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

Examples: rs268, BRCA1 and more Advanced search

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.

rs2823288

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr21:15448569 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.219185 (58016/264690, TOPMED)
A=0.216425 (30280/139910, GnomAD)
A=0.15433 (4361/28258, 14KJPN) (+ 17 more)
A=0.24654 (4558/18488, ALFA)
A=0.15615 (2617/16760, 8.3KJPN)
A=0.1715 (1098/6404, 1000G_30x)
A=0.1731 (867/5008, 1000G)
A=0.2734 (1225/4480, Estonian)
A=0.3129 (1206/3854, ALSPAC)
A=0.2864 (1062/3708, TWINSUK)
A=0.1317 (386/2930, KOREAN)
A=0.1326 (243/1832, Korea1K)
A=0.311 (310/998, GoNL)
A=0.202 (121/600, NorthernSweden)
A=0.174 (57/328, HapMap)
A=0.319 (69/216, Qatari)
A=0.125 (27/216, Vietnamese)
G=0.460 (80/174, SGDP_PRJ)
A=0.28 (11/40, GENOME_DK)
G=0.45 (10/22, Siberian)
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 18488 G=0.75346 A=0.24654, T=0.00000
European Sub 13980 G=0.71931 A=0.28069, T=0.00000
African Sub 2850 G=0.9200 A=0.0800, T=0.0000
African Others Sub 114 G=0.956 A=0.044, T=0.000
African American Sub 2736 G=0.9185 A=0.0815, T=0.0000
Asian Sub 112 G=0.848 A=0.152, T=0.000
East Asian Sub 86 G=0.81 A=0.19, T=0.00
Other Asian Sub 26 G=0.96 A=0.04, T=0.00
Latin American 1 Sub 146 G=0.733 A=0.267, T=0.000
Latin American 2 Sub 610 G=0.739 A=0.261, T=0.000
South Asian Sub 98 G=0.78 A=0.22, T=0.00
Other Sub 692 G=0.756 A=0.244, T=0.000


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
TopMed Global Study-wide 264690 G=0.780815 A=0.219185
gnomAD - Genomes Global Study-wide 139910 G=0.783575 A=0.216425
gnomAD - Genomes European Sub 75762 G=0.71649 A=0.28351
gnomAD - Genomes African Sub 41924 G=0.90571 A=0.09429
gnomAD - Genomes American Sub 13634 G=0.76199 A=0.23801
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.7930 A=0.2070
gnomAD - Genomes East Asian Sub 3120 G=0.8667 A=0.1333
gnomAD - Genomes Other Sub 2146 G=0.7675 A=0.2325
14KJPN JAPANESE Study-wide 28258 G=0.84567 A=0.15433
Allele Frequency Aggregator Total Global 18488 G=0.75346 A=0.24654, T=0.00000
Allele Frequency Aggregator European Sub 13980 G=0.71931 A=0.28069, T=0.00000
Allele Frequency Aggregator African Sub 2850 G=0.9200 A=0.0800, T=0.0000
Allele Frequency Aggregator Other Sub 692 G=0.756 A=0.244, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.739 A=0.261, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.733 A=0.267, T=0.000
Allele Frequency Aggregator Asian Sub 112 G=0.848 A=0.152, T=0.000
Allele Frequency Aggregator South Asian Sub 98 G=0.78 A=0.22, T=0.00
8.3KJPN JAPANESE Study-wide 16760 G=0.84385 A=0.15615
1000Genomes_30x Global Study-wide 6404 G=0.8285 A=0.1715
1000Genomes_30x African Sub 1786 G=0.9496 A=0.0504
1000Genomes_30x Europe Sub 1266 G=0.7077 A=0.2923
1000Genomes_30x South Asian Sub 1202 G=0.8186 A=0.1814
1000Genomes_30x East Asian Sub 1170 G=0.8624 A=0.1376
1000Genomes_30x American Sub 980 G=0.736 A=0.264
1000Genomes Global Study-wide 5008 G=0.8269 A=0.1731
1000Genomes African Sub 1322 G=0.9470 A=0.0530
1000Genomes East Asian Sub 1008 G=0.8542 A=0.1458
1000Genomes Europe Sub 1006 G=0.7117 A=0.2883
1000Genomes South Asian Sub 978 G=0.815 A=0.185
1000Genomes American Sub 694 G=0.742 A=0.258
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7266 A=0.2734
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6871 A=0.3129
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7136 A=0.2864
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.8683 A=0.1317
Korean Genome Project KOREAN Study-wide 1832 G=0.8674 A=0.1326
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.689 A=0.311
Northern Sweden ACPOP Study-wide 600 G=0.798 A=0.202
HapMap Global Study-wide 328 G=0.826 A=0.174
HapMap African Sub 120 G=0.958 A=0.042
HapMap American Sub 120 G=0.675 A=0.325
HapMap Asian Sub 88 G=0.85 A=0.15
Qatari Global Study-wide 216 G=0.681 A=0.319
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.875 A=0.125
SGDP_PRJ Global Study-wide 174 G=0.460 A=0.540
The Danish reference pan genome Danish Study-wide 40 G=0.72 A=0.28
Siberian Global Study-wide 22 G=0.45 A=0.55
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.15448569G>A
GRCh38.p14 chr 21 NC_000021.9:g.15448569G>T
GRCh37.p13 chr 21 NC_000021.8:g.16820888G>A
GRCh37.p13 chr 21 NC_000021.8:g.16820888G>T
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 G= A T
GRCh38.p14 chr 21 NC_000021.9:g.15448569= NC_000021.9:g.15448569G>A NC_000021.9:g.15448569G>T
GRCh37.p13 chr 21 NC_000021.8:g.16820888= NC_000021.8:g.16820888G>A NC_000021.8:g.16820888G>T
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#.

