Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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
chr1:10129-10131 (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.

delC / dupC
Variation Type
Indel Insertion and Deletion
delC=0.00002 (2/87774, GnomAD)
dupC=0.00000 (0/11862, ALFA)
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.10131del
GRCh38.p13 chr 1 NC_000001.11:g.10131dup
GRCh37.p13 chr 1 NC_000001.10:g.10131del
GRCh37.p13 chr 1 NC_000001.10:g.10131dup
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

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 11862 CCC=1.00000 CCCC=0.00000
European Sub 7618 CCC=1.0000 CCCC=0.0000
African Sub 2816 CCC=1.0000 CCCC=0.0000
African Others Sub 108 CCC=1.000 CCCC=0.000
African American Sub 2708 CCC=1.0000 CCCC=0.0000
Asian Sub 108 CCC=1.000 CCCC=0.000
East Asian Sub 84 CCC=1.00 CCCC=0.00
Other Asian Sub 24 CCC=1.00 CCCC=0.00
Latin American 1 Sub 146 CCC=1.000 CCCC=0.000
Latin American 2 Sub 610 CCC=1.000 CCCC=0.000
South Asian Sub 94 CCC=1.00 CCCC=0.00
Other Sub 470 CCC=1.000 CCCC=0.000


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 87774 CCC=0.99998 delC=0.00002
gnomAD - Genomes European Sub 46654 CCC=0.99998 delC=0.00002
gnomAD - Genomes African Sub 26142 CCC=1.00000 delC=0.00000
gnomAD - Genomes American Sub 9486 CCC=0.9999 delC=0.0001
gnomAD - Genomes Ashkenazi Jewish Sub 2286 CCC=1.0000 delC=0.0000
gnomAD - Genomes East Asian Sub 1896 CCC=1.0000 delC=0.0000
gnomAD - Genomes Other Sub 1310 CCC=1.0000 delC=0.0000
Allele Frequency Aggregator Total Global 11862 CCC=1.00000 dupC=0.00000
Allele Frequency Aggregator European Sub 7618 CCC=1.0000 dupC=0.0000
Allele Frequency Aggregator African Sub 2816 CCC=1.0000 dupC=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 CCC=1.000 dupC=0.000
Allele Frequency Aggregator Other Sub 470 CCC=1.000 dupC=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 CCC=1.000 dupC=0.000
Allele Frequency Aggregator Asian Sub 108 CCC=1.000 dupC=0.000
Allele Frequency Aggregator South Asian Sub 94 CCC=1.00 dupC=0.00

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".

Placement CCC= delC dupC
GRCh38.p13 chr 1 NC_000001.11:g.10129_10131= NC_000001.11:g.10131del NC_000001.11:g.10131dup
GRCh37.p13 chr 1 NC_000001.10:g.10129_10131= NC_000001.10:g.10131del NC_000001.10:g.10131dup

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#.

3 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 PADH-LAB_SPU ss1713846937 Sep 08, 2015 (146)
2 TOPMED ss3066315844 Nov 08, 2017 (151)
3 GNOMAD ss3986889011 Apr 25, 2021 (155)
4 gnomAD - Genomes NC_000001.11 - 10129 Apr 25, 2021 (155)
5 ALFA NC_000001.11 - 10129 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
9, ss3986889011 NC_000001.11:10128:C: NC_000001.11:10128:CCC:CC
ss1713846937 NC_000001.10:10128::C NC_000001.11:10128:CCC:CCCC (self)
ss3066315844 NC_000001.11:10128::C NC_000001.11:10128:CCC:CCCC (self)
1564188101 NC_000001.11:10128:CCC:CCCC NC_000001.11:10128:CCC:CCCC

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

No publications for rs796688738


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