Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

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.

rs522433

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr21:13022220 (GRCh38.p14) 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
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.48574 (13726/28258, 14KJPN)
T=0.48401 (8112/16760, 8.3KJPN)
T=0.4912 (2795/5690, ALFA) (+ 3 more)
T=0.4921 (1438/2922, KOREAN)
T=0.470 (252/536, SGDP_PRJ)
T=0.486 (105/216, Qatari)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome

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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 5690 T=0.4912 A=0.5088, C=0.0000
European Sub 5126 T=0.4980 A=0.5020, C=0.0000
African Sub 522 T=0.395 A=0.605, C=0.000
African Others Sub 24 T=0.46 A=0.54, C=0.00
African American Sub 498 T=0.392 A=0.608, C=0.000
Asian Sub 12 T=1.00 A=0.00, C=0.00
East Asian Sub 10 T=1.0 A=0.0, C=0.0
Other Asian Sub 2 T=1.0 A=0.0, C=0.0
Latin American 1 Sub 0 T=0 A=0, C=0
Latin American 2 Sub 14 T=1.00 A=0.00, C=0.00
South Asian Sub 0 T=0 A=0, C=0
Other Sub 16 T=0.62 A=0.38, C=0.00


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
14KJPN JAPANESE Study-wide 28258 T=0.48574 A=0.51426
8.3KJPN JAPANESE Study-wide 16760 T=0.48401 A=0.51599
Allele Frequency Aggregator Total Global 5690 T=0.4912 A=0.5088, C=0.0000
Allele Frequency Aggregator European Sub 5126 T=0.4980 A=0.5020, C=0.0000
Allele Frequency Aggregator African Sub 522 T=0.395 A=0.605, C=0.000
Allele Frequency Aggregator Other Sub 16 T=0.62 A=0.38, C=0.00
Allele Frequency Aggregator Latin American 2 Sub 14 T=1.00 A=0.00, C=0.00
Allele Frequency Aggregator Asian Sub 12 T=1.00 A=0.00, C=0.00
Allele Frequency Aggregator Latin American 1 Sub 0 T=0 A=0, C=0
Allele Frequency Aggregator South Asian Sub 0 T=0 A=0, C=0
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.4921 A=0.5079
SGDP_PRJ Global Study-wide 536 T=0.470 A=0.530
Qatari Global Study-wide 216 T=0.486 A=0.514
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.p14 chr 21 NC_000021.9:g.13022220T>A
GRCh38.p14 chr 21 NC_000021.9:g.13022220T>C
GRCh37.p13 chr 21 NC_000021.8:g.14394541T>A
GRCh37.p13 chr 21 NC_000021.8:g.14394541T>C
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
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 T= A C
GRCh38.p14 chr 21 NC_000021.9:g.13022220= NC_000021.9:g.13022220T>A NC_000021.9:g.13022220T>C
GRCh37.p13 chr 21 NC_000021.8:g.14394541= NC_000021.8:g.14394541T>A NC_000021.8:g.14394541T>C
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#.

33 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss692795 Aug 11, 2000 (83)
2 PERLEGEN ss3995637 Aug 25, 2003 (121)
3 SC_JCM ss5974199 Feb 20, 2003 (111)
4 SC_JCM ss11338323 Jul 11, 2003 (117)
5 WUGSC_SSAHASNP ss14435240 Dec 05, 2003 (119)
6 SC_SNP ss14742952 Dec 05, 2003 (119)
7 CSHL-HAPMAP ss16908413 Feb 27, 2004 (120)
8 CSHL-HAPMAP ss20132634 Feb 27, 2004 (120)
9 HGSV ss77625027 Dec 05, 2007 (129)
10 HGSV ss83833841 Dec 16, 2007 (130)
11 HGSV ss84354983 Dec 16, 2007 (130)
12 BCMHGSC_JDW ss91766850 Mar 24, 2008 (129)
13 ILLUMINA-UK ss117448614 Dec 01, 2009 (131)
14 ENSEMBL ss142570891 Dec 01, 2009 (147)
15 GMI ss156666817 Dec 01, 2009 (147)
16 GMI ss283460437 May 04, 2012 (137)
17 SSMP ss662271446 Apr 25, 2013 (138)
18 DDI ss1429120846 Apr 01, 2015 (144)
19 WEILL_CORNELL_DGM ss1938466637 Feb 12, 2016 (147)
20 GRF ss2704318471 Nov 08, 2017 (151)
21 SWEGEN ss3018580304 Nov 08, 2017 (151)
22 CSHL ss3352626110 Nov 08, 2017 (151)
23 URBANLAB ss3651071896 Oct 12, 2018 (152)
24 PACBIO ss3788708628 Jul 13, 2019 (153)
25 PACBIO ss3793589927 Jul 13, 2019 (153)
26 PACBIO ss3798476160 Jul 13, 2019 (153)
27 SGDP_PRJ ss3889593961 Apr 27, 2020 (154)
28 KRGDB ss3939993839 Apr 27, 2020 (154)
29 TOMMO_GENOMICS ss5230696390 Apr 26, 2021 (155)
30 EVA ss5438718757 Oct 13, 2022 (156)
31 SANFORD_IMAGENETICS ss5663625433 Oct 13, 2022 (156)
32 TOMMO_GENOMICS ss5790980184 Oct 13, 2022 (156)
33 YY_MCH ss5818276261 Oct 13, 2022 (156)
34 KOREAN population from KRGDB NC_000021.8 - 14394541 Apr 27, 2020 (154)
35 Qatari NC_000021.8 - 14394541 Apr 27, 2020 (154)
36 SGDP_PRJ NC_000021.8 - 14394541 Apr 27, 2020 (154)
37 8.3KJPN NC_000021.8 - 14394541 Apr 26, 2021 (155)
38 14KJPN NC_000021.9 - 13022220 Oct 13, 2022 (156)
39 ALFA NC_000021.9 - 13022220 Apr 26, 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).

Associated ID History Updated (Build)
rs2821579 Oct 08, 2002 (108)
rs7510118 Aug 27, 2003 (117)
rs8175165 Apr 05, 2004 (121)
rs61369365 May 26, 2008 (130)
rs77915900 Jul 19, 2016 (147)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77625027, ss83833841, ss84354983, ss91766850, ss117448614, ss283460437 NC_000021.7:13316411:T:A NC_000021.9:13022219:T:A (self)
47171233, 20508559, 41610941, 88665697, ss662271446, ss1429120846, ss1938466637, ss2704318471, ss3018580304, ss3352626110, ss3788708628, ss3793589927, ss3798476160, ss3889593961, ss3939993839, ss5230696390, ss5438718757, ss5663625433 NC_000021.8:14394540:T:A NC_000021.9:13022219:T:A (self)
124817288, 9809142805, ss3651071896, ss5790980184, ss5818276261 NC_000021.9:13022219:T:A NC_000021.9:13022219:T:A (self)
ss11338323 NT_011512.8:56411:T:A NC_000021.9:13022219:T:A (self)
ss14435240, ss14742952, ss16908413, ss20132634 NT_011512.9:56411:T:A NC_000021.9:13022219:T:A (self)
ss692795, ss3995637, ss5974199, ss142570891, ss156666817 NT_011512.11:56411:T:A NC_000021.9:13022219:T:A (self)
9809142805 NC_000021.9:13022219:T:C NC_000021.9:13022219:T:C (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 rs522433

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.post761+d5e8e07