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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
chr21:13022897 (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
SNV Single Nucleotide Variation
A=0.41283 (6919/16760, 8.3KJPN)
A=0.47263 (7719/16332, ALFA)
A=0.4165 (1217/2922, KOREAN) (+ 3 more)
A=0.4121 (755/1832, Korea1K)
A=0.464 (259/558, SGDP_PRJ)
A=0.458 (99/216, Qatari)
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 21 NC_000021.9:g.13022897A>G
GRCh37.p13 chr 21 NC_000021.8:g.14395218A>G

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 16332 A=0.47263 G=0.52737
European Sub 12080 A=0.49305 G=0.50695
African Sub 2816 A=0.3810 G=0.6190
African Others Sub 108 A=0.389 G=0.611
African American Sub 2708 A=0.3807 G=0.6193
Asian Sub 108 A=0.463 G=0.537
East Asian Sub 84 A=0.46 G=0.54
Other Asian Sub 24 A=0.46 G=0.54
Latin American 1 Sub 146 A=0.445 G=0.555
Latin American 2 Sub 610 A=0.493 G=0.507
South Asian Sub 94 A=0.49 G=0.51
Other Sub 478 A=0.477 G=0.523


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
8.3KJPN JAPANESE Study-wide 16760 A=0.41283 G=0.58717
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.4165 G=0.5835
Korean Genome Project KOREAN Study-wide 1832 A=0.4121 G=0.5879
SGDP_PRJ Global Study-wide 558 A=0.464 G=0.536
Qatari Global Study-wide 216 A=0.458 G=0.542

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 A= G
GRCh38.p13 chr 21 NC_000021.9:g.13022897= NC_000021.9:g.13022897A>G
GRCh37.p13 chr 21 NC_000021.8:g.14395218= NC_000021.8:g.14395218A>G

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#.

26 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss618058 Jul 16, 2000 (80)
2 PERLEGEN ss3995639 Aug 25, 2003 (121)
3 BCM_SSAHASNP ss10993719 Jul 11, 2003 (117)
4 WI_SSAHASNP ss12518489 Jul 11, 2003 (117)
5 SC_SNP ss14742956 Dec 05, 2003 (119)
6 BCMHGSC_JDW ss91766857 Mar 24, 2008 (142)
7 ENSEMBL ss135656604 Dec 01, 2009 (142)
8 ENSEMBL ss142811629 Dec 01, 2009 (142)
9 GMI ss156666847 Dec 01, 2009 (142)
10 GMI ss283460449 May 04, 2012 (137)
11 GMI ss287493175 Apr 25, 2013 (138)
12 PJP ss292673890 May 09, 2011 (134)
13 DDI ss1429120851 Apr 01, 2015 (144)
14 WEILL_CORNELL_DGM ss1938466656 Feb 12, 2016 (147)
15 GRF ss2704318486 Nov 08, 2017 (151)
16 SWEGEN ss3018580344 Nov 08, 2017 (151)
17 CSHL ss3352626123 Nov 08, 2017 (151)
18 TOPMED ss3366038369 Nov 08, 2017 (151)
19 URBANLAB ss3651071901 Oct 12, 2018 (152)
20 PACBIO ss3788708633 Jul 13, 2019 (153)
21 PACBIO ss3793589932 Jul 13, 2019 (153)
22 PACBIO ss3798476165 Jul 13, 2019 (153)
23 SGDP_PRJ ss3889593993 Apr 27, 2020 (154)
24 KRGDB ss3939993893 Apr 27, 2020 (154)
25 KOGIC ss3982760157 Apr 27, 2020 (154)
26 TOMMO_GENOMICS ss5230696458 Apr 26, 2021 (155)
27 KOREAN population from KRGDB NC_000021.8 - 14395218 Apr 27, 2020 (154)
28 Korean Genome Project NC_000021.9 - 13022897 Apr 27, 2020 (154)
29 Qatari NC_000021.8 - 14395218 Apr 27, 2020 (154)
30 SGDP_PRJ NC_000021.8 - 14395218 Apr 27, 2020 (154)
31 8.3KJPN NC_000021.8 - 14395218 Apr 26, 2021 (155)
32 ALFA NC_000021.9 - 13022897 Apr 26, 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).

Associated ID History Updated (Build)
rs6517823 Aug 27, 2003 (117)
rs8175166 Apr 05, 2004 (121)
rs62220284 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss91766857, ss283460449, ss287493175, ss292673890 NC_000021.7:13317088:A:G NC_000021.9:13022896:A:G (self)
47171287, 20508578, 41610973, 88665765, ss1429120851, ss1938466656, ss2704318486, ss3018580344, ss3352626123, ss3788708633, ss3793589932, ss3798476165, ss3889593993, ss3939993893, ss5230696458 NC_000021.8:14395217:A:G NC_000021.9:13022896:A:G (self)
39138158, 15579537243, ss3366038369, ss3651071901, ss3982760157 NC_000021.9:13022896:A:G NC_000021.9:13022896:A:G (self)
ss10993719, ss12518489 NT_011512.8:57088:A:G NC_000021.9:13022896:A:G (self)
ss14742956 NT_011512.9:57088:A:G NC_000021.9:13022896:A:G (self)
ss618058, ss3995639, ss135656604, ss142811629, ss156666847 NT_011512.11:57088:A:G NC_000021.9:13022896:A: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 rs458354


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