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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.

rs10482862

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr21:14951514 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.123129 (32591/264690, TOPMED)
C=0.141614 (24883/175710, ALFA)
C=0.126381 (17707/140108, GnomAD) (+ 20 more)
C=0.19294 (5452/28258, 14KJPN)
C=0.19624 (3289/16760, 8.3KJPN)
C=0.1369 (877/6404, 1000G_30x)
C=0.1402 (702/5008, 1000G)
C=0.1527 (684/4480, Estonian)
C=0.1578 (608/3854, ALSPAC)
C=0.1440 (534/3708, TWINSUK)
C=0.1314 (384/2922, KOREAN)
C=0.1401 (292/2084, HGDP_Stanford)
C=0.1419 (268/1888, HapMap)
C=0.1376 (252/1832, Korea1K)
C=0.149 (149/998, GoNL)
C=0.115 (72/626, Chileans)
C=0.142 (85/600, NorthernSweden)
C=0.120 (26/216, Qatari)
C=0.181 (39/216, Vietnamese)
T=0.459 (68/148, SGDP_PRJ)
C=0.20 (8/40, GENOME_DK)
C=0.05 (2/40, Ancient Sardinia)
T=0.31 (5/16, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
2 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 175710 T=0.858386 C=0.141614
European Sub 154440 T=0.857401 C=0.142599
African Sub 5776 T=0.9179 C=0.0821
African Others Sub 210 T=0.929 C=0.071
African American Sub 5566 T=0.9175 C=0.0825
Asian Sub 418 T=0.794 C=0.206
East Asian Sub 280 T=0.825 C=0.175
Other Asian Sub 138 T=0.732 C=0.268
Latin American 1 Sub 562 T=0.899 C=0.101
Latin American 2 Sub 4758 T=0.8773 C=0.1227
South Asian Sub 4990 T=0.8008 C=0.1992
Other Sub 4766 T=0.8605 C=0.1395


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=0.876871 C=0.123129
Allele Frequency Aggregator Total Global 175710 T=0.858386 C=0.141614
Allele Frequency Aggregator European Sub 154440 T=0.857401 C=0.142599
Allele Frequency Aggregator African Sub 5776 T=0.9179 C=0.0821
Allele Frequency Aggregator South Asian Sub 4990 T=0.8008 C=0.1992
Allele Frequency Aggregator Other Sub 4766 T=0.8605 C=0.1395
Allele Frequency Aggregator Latin American 2 Sub 4758 T=0.8773 C=0.1227
Allele Frequency Aggregator Latin American 1 Sub 562 T=0.899 C=0.101
Allele Frequency Aggregator Asian Sub 418 T=0.794 C=0.206
gnomAD - Genomes Global Study-wide 140108 T=0.873619 C=0.126381
gnomAD - Genomes European Sub 75884 T=0.85109 C=0.14891
gnomAD - Genomes African Sub 41998 T=0.92071 C=0.07929
gnomAD - Genomes American Sub 13628 T=0.85434 C=0.14566
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.9069 C=0.0931
gnomAD - Genomes East Asian Sub 3126 T=0.8308 C=0.1692
gnomAD - Genomes Other Sub 2152 T=0.8820 C=0.1180
14KJPN JAPANESE Study-wide 28258 T=0.80706 C=0.19294
8.3KJPN JAPANESE Study-wide 16760 T=0.80376 C=0.19624
1000Genomes_30x Global Study-wide 6404 T=0.8631 C=0.1369
1000Genomes_30x African Sub 1786 T=0.9199 C=0.0801
1000Genomes_30x Europe Sub 1266 T=0.8744 C=0.1256
1000Genomes_30x South Asian Sub 1202 T=0.8037 C=0.1963
1000Genomes_30x East Asian Sub 1170 T=0.8154 C=0.1846
1000Genomes_30x American Sub 980 T=0.874 C=0.126
1000Genomes Global Study-wide 5008 T=0.8598 C=0.1402
1000Genomes African Sub 1322 T=0.9138 C=0.0862
1000Genomes East Asian Sub 1008 T=0.8194 C=0.1806
1000Genomes Europe Sub 1006 T=0.8718 C=0.1282
1000Genomes South Asian Sub 978 T=0.810 C=0.190
1000Genomes American Sub 694 T=0.869 C=0.131
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8473 C=0.1527
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8422 C=0.1578
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8560 C=0.1440
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.8686 C=0.1314
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.8599 C=0.1401
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.832 C=0.168
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.814 C=0.186
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.871 C=0.129
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.866 C=0.134
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.930 C=0.070
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.884 C=0.116
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.92 C=0.08
HapMap Global Study-wide 1888 T=0.8581 C=0.1419
HapMap American Sub 768 T=0.852 C=0.148
HapMap African Sub 692 T=0.870 C=0.130
HapMap Asian Sub 252 T=0.825 C=0.175
HapMap Europe Sub 176 T=0.886 C=0.114
Korean Genome Project KOREAN Study-wide 1832 T=0.8624 C=0.1376
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.851 C=0.149
Chileans Chilean Study-wide 626 T=0.885 C=0.115
Northern Sweden ACPOP Study-wide 600 T=0.858 C=0.142
Qatari Global Study-wide 216 T=0.880 C=0.120
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.819 C=0.181
SGDP_PRJ Global Study-wide 148 T=0.459 C=0.541
The Danish reference pan genome Danish Study-wide 40 T=0.80 C=0.20
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 40 T=0.95 C=0.05
Siberian Global Study-wide 16 T=0.31 C=0.69
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.14951514T>C
GRCh37.p13 chr 21 NC_000021.8:g.16323835T>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= C
GRCh38.p14 chr 21 NC_000021.9:g.14951514= NC_000021.9:g.14951514T>C
GRCh37.p13 chr 21 NC_000021.8:g.16323835= NC_000021.8:g.16323835T>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#.

