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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.

rs1572881

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr13:28641767 (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.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.167282 (44278/264690, TOPMED)
A=0.163248 (22871/140100, GnomAD)
A=0.17051 (3221/18890, ALFA) (+ 15 more)
A=0.33777 (5661/16760, 8.3KJPN)
A=0.2161 (1082/5008, 1000G)
A=0.2429 (1088/4480, Estonian)
A=0.1334 (514/3854, ALSPAC)
A=0.1470 (545/3708, TWINSUK)
A=0.3321 (973/2930, KOREAN)
A=0.3537 (648/1832, Korea1K)
A=0.151 (151/998, GoNL)
A=0.195 (117/600, NorthernSweden)
A=0.202 (66/326, HapMap)
G=0.368 (84/228, SGDP_PRJ)
A=0.153 (33/216, Qatari)
A=0.402 (86/214, Vietnamese)
A=0.20 (8/40, GENOME_DK)
G=0.37 (11/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
1 citation
Genomic View
See rs on genome
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.p13 chr 13 NC_000013.11:g.28641767G>A
GRCh37.p13 chr 13 NC_000013.10:g.29215904G>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

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 18890 G=0.82949 A=0.17051
European Sub 14286 G=0.82234 A=0.17766
African Sub 2946 G=0.9121 A=0.0879
African Others Sub 114 G=0.930 A=0.070
African American Sub 2832 G=0.9114 A=0.0886
Asian Sub 112 G=0.714 A=0.286
East Asian Sub 86 G=0.70 A=0.30
Other Asian Sub 26 G=0.77 A=0.23
Latin American 1 Sub 146 G=0.842 A=0.158
Latin American 2 Sub 610 G=0.613 A=0.387
South Asian Sub 98 G=0.78 A=0.22
Other Sub 692 G=0.840 A=0.160


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=0.832718 A=0.167282
gnomAD - Genomes Global Study-wide 140100 G=0.836752 A=0.163248
gnomAD - Genomes European Sub 75872 G=0.82684 A=0.17316
gnomAD - Genomes African Sub 41994 G=0.90887 A=0.09113
gnomAD - Genomes American Sub 13634 G=0.70823 A=0.29177
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.8770 A=0.1230
gnomAD - Genomes East Asian Sub 3126 G=0.6401 A=0.3599
gnomAD - Genomes Other Sub 2150 G=0.8167 A=0.1833
8.3KJPN JAPANESE Study-wide 16760 G=0.66223 A=0.33777
1000Genomes Global Study-wide 5008 G=0.7839 A=0.2161
1000Genomes African Sub 1322 G=0.9327 A=0.0673
1000Genomes East Asian Sub 1008 G=0.6260 A=0.3740
1000Genomes Europe Sub 1006 G=0.8360 A=0.1640
1000Genomes South Asian Sub 978 G=0.802 A=0.198
1000Genomes American Sub 694 G=0.630 A=0.370
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7571 A=0.2429
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8666 A=0.1334
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8530 A=0.1470
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6679 A=0.3321
Korean Genome Project KOREAN Study-wide 1832 G=0.6463 A=0.3537
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.849 A=0.151
Northern Sweden ACPOP Study-wide 600 G=0.805 A=0.195
HapMap Global Study-wide 326 G=0.798 A=0.202
HapMap African Sub 120 G=0.950 A=0.050
HapMap American Sub 120 G=0.850 A=0.150
HapMap Asian Sub 86 G=0.51 A=0.49
SGDP_PRJ Global Study-wide 228 G=0.368 A=0.632
Qatari Global Study-wide 216 G=0.847 A=0.153
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.598 A=0.402
The Danish reference pan genome Danish Study-wide 40 G=0.80 A=0.20
Siberian Global Study-wide 30 G=0.37 A=0.63
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
GRCh38.p13 chr 13 NC_000013.11:g.28641767= NC_000013.11:g.28641767G>A
GRCh37.p13 chr 13 NC_000013.10:g.29215904= NC_000013.10:g.29215904G>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#.

