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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.

rs10482849

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr21:13543734 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.080215 (21232/264690, TOPMED)
A=0.075683 (10605/140124, GnomAD)
A=0.05807 (1641/28258, 14KJPN) (+ 11 more)
A=0.05214 (985/18890, ALFA)
A=0.05704 (956/16760, 8.3KJPN)
A=0.0940 (602/6404, 1000G_30x)
A=0.0923 (462/5008, 1000G)
A=0.0619 (181/2922, KOREAN)
A=0.1030 (193/1874, HapMap)
A=0.029 (29/998, GoNL)
A=0.023 (14/600, NorthernSweden)
A=0.037 (8/216, Qatari)
A=0.075 (16/212, Vietnamese)
T=0.45 (28/62, SGDP_PRJ)
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 18890 T=0.94786 A=0.05214
European Sub 14286 T=0.97550 A=0.02450
African Sub 2946 T=0.8126 A=0.1874
African Others Sub 114 T=0.763 A=0.237
African American Sub 2832 T=0.8146 A=0.1854
Asian Sub 112 T=0.920 A=0.080
East Asian Sub 86 T=0.90 A=0.10
Other Asian Sub 26 T=1.00 A=0.00
Latin American 1 Sub 146 T=0.925 A=0.075
Latin American 2 Sub 610 T=0.984 A=0.016
South Asian Sub 98 T=0.96 A=0.04
Other Sub 692 T=0.929 A=0.071


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 T=0.919785 A=0.080215
gnomAD - Genomes Global Study-wide 140124 T=0.924317 A=0.075683
gnomAD - Genomes European Sub 75932 T=0.97440 A=0.02560
gnomAD - Genomes African Sub 41958 T=0.81658 A=0.18342
gnomAD - Genomes American Sub 13636 T=0.96517 A=0.03483
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.9594 A=0.0406
gnomAD - Genomes East Asian Sub 3122 T=0.9276 A=0.0724
gnomAD - Genomes Other Sub 2154 T=0.9401 A=0.0599
14KJPN JAPANESE Study-wide 28258 T=0.94193 A=0.05807
Allele Frequency Aggregator Total Global 18890 T=0.94786 A=0.05214
Allele Frequency Aggregator European Sub 14286 T=0.97550 A=0.02450
Allele Frequency Aggregator African Sub 2946 T=0.8126 A=0.1874
Allele Frequency Aggregator Other Sub 692 T=0.929 A=0.071
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.984 A=0.016
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.925 A=0.075
Allele Frequency Aggregator Asian Sub 112 T=0.920 A=0.080
Allele Frequency Aggregator South Asian Sub 98 T=0.96 A=0.04
8.3KJPN JAPANESE Study-wide 16760 T=0.94296 A=0.05704
1000Genomes_30x Global Study-wide 6404 T=0.9060 A=0.0940
1000Genomes_30x African Sub 1786 T=0.7906 A=0.2094
1000Genomes_30x Europe Sub 1266 T=0.9652 A=0.0348
1000Genomes_30x South Asian Sub 1202 T=0.9326 A=0.0674
1000Genomes_30x East Asian Sub 1170 T=0.9316 A=0.0684
1000Genomes_30x American Sub 980 T=0.977 A=0.023
1000Genomes Global Study-wide 5008 T=0.9077 A=0.0923
1000Genomes African Sub 1322 T=0.7950 A=0.2050
1000Genomes East Asian Sub 1008 T=0.9325 A=0.0675
1000Genomes Europe Sub 1006 T=0.9642 A=0.0358
1000Genomes South Asian Sub 978 T=0.930 A=0.070
1000Genomes American Sub 694 T=0.973 A=0.027
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9381 A=0.0619
HapMap Global Study-wide 1874 T=0.8970 A=0.1030
HapMap American Sub 760 T=0.932 A=0.068
HapMap African Sub 688 T=0.820 A=0.180
HapMap Asian Sub 254 T=0.937 A=0.063
HapMap Europe Sub 172 T=0.994 A=0.006
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.971 A=0.029
Northern Sweden ACPOP Study-wide 600 T=0.977 A=0.023
Qatari Global Study-wide 216 T=0.963 A=0.037
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.925 A=0.075
SGDP_PRJ Global Study-wide 62 T=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.13543734T>A
GRCh37.p13 chr 21 NC_000021.8:g.14916055T>A
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
GRCh38.p14 chr 21 NC_000021.9:g.13543734= NC_000021.9:g.13543734T>A
GRCh37.p13 chr 21 NC_000021.8:g.14916055= NC_000021.8:g.14916055T>A
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#.