104 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss14866784 Dec 05, 2003 (119)
2 CSHL-HAPMAP ss20133296 Feb 27, 2004 (120)
3 ABI ss44276781 Mar 14, 2006 (126)
4 AFFY ss66007819 Dec 01, 2006 (127)
5 ILLUMINA ss66824571 Dec 01, 2006 (127)
6 ILLUMINA ss66884900 Dec 01, 2006 (127)
7 ILLUMINA ss66981486 Dec 01, 2006 (127)
8 ILLUMINA ss70366565 May 17, 2007 (127)
9 ILLUMINA ss70480673 May 27, 2008 (130)
10 ILLUMINA ss71004441 May 17, 2007 (127)
11 ILLUMINA ss75913373 Dec 07, 2007 (129)
12 AFFY ss76717032 Dec 07, 2007 (129)
13 HGSV ss78028130 Dec 07, 2007 (129)
14 KRIBB_YJKIM ss84942908 Dec 16, 2007 (130)
15 ILLUMINA ss121311069 Dec 01, 2009 (131)
16 ILLUMINA ss152735951 Dec 01, 2009 (131)
17 ILLUMINA ss159125554 Dec 01, 2009 (131)
18 ENSEMBL ss161345493 Dec 01, 2009 (131)
19 ILLUMINA ss169402419 Jul 04, 2010 (132)
20 ILLUMINA ss170139595 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss171827597 Jul 04, 2010 (132)
22 1000GENOMES ss210964051 Jul 14, 2010 (132)
23 1000GENOMES ss228460902 Jul 14, 2010 (132)
24 1000GENOMES ss237909988 Jul 15, 2010 (132)
25 1000GENOMES ss244063106 Jul 15, 2010 (132)
26 GMI ss283470070 May 04, 2012 (137)
27 ILLUMINA ss479278888 May 04, 2012 (137)
28 ILLUMINA ss479281888 May 04, 2012 (137)
29 ILLUMINA ss484439991 May 04, 2012 (137)
30 ILLUMINA ss536609149 Sep 08, 2015 (146)
31 TISHKOFF ss566380047 Apr 25, 2013 (138)
32 SSMP ss662285998 Apr 25, 2013 (138)
33 ILLUMINA ss778732630 Aug 21, 2014 (142)
34 ILLUMINA ss782666481 Aug 21, 2014 (142)
35 ILLUMINA ss783635261 Aug 21, 2014 (142)
36 ILLUMINA ss825336296 Apr 01, 2015 (144)
37 ILLUMINA ss831917082 Apr 01, 2015 (144)
38 ILLUMINA ss832638260 Aug 21, 2014 (142)
39 ILLUMINA ss833228949 Aug 21, 2014 (142)
40 ILLUMINA ss834192140 Aug 21, 2014 (142)
41 EVA-GONL ss994932202 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1082351697 Aug 21, 2014 (142)
43 1000GENOMES ss1365604043 Aug 21, 2014 (142)
44 DDI ss1429127495 Apr 01, 2015 (144)
45 EVA_GENOME_DK ss1579587923 Apr 01, 2015 (144)
46 EVA_UK10K_ALSPAC ss1639196908 Apr 01, 2015 (144)
47 EVA_UK10K_TWINSUK ss1682190941 Apr 01, 2015 (144)
48 EVA_DECODE ss1698995591 Apr 01, 2015 (144)
49 EVA_SVP ss1713709897 Apr 01, 2015 (144)
50 ILLUMINA ss1752400144 Sep 08, 2015 (146)
51 HAMMER_LAB ss1809599984 Sep 08, 2015 (146)
52 WEILL_CORNELL_DGM ss1938484389 Feb 12, 2016 (147)
53 GENOMED ss1969178633 Jul 19, 2016 (147)
54 JJLAB ss2030011639 Sep 14, 2016 (149)
55 USC_VALOUEV ss2158610859 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2244377201 Dec 20, 2016 (150)
57 ILLUMINA ss2633827111 Nov 08, 2017 (151)
58 GRF ss2704333505 Nov 08, 2017 (151)
59 GNOMAD ss2969893428 Nov 08, 2017 (151)
60 SWEGEN ss3018613106 Nov 08, 2017 (151)
61 BIOINF_KMB_FNS_UNIBA ss3028840545 Nov 08, 2017 (151)
62 CSHL ss3352635668 Nov 08, 2017 (151)
63 ILLUMINA ss3628442128 Oct 12, 2018 (152)
64 ILLUMINA ss3631781678 Oct 12, 2018 (152)