54 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2417608 Oct 23, 2000 (88)
2 SC_SNP ss13254281 Dec 05, 2003 (119)
3 SSAHASNP ss21077487 Apr 05, 2004 (121)
4 PERLEGEN ss24023108 Sep 20, 2004 (123)
5 ABI ss40328905 Mar 15, 2006 (126)
6 HGSV ss83349540 Dec 14, 2007 (130)
7 HUMANGENOME_JCVI ss97145435 Feb 04, 2009 (130)
8 ILLUMINA ss120242518 Dec 01, 2009 (131)
9 ENSEMBL ss132209822 Dec 01, 2009 (131)
10 GMI ss154584440 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss167791855 Jul 04, 2010 (132)
12 1000GENOMES ss226099358 Jul 14, 2010 (132)
13 1000GENOMES ss236190619 Jul 15, 2010 (132)
14 1000GENOMES ss242698112 Jul 15, 2010 (132)
15 ILLUMINA ss244259227 Jul 04, 2010 (132)
16 GMI ss281653135 May 04, 2012 (137)
17 PJP ss291564892 May 09, 2011 (134)
18 TISHKOFF ss563571699 Apr 25, 2013 (138)
19 SSMP ss659167497 Apr 25, 2013 (138)
20 EVA-GONL ss990228555 Aug 21, 2014 (142)
21 JMKIDD_LAB ss1078963820 Aug 21, 2014 (142)
22 1000GENOMES ss1347620308 Aug 21, 2014 (142)
23 DDI ss1427140576 Apr 01, 2015 (144)
24 EVA_GENOME_DK ss1576695169 Apr 01, 2015 (144)
25 EVA_UK10K_ALSPAC ss1629957520 Apr 01, 2015 (144)
26 EVA_DECODE ss1642333117 Apr 01, 2015 (144)
27 EVA_UK10K_TWINSUK ss1672951553 Apr 01, 2015 (144)
28 HAMMER_LAB ss1807541858 Sep 08, 2015 (146)
29 WEILL_CORNELL_DGM ss1933597543 Feb 12, 2016 (147)
30 GENOMED ss1967743423 Jul 19, 2016 (147)
31 JJLAB ss2027554453 Sep 14, 2016 (149)
32 USC_VALOUEV ss2155919179 Dec 20, 2016 (150)
33 HUMAN_LONGEVITY ss2195103775 Dec 20, 2016 (150)
34 TOPMED ss2359203881 Dec 20, 2016 (150)
35 SYSTEMSBIOZJU ss2628265368 Nov 08, 2017 (151)
36 ILLUMINA ss2633043897 Nov 08, 2017 (151)
37 GRF ss2700291345 Nov 08, 2017 (151)
38 GNOMAD ss2917945713 Nov 08, 2017 (151)
39 SWEGEN ss3010774586 Nov 08, 2017 (151)
40 BIOINF_KMB_FNS_UNIBA ss3027592770 Nov 08, 2017 (151)
41 TOPMED ss3188785837 Nov 08, 2017 (151)
42 CSHL ss3350382043 Nov 08, 2017 (151)
43 URBANLAB ss3649996530 Oct 12, 2018 (152)
44 EGCUT_WGS ss3678035283 Jul 13, 2019 (153)
45 EVA_DECODE ss3694991857 Jul 13, 2019 (153)
46 ACPOP ss3739612648 Jul 13, 2019 (153)
47 EVA ss3751276064 Jul 13, 2019 (153)
48 KHV_HUMAN_GENOMES ss3816607067 Jul 13, 2019 (153)
49 EVA ss3833467021 Apr 27, 2020 (154)
50 SGDP_PRJ ss3879661147 Apr 27, 2020 (154)
51 KRGDB ss3928482623 Apr 27, 2020 (154)
52 KOGIC ss3973268621 Apr 27, 2020 (154)
53 TOPMED ss4941002405 Apr 26, 2021 (155)
54 TOMMO_GENOMICS ss5209317402 Apr 26, 2021 (155)
55 1000Genomes NC_000013.10 - 29215904 Oct 12, 2018 (152)
56 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 29215904 Oct 12, 2018 (152)
57 Genetic variation in the Estonian population NC_000013.10 - 29215904 Oct 12, 2018 (152)