65 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss3998004 Sep 28, 2001 (100)
2 BCM_SSAHASNP ss10975432 Jul 11, 2003 (116)
3 BCM_SSAHASNP ss13569415 Dec 05, 2003 (123)
4 PERLEGEN ss24720177 Sep 20, 2004 (123)
5 ABI ss44270319 Mar 13, 2006 (126)
6 BCMHGSC_JDW ss91775528 Mar 24, 2008 (129)
7 HUMANGENOME_JCVI ss96156007 Feb 06, 2009 (130)
8 ENSEMBL ss138285860 Dec 01, 2009 (131)
9 ENSEMBL ss143073720 Dec 01, 2009 (131)
10 GMI ss156692213 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss167677526 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss171831475 Jul 04, 2010 (132)
13 1000GENOMES ss228462717 Jul 14, 2010 (132)
14 WTCCC ss230386167 Jul 04, 2010 (132)
15 1000GENOMES ss237911167 Jul 15, 2010 (132)
16 1000GENOMES ss244064237 Jul 15, 2010 (132)
17 GMI ss283471404 May 04, 2012 (137)
18 GMI ss287497382 Apr 25, 2013 (138)
19 PJP ss292677161 May 09, 2011 (134)
20 ILLUMINA ss410926113 Sep 17, 2011 (135)
21 TISHKOFF ss566382341 Apr 25, 2013 (138)
22 SSMP ss662288397 Apr 25, 2013 (138)
23 EVA-GONL ss994936097 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1082354713 Aug 21, 2014 (142)
25 1000GENOMES ss1365618759 Aug 21, 2014 (142)
26 DDI ss1429128539 Apr 01, 2015 (144)
27 EVA_GENOME_DK ss1579589241 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1639205062 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1682199095 Apr 01, 2015 (144)
30 EVA_DECODE ss1698999394 Apr 01, 2015 (144)
31 WEILL_CORNELL_DGM ss1938487971 Feb 12, 2016 (147)
32 GENOMED ss1969179523 Jul 19, 2016 (147)
33 JJLAB ss2030013287 Sep 14, 2016 (149)
34 ILLUMINA ss2094920878 Dec 20, 2016 (150)
35 USC_VALOUEV ss2158612638 Dec 20, 2016 (150)
36 HUMAN_LONGEVITY ss2244409152 Dec 20, 2016 (150)
37 SYSTEMSBIOZJU ss2629503102 Nov 08, 2017 (151)
38 GRF ss2704335546 Nov 08, 2017 (151)
39 GNOMAD ss2969934842 Nov 08, 2017 (151)
40 SWEGEN ss3018618429 Nov 08, 2017 (151)
41 BIOINF_KMB_FNS_UNIBA ss3028841368 Nov 08, 2017 (151)
42 CSHL ss3352637034 Nov 08, 2017 (151)
43 URBANLAB ss3651076289 Oct 12, 2018 (152)
44 EGCUT_WGS ss3685189404 Jul 13, 2019 (153)
45 EVA_DECODE ss3707395957 Jul 13, 2019 (153)
46 ACPOP ss3743578168 Jul 13, 2019 (153)
47 EVA ss3758901914 Jul 13, 2019 (153)
48 KHV_HUMAN_GENOMES ss3822059594 Jul 13, 2019 (153)
49 EVA ss3835779739 Apr 27, 2020 (154)
50 SGDP_PRJ ss3889642554 Apr 27, 2020 (154)
51 KRGDB ss3940052136 Apr 27, 2020 (154)
52 KOGIC ss3982795468 Apr 27, 2020 (154)
53 TOPMED ss5095798011 Apr 26, 2021 (155)
54 TOMMO_GENOMICS ss5230786933 Apr 26, 2021 (155)
55 1000G_HIGH_COVERAGE ss5309626516 Oct 13, 2022 (156)
56 HUGCELL_USP ss5501727456 Oct 13, 2022 (156)
57 EVA ss5512268262 Oct 13, 2022 (156)
58 1000G_HIGH_COVERAGE ss5616478844 Oct 13, 2022 (156)
59 SANFORD_IMAGENETICS ss5663665273 Oct 13, 2022 (156)
60 TOMMO_GENOMICS ss5791095816 Oct 13, 2022 (156)
61 YY_MCH ss5818295809 Oct 13, 2022 (156)
62 EVA ss5838809814 Oct 13, 2022 (156)
63 EVA ss5853226792 Oct 13, 2022 (156)
64 EVA ss5891680666 Oct 13, 2022 (156)
65 EVA ss5958550858 Oct 13, 2022 (156)
66 1000Genomes NC_000021.8 - 16820888 Oct 12, 2018 (152)
