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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
chr1:10617-10642 (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
delTTGCAAAGG(CGCGC)2CG=0.19372 (2275/11744, 8.3KJPN)
CGCCGTTGCAAAGG(CGCGC)2CG=0.0070 (35/5008, 1000G)
delTTGCAAAGG(CGCGC)2CG=0.131 (16/122, Korea1K) (+ 1 more)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DDX11L1 : 2KB Upstream Variant
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.10622_10642del
GRCh37.p13 chr 1 NC_000001.10:g.10622_10642del
Gene: DDX11L1, DEAD/H-box helicase 11 like 1 (pseudogene) (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
DDX11L1 transcript NR_046018.2:n. N/A Upstream Transcript 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.

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
1000Genomes Global Study-wide 5008 CGCCGTTGCAAAGG(CGCGC)2CG=0.0070 delTTGCAAAGG(CGCGC)2CG=0.9930
1000Genomes African Sub 1322 CGCCGTTGCAAAGG(CGCGC)2CG=0.0106 delTTGCAAAGG(CGCGC)2CG=0.9894
1000Genomes East Asian Sub 1008 CGCCGTTGCAAAGG(CGCGC)2CG=0.0089 delTTGCAAAGG(CGCGC)2CG=0.9911
1000Genomes Europe Sub 1006 CGCCGTTGCAAAGG(CGCGC)2CG=0.0060 delTTGCAAAGG(CGCGC)2CG=0.9940
1000Genomes South Asian Sub 978 CGCCGTTGCAAAGG(CGCGC)2CG=0.003 delTTGCAAAGG(CGCGC)2CG=0.997
1000Genomes American Sub 694 CGCCGTTGCAAAGG(CGCGC)2CG=0.004 delTTGCAAAGG(CGCGC)2CG=0.996
Korean Genome Project KOREAN Study-wide 122 CGCCGTTGCAAAGG(CGCGC)2CG=0.869 delTTGCAAAGG(CGCGC)2CG=0.131
The Danish reference pan genome Danish Study-wide 40 CGCCGTTGCAAAGG(CGCGC)2CG=0.00 delTTGCAAAGG(CGCGC)2CG=1.00

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".

GRCh38.p13 chr 1 NC_000001.11:g.10617_10642= NC_000001.11:g.10622_10642del
GRCh37.p13 chr 1 NC_000001.10:g.10617_10642= NC_000001.10:g.10622_10642del

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#.

9 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSMP ss663107070 Apr 01, 2015 (144)
2 1000GENOMES ss1367645200 Aug 21, 2014 (142)
3 EVA_GENOME_DK ss1573866481 Apr 01, 2015 (144)
4 JJLAB ss2030297668 Sep 14, 2016 (149)
5 GNOMAD ss2750600961 Nov 08, 2017 (151)
6 SWEGEN ss2986141219 Nov 08, 2017 (151)
7 KHV_HUMAN_GENOMES ss3798742392 Jul 12, 2019 (153)
8 KOGIC ss3943622049 Apr 25, 2020 (154)
9 TOMMO_GENOMICS ss5142030902 Apr 25, 2021 (155)
10 1000Genomes NC_000001.10 - 10617 Oct 11, 2018 (152)
11 The Danish reference pan genome NC_000001.10 - 10617 Apr 25, 2020 (154)
12 Korean Genome Project NC_000001.11 - 10617 Apr 25, 2020 (154)
13 8.3KJPN NC_000001.10 - 10617 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
10, 120115, 209, ss663107070, ss1367645200, ss1573866481, ss2030297668, ss2750600961, ss2986141219, ss5142030902 NC_000001.10:10616:CGCCGTTGCAAAGGC…




50, ss3798742392, ss3943622049 NC_000001.11:10616:CGCCGTTGCAAAGGC…





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

No publications for rs376342519


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