65 ILLUMINA ss3633258693 Oct 12, 2018 (152)
66 ILLUMINA ss3633973399 Oct 12, 2018 (152)
67 ILLUMINA ss3634846989 Oct 12, 2018 (152)
68 ILLUMINA ss3635658279 Oct 12, 2018 (152)
69 ILLUMINA ss3637410426 Oct 12, 2018 (152)
70 ILLUMINA ss3638358528 Oct 12, 2018 (152)
71 ILLUMINA ss3639182552 Oct 12, 2018 (152)
72 ILLUMINA ss3639605969 Oct 12, 2018 (152)
73 ILLUMINA ss3640554287 Oct 12, 2018 (152)
74 ILLUMINA ss3643320366 Oct 12, 2018 (152)
75 EGCUT_WGS ss3685183293 Jul 13, 2019 (153)
76 EVA_DECODE ss3707389269 Jul 13, 2019 (153)
77 ACPOP ss3743575169 Jul 13, 2019 (153)
78 ILLUMINA ss3745146875 Jul 13, 2019 (153)
79 EVA ss3758897472 Jul 13, 2019 (153)
80 ILLUMINA ss3772642966 Jul 13, 2019 (153)
81 KHV_HUMAN_GENOMES ss3822055338 Jul 13, 2019 (153)
82 EVA ss3835778200 Apr 27, 2020 (154)
83 EVA ss3841515872 Apr 27, 2020 (154)
84 EVA ss3847028867 Apr 27, 2020 (154)
85 HGDP ss3847674649 Apr 27, 2020 (154)
86 SGDP_PRJ ss3889635181 Apr 27, 2020 (154)
87 KRGDB ss3940044289 Apr 27, 2020 (154)
88 KOGIC ss3982789058 Apr 27, 2020 (154)
89 EVA ss3985892716 Apr 27, 2021 (155)
90 EVA ss4017859115 Apr 27, 2021 (155)
91 TOPMED ss5095663529 Apr 27, 2021 (155)
92 TOMMO_GENOMICS ss5230770817 Apr 27, 2021 (155)
93 1000G_HIGH_COVERAGE ss5309613973 Oct 16, 2022 (156)
94 EVA ss5316024609 Oct 16, 2022 (156)
95 EVA ss5438806949 Oct 16, 2022 (156)
96 HUGCELL_USP ss5501715831 Oct 16, 2022 (156)
97 1000G_HIGH_COVERAGE ss5616459794 Oct 16, 2022 (156)
98 SANFORD_IMAGENETICS ss5663657969 Oct 16, 2022 (156)
99 TOMMO_GENOMICS ss5791075350 Oct 16, 2022 (156)
100 YY_MCH ss5818292841 Oct 16, 2022 (156)
101 EVA ss5838805208 Oct 16, 2022 (156)
102 EVA ss5853225227 Oct 16, 2022 (156)
103 EVA ss5891665677 Oct 16, 2022 (156)
104 EVA ss5958543097 Oct 16, 2022 (156)
105 1000Genomes NC_000021.8 - 16323835 Oct 12, 2018 (152)
106 1000Genomes_30x NC_000021.9 - 14951514 Oct 16, 2022 (156)
107 The Avon Longitudinal Study of Parents and Children NC_000021.8 - 16323835 Oct 12, 2018 (152)
108 Chileans NC_000021.8 - 16323835 Apr 27, 2020 (154)
109 Genetic variation in the Estonian population NC_000021.8 - 16323835 Oct 12, 2018 (152)
110 The Danish reference pan genome NC_000021.8 - 16323835 Apr 27, 2020 (154)
111 gnomAD - Genomes NC_000021.9 - 14951514 Apr 27, 2021 (155)
112 Genome of the Netherlands Release 5 NC_000021.8 - 16323835 Apr 27, 2020 (154)
113 HGDP-CEPH-db Supplement 1 NC_000021.7 - 15245706 Apr 27, 2020 (154)
114 HapMap NC_000021.9 - 14951514 Apr 27, 2020 (154)
115 KOREAN population from KRGDB NC_000021.8 - 16323835 Apr 27, 2020 (154)
116 Korean Genome Project NC_000021.9 - 14951514 Apr 27, 2020 (154)
117 Northern Sweden NC_000021.8 - 16323835 Jul 13, 2019 (153)
118 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000021.8 - 16323835 Apr 27, 2021 (155)
119 Qatari NC_000021.8 - 16323835 Apr 27, 2020 (154)
120 SGDP_PRJ NC_000021.8 - 16323835 Apr 27, 2020 (154)
