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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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr1:8843985-8844031 (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.

Variation Type
Indel Insertion and Deletion
delCTTCC(TTTC)8=0.00019 (10/52700, GnomAD)
delCTTCC(TTTC)8=0.0011 (10/8734, 8.3KJPN)
delCTTCC(TTTC)8=0.002 (2/914, Korea1K)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
0 citations
Genomic View
See rs on genome

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.8843995_8844031del
GRCh37.p13 chr 1 NC_000001.10:g.8904054_8904090del

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

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").

Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Genomes Global Study-wide 52700 (TCTT)2(TCCT)2(TTCT)7TTC=0.99981 delCTTCC(TTTC)8=0.00019
gnomAD - Genomes European Sub 28760 (TCTT)2(TCCT)2(TTCT)7TTC=0.99997 delCTTCC(TTTC)8=0.00003
gnomAD - Genomes African Sub 16248 (TCTT)2(TCCT)2(TTCT)7TTC=0.99982 delCTTCC(TTTC)8=0.00018
gnomAD - Genomes American Sub 4198 (TCTT)2(TCCT)2(TTCT)7TTC=0.9990 delCTTCC(TTTC)8=0.0010
gnomAD - Genomes Ashkenazi Jewish Sub 1964 (TCTT)2(TCCT)2(TTCT)7TTC=1.0000 delCTTCC(TTTC)8=0.0000
gnomAD - Genomes Other Sub 862 (TCTT)2(TCCT)2(TTCT)7TTC=1.000 delCTTCC(TTTC)8=0.000
gnomAD - Genomes East Asian Sub 668 (TCTT)2(TCCT)2(TTCT)7TTC=0.997 delCTTCC(TTTC)8=0.003
8.3KJPN JAPANESE Study-wide 8734 (TCTT)2(TCCT)2(TTCT)7TTC=0.9989 delCTTCC(TTTC)8=0.0011
Korean Genome Project KOREAN Study-wide 914 (TCTT)2(TCCT)2(TTCT)7TTC=0.998 delCTTCC(TTTC)8=0.002

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 (TCTT)2(TCCT)2(TTCT)7TTC= delCTTCC(TTTC)8
GRCh38.p13 chr 1 NC_000001.11:g.8843985_8844031= NC_000001.11:g.8843995_8844031del
GRCh37.p13 chr 1 NC_000001.10:g.8904044_8904090= NC_000001.10:g.8904054_8904090del

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#.

4 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 SYSTEMSBIOZJU ss2137334794 Nov 08, 2017 (151)
2 KOGIC ss3943782045 Apr 25, 2020 (154)
3 GNOMAD ss3988027316 Apr 25, 2021 (155)
4 TOMMO_GENOMICS ss5142387700 Apr 25, 2021 (155)
5 gnomAD - Genomes NC_000001.11 - 8843985 Apr 25, 2021 (155)
6 Korean Genome Project NC_000001.11 - 8843985 Apr 25, 2020 (154)
7 8.3KJPN NC_000001.10 - 8904044 Apr 25, 2021 (155)

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
357007, ss2137334794, ss5142387700 NC_000001.10:8904043:TCTTTCTTTCCTT…




1986433, 160046, ss3943782045, ss3988027316 NC_000001.11:8843984:TCTTTCTTTCCTT…





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

No publications for rs1187289437


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