58 The Danish reference pan genome NC_000013.10 - 29215904 Apr 27, 2020 (154)
59 gnomAD - Genomes NC_000013.11 - 28641767 Apr 26, 2021 (155)
60 Genome of the Netherlands Release 5 NC_000013.10 - 29215904 Apr 27, 2020 (154)
61 HapMap NC_000013.11 - 28641767 Apr 27, 2020 (154)
62 KOREAN population from KRGDB NC_000013.10 - 29215904 Apr 27, 2020 (154)
63 Korean Genome Project NC_000013.11 - 28641767 Apr 27, 2020 (154)
64 Northern Sweden NC_000013.10 - 29215904 Jul 13, 2019 (153)
65 Qatari NC_000013.10 - 29215904 Apr 27, 2020 (154)
66 SGDP_PRJ NC_000013.10 - 29215904 Apr 27, 2020 (154)
67 Siberian NC_000013.10 - 29215904 Apr 27, 2020 (154)
68 8.3KJPN NC_000013.10 - 29215904 Apr 26, 2021 (155)
69 TopMed NC_000013.11 - 28641767 Apr 26, 2021 (155)
70 UK 10K study - Twins NC_000013.10 - 29215904 Oct 12, 2018 (152)
71 A Vietnamese Genetic Variation Database NC_000013.10 - 29215904 Jul 13, 2019 (153)
72 ALFA NC_000013.11 - 28641767 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)
rs57267989 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss83349540, ss167791855, ss281653135, ss291564892, ss1642333117 NC_000013.9:28113903:G:A NC_000013.11:28641766:G:A (self)
60468749, 33584401, 23773531, 3234536, 14985023, 35660017, 12897513, 15639473, 31678127, 8435533, 67286709, 33584401, 7449689, ss226099358, ss236190619, ss242698112, ss563571699, ss659167497, ss990228555, ss1078963820, ss1347620308, ss1427140576, ss1576695169, ss1629957520, ss1672951553, ss1807541858, ss1933597543, ss1967743423, ss2027554453, ss2155919179, ss2359203881, ss2628265368, ss2633043897, ss2700291345, ss2917945713, ss3010774586, ss3350382043, ss3678035283, ss3739612648, ss3751276064, ss3833467021, ss3879661147, ss3928482623, ss5209317402 NC_000013.10:29215903:G:A NC_000013.11:28641766:G:A (self)
426390187, 955205, 29646622, 97894828, 156548063, 12357508699, ss2195103775, ss3027592770, ss3188785837, ss3649996530, ss3694991857, ss3816607067, ss3973268621, ss4941002405 NC_000013.11:28641766:G:A NC_000013.11:28641766:G:A (self)
ss13254281 NT_009799.12:10195903:G:A NC_000013.11:28641766:G:A (self)
ss21077487 NT_024524.13:10195903:G:A NC_000013.11:28641766:G:A (self)
ss2417608, ss24023108, ss40328905, ss97145435, ss120242518, ss132209822, ss154584440, ss244259227 NT_024524.14:10195903:G:A NC_000013.11:28641766:G:A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs1572881
PMID Title Author Year Journal
18840782 Genome-wide linkage and admixture mapping of type 2 diabetes in African American families from the American Diabetes Association GENNID (Genetics of NIDDM) Study Cohort. Elbein SC et al. 2009 Diabetes
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.post596+ae089ad