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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
chr1:84006 (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
delG=0.02635 (1964/74528, GnomAD)
delG=0.04052 (664/16388, 8.3KJPN)
delG=0.0000 (0/9698, ALFA) (+ 2 more)
delG=0.0039 (7/1788, Korea1K)
delG=0.03 (1/40, GENOME_DK)
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.84006del
GRCh37.p13 chr 1 NC_000001.10:g.84006del

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 9698 G=1.0000 =0.0000
European Sub 5796 G=1.0000 =0.0000
African Sub 2666 G=1.0000 =0.0000
African Others Sub 106 G=1.000 =0.000
African American Sub 2560 G=1.0000 =0.0000
Asian Sub 96 G=1.00 =0.00
East Asian Sub 76 G=1.00 =0.00
Other Asian Sub 20 G=1.00 =0.00
Latin American 1 Sub 132 G=1.000 =0.000
Latin American 2 Sub 546 G=1.000 =0.000
South Asian Sub 54 G=1.00 =0.00
Other Sub 408 G=1.000 =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 74528 G=0.97365 delG=0.02635
gnomAD - Genomes European Sub 34586 G=0.96646 delG=0.03354
gnomAD - Genomes African Sub 26232 G=0.97514 delG=0.02486
gnomAD - Genomes American Sub 7954 G=0.9883 delG=0.0117
gnomAD - Genomes East Asian Sub 2984 G=0.9936 delG=0.0064
gnomAD - Genomes Ashkenazi Jewish Sub 1618 G=0.9895 delG=0.0105
gnomAD - Genomes Other Sub 1154 G=0.9801 delG=0.0199
8.3KJPN JAPANESE Study-wide 16388 G=0.95948 delG=0.04052
Korean Genome Project KOREAN Study-wide 1788 G=0.9961 delG=0.0039
The Danish reference pan genome Danish Study-wide 40 G=0.97 delG=0.03

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 G= delG
GRCh38.p13 chr 1 NC_000001.11:g.84006= NC_000001.11:g.84006del
GRCh37.p13 chr 1 NC_000001.10:g.84006= NC_000001.10:g.84006del

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#.

7 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss498763763 May 04, 2012 (137)
2 EVA_GENOME_DK ss1573867084 Apr 01, 2015 (144)
3 TOPMED ss3066327007 Nov 08, 2017 (151)
4 EVA_DECODE ss3685990659 Jul 12, 2019 (153)
5 KOGIC ss3943623134 Apr 25, 2020 (154)
6 GNOMAD ss3986894019 Apr 25, 2021 (155)
7 TOMMO_GENOMICS ss5142034324 Apr 25, 2021 (155)
8 The Danish reference pan genome NC_000001.10 - 84006 Apr 25, 2020 (154)
9 gnomAD - Genomes NC_000001.11 - 84006 Apr 25, 2021 (155)
10 Korean Genome Project NC_000001.11 - 84006 Apr 25, 2020 (154)
11 8.3KJPN NC_000001.10 - 84006 Apr 25, 2021 (155)
12 ALFA NC_000001.11 - 84006 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
120144, 3631, ss498763763, ss1573867084, ss5142034324 NC_000001.10:84005:G: NC_000001.11:84005:G: (self)
9192, 1135, 12750205733, ss3066327007, ss3685990659, ss3943623134, ss3986894019 NC_000001.11:84005:G: NC_000001.11:84005:G: (self)

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

No publications for rs202079949


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