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.

rs202029170

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:278166-278170 (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
delGAG / dupGAG
Variation Type
Indel Insertion and Deletion
Frequency
delGAG=0.197628 (23747/120160, GnomAD)
delGAG=0.10874 (1801/16562, 8.3KJPN)
delGAG=0.17667 (2878/16290, ALFA) (+ 3 more)
delGAG=0.1237 (217/1754, Korea1K)
delGAG=0.119 (71/598, NorthernSweden)
delGAG=0.28 (10/36, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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.278168_278170del
GRCh38.p13 chr 1 NC_000001.11:g.278168_278170dup
GRCh37.p13 chr 1 NC_000001.10:g.247919_247921del
GRCh37.p13 chr 1 NC_000001.10:g.247919_247921dup
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 16290 AGGAG=0.82333 AG=0.17667
European Sub 12038 AGGAG=0.84416 AG=0.15584
African Sub 2816 AGGAG=0.7276 AG=0.2724
African Others Sub 108 AGGAG=0.722 AG=0.278
African American Sub 2708 AGGAG=0.7278 AG=0.2722
Asian Sub 108 AGGAG=0.870 AG=0.130
East Asian Sub 84 AGGAG=0.89 AG=0.11
Other Asian Sub 24 AGGAG=0.79 AG=0.21
Latin American 1 Sub 146 AGGAG=0.719 AG=0.281
Latin American 2 Sub 610 AGGAG=0.884 AG=0.116
South Asian Sub 94 AGGAG=0.91 AG=0.09
Other Sub 478 AGGAG=0.789 AG=0.211


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
gnomAD - Genomes Global Study-wide 120160 AGGAG=0.802372 delGAG=0.197628
gnomAD - Genomes European Sub 66950 AGGAG=0.83979 delGAG=0.16021
gnomAD - Genomes African Sub 34098 AGGAG=0.71262 delGAG=0.28738
gnomAD - Genomes American Sub 11810 AGGAG=0.84759 delGAG=0.15241
gnomAD - Genomes Ashkenazi Jewish Sub 2948 AGGAG=0.7449 delGAG=0.2551
gnomAD - Genomes East Asian Sub 2592 AGGAG=0.8769 delGAG=0.1231
gnomAD - Genomes Other Sub 1762 AGGAG=0.8008 delGAG=0.1992
8.3KJPN JAPANESE Study-wide 16562 AGGAG=0.89126 delGAG=0.10874
Korean Genome Project KOREAN Study-wide 1754 AGGAG=0.8763 delGAG=0.1237
Northern Sweden ACPOP Study-wide 598 AGGAG=0.881 delGAG=0.119
The Danish reference pan genome Danish Study-wide 36 AGGAG=0.72 delGAG=0.28
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 AGGAG= delGAG dupGAG
GRCh38.p13 chr 1 NC_000001.11:g.278166_278170= NC_000001.11:g.278168_278170del NC_000001.11:g.278168_278170dup
GRCh37.p13 chr 1 NC_000001.10:g.247917_247921= NC_000001.10:g.247919_247921del NC_000001.10:g.247919_247921dup
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#.

14 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss498763775 May 04, 2012 (137)
2 SSMP ss663176747 Apr 01, 2015 (144)
3 DDI ss1536213872 Apr 01, 2015 (144)
4 EVA_GENOME_DK ss1573867274 Apr 01, 2015 (144)
5 JJLAB ss2030297684 Sep 14, 2016 (149)
6 GNOMAD ss2750615777 Nov 08, 2017 (151)
7 SWEGEN ss2986144335 Nov 08, 2017 (151)
8 MCHAISSO ss3064385959 Nov 08, 2017 (151)
9 TOPMED ss3066349985 Nov 08, 2017 (151)
10 BEROUKHIMLAB ss3644051478 Oct 11, 2018 (152)
11 EVA_DECODE ss3685991073 Jul 12, 2019 (153)
12 ACPOP ss3726715515 Jul 12, 2019 (153)
13 KOGIC ss3943625095 Apr 25, 2020 (154)
14 TOMMO_GENOMICS ss5142040119 Apr 25, 2021 (155)
15 The Danish reference pan genome NC_000001.10 - 247917 Apr 25, 2020 (154)
16 gnomAD - Genomes NC_000001.11 - 278166 Apr 25, 2021 (155)
17 Korean Genome Project NC_000001.11 - 278166 Apr 25, 2020 (154)
18 Northern Sweden NC_000001.10 - 247917 Jul 12, 2019 (153)
19 8.3KJPN NC_000001.10 - 247917 Apr 25, 2021 (155)
20 ALFA NC_000001.11 - 278166 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
120169, 380, 9426, ss498763775, ss663176747, ss1573867274, ss2030297684, ss2750615777, ss2986144335, ss3644051478, ss3726715515, ss5142040119 NC_000001.10:247916:AGG: NC_000001.11:278165:AGGAG:AG (self)
27320, 3096, ss3064385959, ss3066349985, ss3685991073, ss3943625095 NC_000001.11:278165:AGG: NC_000001.11:278165:AGGAG:AG (self)
3489524806 NC_000001.11:278165:AGGAG:AG NC_000001.11:278165:AGGAG:AG
ss1536213872 NC_000001.10:247916::AGG NC_000001.11:278165:AGGAG:AGGAGGAG (self)
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 rs202029170

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