2953290152, ss3016033517, ss3644418548, ss3682887648, ss3742283490, ss3788288846, ss3793231895, ss3798118098, ss3835017317, ss3841121732, ss3986076688, ss6322598579, ss6328053303, ss6347303327, ss6404510602, ss8223835671, ss8624405642, ss8660691480, ss8827134468, ss8952090283 | NC_000018.9:673443:TTAAAG: | NC_000018.10:673443:TTAAAGTTA:TTA | (self) |
| 95941903, 57921613, 553107090, 35838436, 46220419, 190841456, 261754546, ss3063880746, ss3065667479, ss3650721661, ss3701069497, ss3820288397, ss3846620923, ss3979460435, ss6173465636, ss6396368521, ss6462581411, ss8046208883, ss8304205370, ss8497136688, ss8608415968, ss8780511204, ss8816799634, ss8851930092, ss8872898002, ss10025563763 | NC_000018.10:673443:TTAAAG: | NC_000018.10:673443:TTAAAGTTA:TTA | (self) |
| 2393271477 | NC_000018.10:673443:TTAAAGTTA:TTA | NC_000018.10:673443:TTAAAGTTA:TTA | (self) |
| ss18855, ss288499278 | NT_010859.14:663443:TTAAAG: | NC_000018.10:673443:TTAAAGTTA:TTA | (self) |
| ss103602352 | NT_010859.14:663446:AAGTTA: | NC_000018.10:673443:TTAAAGTTA:TTA | (self) |
| ss1536858396 | NC_000018.9:673443::TTAAAG |
NC_000018.10:673443:TTAAAGTTA:TTAA…
NC_000018.10:673443:TTAAAGTTA:TTAAAGTTAAAGTTA |
(self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 19190136 | Association of thymidylate synthase gene with endometrial cancer risk in a Chinese population. | Xu WH et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
| 22486600 | Multifactorial pharmacogenetic analysis in colorectal cancer patients receiving 5-fluorouracil-based therapy together with cetuximab-irinotecan. | Etienne-Grimaldi MC et al. | 2012 | British journal of clinical pharmacology |
| 22616673 | Global tests of P-values for multifactor dimensionality reduction models in selection of optimal number of target genes. | Dai H et al. | 2012 | BioData mining |
| 23294634 | Risk score modeling of multiple gene to gene interactions using aggregated-multifactor dimensionality reduction. | Dai H et al. | 2013 | BioData mining |
| 31395900 | Sex-Related Differences in Impact on Safety of Pharmacogenetic Profile for Colon Cancer Patients Treated with FOLFOX-4 or XELOX Adjuvant Chemotherapy. | Ruzzo A et al. | 2019 | Scientific reports |
| 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 |
| 35056973 | TYMS 3'-UTR Polymorphism: A Novel Association with FOLFIRINOX-Induced Neurotoxicity in Pancreatic Cancer Patients. | Emelyanova M et al. | 2021 | Pharmaceutics |
| 35335935 | Role of Pharmacogenetics in the Treatment of Acute Myeloid Leukemia: Systematic Review and Future Perspectives. | Pinto-Merino Á et al. | 2022 | Pharmaceutics |
| 37108492 | Pharmacogenomics on the Treatment Response in Patients with Psoriasis: An Updated Review. | Wang CY et al. | 2023 | International journal of molecular sciences |
| 37256234 | Pharmacogenomic-guided dosing of fluoropyrimidines beyond DPYD: time for a polygenic algorithm? | Maslarinou A et al. | 2023 | Frontiers in pharmacology |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
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.
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.