121 Siberian NC_000021.8 - 16323835 Apr 27, 2020 (154)
122 8.3KJPN NC_000021.8 - 16323835 Apr 27, 2021 (155)
123 14KJPN NC_000021.9 - 14951514 Oct 16, 2022 (156)
124 TopMed NC_000021.9 - 14951514 Apr 27, 2021 (155)
125 UK 10K study - Twins NC_000021.8 - 16323835 Oct 12, 2018 (152)
126 A Vietnamese Genetic Variation Database NC_000021.8 - 16323835 Jul 13, 2019 (153)
127 ALFA NC_000021.9 - 14951514 Apr 27, 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)
rs61613717 May 27, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
352541, ss78028130, ss171827597, ss210964051, ss283470070, ss479278888, ss825336296, ss1698995591, ss1713709897, ss3639182552, ss3639605969, ss3643320366, ss3847674649 NC_000021.7:15245705:T:C NC_000021.9:14951513:T:C (self)
79095851, 43766153, 261105, 30921541, 5752862, 19494850, 47221683, 16860034, 1118643, 20526311, 41652161, 11127213, 88740124, 43766153, 9651316, ss228460902, ss237909988, ss244063106, ss479281888, ss484439991, ss536609149, ss566380047, ss662285998, ss778732630, ss782666481, ss783635261, ss831917082, ss832638260, ss833228949, ss834192140, ss994932202, ss1082351697, ss1365604043, ss1429127495, ss1579587923, ss1639196908, ss1682190941, ss1752400144, ss1809599984, ss1938484389, ss1969178633, ss2030011639, ss2158610859, ss2633827111, ss2704333505, ss2969893428, ss3018613106, ss3352635668, ss3628442128, ss3631781678, ss3633258693, ss3633973399, ss3634846989, ss3635658279, ss3637410426, ss3638358528, ss3640554287, ss3685183293, ss3743575169, ss3745146875, ss3758897472, ss3772642966, ss3835778200, ss3841515872, ss3889635181, ss3940044289, ss3985892716, ss4017859115, ss5230770817, ss5316024609, ss5438806949, ss5663657969, ss5838805208, ss5958543097 NC_000021.8:16323834:T:C NC_000021.9:14951513:T:C (self)
103985729, 558352622, 2173256, 39167059, 124912454, 370772475, 6559591948, ss2244377201, ss3028840545, ss3707389269, ss3822055338, ss3847028867, ss3982789058, ss5095663529, ss5309613973, ss5501715831, ss5616459794, ss5791075350, ss5818292841, ss5853225227, ss5891665677 NC_000021.9:14951513:T:C NC_000021.9:14951513:T:C (self)
ss20133296 NT_011512.9:1985705:T:C NC_000021.9:14951513:T:C (self)
ss14866784, ss44276781, ss66007819, ss66824571, ss66884900, ss66981486, ss70366565, ss70480673, ss71004441, ss75913373, ss76717032, ss84942908, ss121311069, ss152735951, ss159125554, ss161345493, ss169402419, ss170139595 NT_011512.11:1985705:T:C NC_000021.9:14951513: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.

2 citations for rs10482862
PMID Title Author Year Journal
22585858 Inherited variation at chromosome 12p13.33, including RAD52, influences the risk of squamous cell lung carcinoma. Shi J et al. 2012 Cancer discovery
23409076 Gene set of nuclear-encoded mitochondrial regulators is enriched for common inherited variation in obesity. Knoll N et al. 2013 PloS one
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