42 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss14866769 Dec 05, 2003 (119)
2 PERLEGEN ss23813317 Sep 20, 2004 (123)
3 AFFY ss66007595 Nov 29, 2006 (127)
4 AFFY ss66505021 Nov 29, 2006 (127)
5 AFFY ss76327895 Dec 08, 2007 (130)
6 KRIBB_YJKIM ss82723159 Dec 15, 2007 (130)
7 BGI ss103787769 Dec 01, 2009 (131)
8 AFFY ss173275357 Jul 04, 2010 (132)
9 1000GENOMES ss228455494 Jul 14, 2010 (132)
10 1000GENOMES ss244059648 Jul 15, 2010 (132)
11 GMI ss283463437 May 04, 2012 (137)
12 SSMP ss662275355 Apr 25, 2013 (138)
13 EVA-GONL ss994920601 Aug 21, 2014 (142)
14 1000GENOMES ss1365563495 Aug 21, 2014 (142)
15 DDI ss1429122891 Apr 01, 2015 (144)
16 EVA_DECODE ss1698982964 Apr 01, 2015 (144)
17 EVA_SVP ss1713709181 Apr 01, 2015 (144)
18 WEILL_CORNELL_DGM ss1938472027 Feb 12, 2016 (147)
19 JJLAB ss2030005600 Sep 14, 2016 (149)
20 GRF ss2704323166 Nov 08, 2017 (151)
21 GNOMAD ss2969773934 Nov 08, 2017 (151)
22 SWEGEN ss3018591815 Nov 08, 2017 (151)
23 CSHL ss3352629106 Nov 08, 2017 (151)
24 EVA_DECODE ss3707369205 Jul 13, 2019 (153)
25 ACPOP ss3743565176 Jul 13, 2019 (153)
26 EVA ss3758885074 Jul 13, 2019 (153)
27 KHV_HUMAN_GENOMES ss3822041831 Jul 13, 2019 (153)
28 EVA ss3841511443 Apr 27, 2020 (154)
29 EVA ss3847024965 Apr 27, 2020 (154)
30 SGDP_PRJ ss3889607050 Apr 27, 2020 (154)
31 KRGDB ss3940010506 Apr 27, 2020 (154)
32 TOPMED ss5095317273 Apr 26, 2021 (155)
33 TOMMO_GENOMICS ss5230722436 Apr 26, 2021 (155)
34 1000G_HIGH_COVERAGE ss5309575643 Oct 13, 2022 (156)
35 EVA ss5438742581 Oct 13, 2022 (156)
36 1000G_HIGH_COVERAGE ss5616403159 Oct 13, 2022 (156)
37 SANFORD_IMAGENETICS ss5663635264 Oct 13, 2022 (156)
38 TOMMO_GENOMICS ss5791010894 Oct 13, 2022 (156)
39 YY_MCH ss5818281477 Oct 13, 2022 (156)
40 EVA ss5838789665 Oct 13, 2022 (156)
41 EVA ss5891629421 Oct 13, 2022 (156)
42 EVA ss5958522437 Oct 13, 2022 (156)
43 1000Genomes NC_000021.8 - 14916055 Oct 12, 2018 (152)
44 1000Genomes_30x NC_000021.9 - 13543734 Oct 13, 2022 (156)
45 gnomAD - Genomes NC_000021.9 - 13543734 Apr 26, 2021 (155)
46 Genome of the Netherlands Release 5 NC_000021.8 - 14916055 Apr 27, 2020 (154)
47 HapMap NC_000021.9 - 13543734 Apr 27, 2020 (154)
48 KOREAN population from KRGDB NC_000021.8 - 14916055 Apr 27, 2020 (154)
49 Northern Sweden NC_000021.8 - 14916055 Jul 13, 2019 (153)
50 Qatari NC_000021.8 - 14916055 Apr 27, 2020 (154)
51 SGDP_PRJ NC_000021.8 - 14916055 Apr 27, 2020 (154)
52 8.3KJPN NC_000021.8 - 14916055 Apr 26, 2021 (155)
53 14KJPN NC_000021.9 - 13543734 Oct 13, 2022 (156)
54 TopMed NC_000021.9 - 13543734 Apr 26, 2021 (155)
55 A Vietnamese Genetic Variation Database NC_000021.8 - 14916055 Jul 13, 2019 (153)
56 ALFA NC_000021.9 - 13543734 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)
rs56546004 May 26, 2008 (130)
rs59765230 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss66505021, ss76327895, ss173275357, ss283463437, ss1698982964, ss1713709181 NC_000021.7:13837925:T:A NC_000021.9:13543733:T:A (self)
79053918, 19483922, 47187900, 16850041, 20513949, 41624030, 88691743, 9646375, ss228455494, ss244059648, ss662275355, ss994920601, ss1365563495, ss1429122891, ss1938472027, ss2030005600, ss2704323166, ss2969773934, ss3018591815, ss3352629106, ss3743565176, ss3758885074, ss3841511443, ss3889607050, ss3940010506, ss5230722436, ss5438742581, ss5663635264, ss5838789665, ss5958522437 NC_000021.8:14916054:T:A NC_000021.9:13543733:T:A (self)
103929094, 558065071, 2171270, 124847998, 370426219, 7218065564, ss3707369205, ss3822041831, ss3847024965, ss5095317273, ss5309575643, ss5616403159, ss5791010894, ss5818281477, ss5891629421 NC_000021.9:13543733:T:A NC_000021.9:13543733:T:A (self)
ss14866769, ss23813317, ss66007595, ss82723159, ss103787769 NT_011512.11:577925:T:A NC_000021.9:13543733:T:A (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 rs10482849

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