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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.

rs149056240

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:906711-906712 (GRCh38.p13) 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
insTCT / insTGGG
Variation Type
Insertion
Frequency
insTGGG=0.0150 (67/4480, Estonian)
insTGGG=0.0148 (66/4470, ALFA)
insTGGG=0.015 (9/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC284600 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 1 NC_000001.11:g.906711_906712insTCT
GRCh38.p13 chr 1 NC_000001.11:g.906711_906712insTGGG
GRCh37.p13 chr 1 NC_000001.10:g.842091_842092insTCT
GRCh37.p13 chr 1 NC_000001.10:g.842091_842092insTGGG
Gene: LOC284600, uncharacterized LOC284600 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC284600 transcript XR_002958526.1: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.

Not Reported in ClinVar

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 4470 =0.9852 TGGG=0.0148
European Sub 4462 =0.9852 TGGG=0.0148
African Sub 0 =0 TGGG=0
African Others Sub 0 =0 TGGG=0
African American Sub 0 =0 TGGG=0
Asian Sub 0 =0 TGGG=0
East Asian Sub 0 =0 TGGG=0
Other Asian Sub 0 =0 TGGG=0
Latin American 1 Sub 0 =0 TGGG=0
Latin American 2 Sub 0 =0 TGGG=0
South Asian Sub 0 =0 TGGG=0
Other Sub 8 =1.0 TGGG=0.0


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
Genetic variation in the Estonian population Estonian Study-wide 4480 -

No frequency provided

insTGGG=0.0150
Northern Sweden ACPOP Study-wide 600 -

No frequency provided

insTGGG=0.015
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 = insTCT insTGGG
GRCh38.p13 chr 1 NC_000001.11:g.906711_906712= NC_000001.11:g.906711_906712insTCT NC_000001.11:g.906711_906712insTGGG
GRCh37.p13 chr 1 NC_000001.10:g.842091_842092= NC_000001.10:g.842091_842092insTCT NC_000001.10:g.842091_842092insTGGG
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#.

8 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss325997526 May 09, 2011 (134)
2 JJLAB ss2030297766 Sep 14, 2016 (149)
3 SWEGEN ss2986150664 Nov 08, 2017 (151)
4 EGCUT_WGS ss3654261883 Jul 12, 2019 (153)
5 ACPOP ss3726716799 Jul 12, 2019 (153)
6 EVA ss3825981640 Apr 25, 2020 (154)
7 GNOMAD ss3986935957 Apr 25, 2021 (155)
8 GNOMAD ss3986935958 Apr 25, 2021 (155)
9 Genetic variation in the Estonian population NC_000001.10 - 842092 Oct 11, 2018 (152)
10 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 80344 (NC_000001.11:906711::TCT 1/140256)
Row 80345 (NC_000001.11:906711::TGGG 1117/140218)

- Apr 25, 2021 (155)
11 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 80344 (NC_000001.11:906711::TCT 1/140256)
Row 80345 (NC_000001.11:906711::TGGG 1117/140218)

- Apr 25, 2021 (155)
12 Northern Sweden NC_000001.10 - 842092 Jul 12, 2019 (153)
13 ALFA NC_000001.11 - 906712 Apr 25, 2021 (155)
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
ss325997526 NC_000001.9:831954::TCT NC_000001.11:906711::TCT (self)
ss3986935957 NC_000001.11:906711::TCT NC_000001.11:906711::TCT
131, 1664, ss2030297766, ss2986150664, ss3654261883, ss3726716799, ss3825981640 NC_000001.10:842091::TGGG NC_000001.11:906711::TGGG (self)
8668349845, ss3986935958 NC_000001.11:906711::TGGG NC_000001.11:906711::TGGG
Help

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

No publications for rs149056240

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.post596+ae089ad