67 1000Genomes_30x NC_000021.9 - 15448569 Oct 13, 2022 (156)
68 The Avon Longitudinal Study of Parents and Children NC_000021.8 - 16820888 Oct 12, 2018 (152)
69 Genetic variation in the Estonian population NC_000021.8 - 16820888 Oct 12, 2018 (152)
70 The Danish reference pan genome NC_000021.8 - 16820888 Apr 27, 2020 (154)
71 gnomAD - Genomes NC_000021.9 - 15448569 Apr 26, 2021 (155)
72 Genome of the Netherlands Release 5 NC_000021.8 - 16820888 Apr 27, 2020 (154)
73 HapMap NC_000021.9 - 15448569 Apr 27, 2020 (154)
74 KOREAN population from KRGDB NC_000021.8 - 16820888 Apr 27, 2020 (154)
75 Korean Genome Project NC_000021.9 - 15448569 Apr 27, 2020 (154)
76 Northern Sweden NC_000021.8 - 16820888 Jul 13, 2019 (153)
77 Qatari NC_000021.8 - 16820888 Apr 27, 2020 (154)
78 SGDP_PRJ NC_000021.8 - 16820888 Apr 27, 2020 (154)
79 Siberian NC_000021.8 - 16820888 Apr 27, 2020 (154)
80 8.3KJPN NC_000021.8 - 16820888 Apr 26, 2021 (155)
81 14KJPN NC_000021.9 - 15448569 Oct 13, 2022 (156)
82 TopMed NC_000021.9 - 15448569 Apr 26, 2021 (155)
83 UK 10K study - Twins NC_000021.8 - 16820888 Oct 12, 2018 (152)
84 A Vietnamese Genetic Variation Database NC_000021.8 - 16820888 Jul 13, 2019 (153)
85 ALFA NC_000021.9 - 15448569 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)
rs9754116 Sep 24, 2004 (123)
rs17275253 Oct 07, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss91775528, ss167677526, ss171831475, ss283471404, ss287497382, ss292677161, ss1698999394, ss2094920878 NC_000021.7:15742758:G:A NC_000021.9:15448568:G:A (self)
79111103, 43775029, 30927652, 5754180, 19498675, 47229530, 16863033, 20529893, 41659534, 11128992, 88756240, 43775029, 9653266, ss228462717, ss237911167, ss244064237, ss566382341, ss662288397, ss994936097, ss1082354713, ss1365618759, ss1429128539, ss1579589241, ss1639205062, ss1682199095, ss1938487971, ss1969179523, ss2030013287, ss2158612638, ss2629503102, ss2704335546, ss2969934842, ss3018618429, ss3352637034, ss3685189404, ss3743578168, ss3758901914, ss3835779739, ss3889642554, ss3940052136, ss5230786933, ss5512268262, ss5663665273, ss5838809814, ss5958550858 NC_000021.8:16820887:G:A NC_000021.9:15448568:G:A (self)
104004779, 558459605, 2174042, 39173469, 124932920, 370906957, 17142050936, ss2244409152, ss3028841368, ss3651076289, ss3707395957, ss3822059594, ss3982795468, ss5095798011, ss5309626516, ss5501727456, ss5616478844, ss5791095816, ss5818295809, ss5853226792, ss5891680666 NC_000021.9:15448568:G:A NC_000021.9:15448568:G:A (self)
ss10975432 NT_011512.8:2482758:G:A NC_000021.9:15448568:G:A (self)
ss13569415 NT_011512.9:2482758:G:A NC_000021.9:15448568:G:A (self)
ss230386167 NT_011512.10:2482758:G:A NC_000021.9:15448568:G:A (self)
ss3998004, ss24720177, ss44270319, ss96156007, ss138285860, ss143073720, ss156692213, ss410926113 NT_011512.11:2482758:G:A NC_000021.9:15448568:G:A (self)
17142050936 NC_000021.9:15448568:G:T NC_000021.9:15448568:G:T (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 rs2823288

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