Skip to main page content
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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr1:1127085-1127086 (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.

Variation Type
Indel Insertion and Deletion
insCCTGAATA=0.027414 (3844/140220, GnomAD)
insCCTGAATA=0.01451 (237/16332, ALFA)
insCCTGAATA=0.0272 (136/5008, 1000G) (+ 2 more)
insCCTGAATA=0.0004 (2/4480, Estonian)
insCCTGAATA=0.002 (1/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 16332 TA=0.98549 TACCTGAATA=0.01451
European Sub 12080 TA=0.99851 TACCTGAATA=0.00149
African Sub 2816 TA=0.9265 TACCTGAATA=0.0735
African Others Sub 108 TA=0.926 TACCTGAATA=0.074
African American Sub 2708 TA=0.9265 TACCTGAATA=0.0735
Asian Sub 108 TA=1.000 TACCTGAATA=0.000
East Asian Sub 84 TA=1.00 TACCTGAATA=0.00
Other Asian Sub 24 TA=1.00 TACCTGAATA=0.00
Latin American 1 Sub 146 TA=0.973 TACCTGAATA=0.027
Latin American 2 Sub 610 TA=0.998 TACCTGAATA=0.002
South Asian Sub 94 TA=1.00 TACCTGAATA=0.00
Other Sub 478 TA=0.985 TACCTGAATA=0.015


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").

Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Genomes Global Study-wide 140220 -

No frequency provided

gnomAD - Genomes European Sub 75950 -

No frequency provided

gnomAD - Genomes African Sub 41998 -

No frequency provided

gnomAD - Genomes American Sub 13664 -

No frequency provided

gnomAD - Genomes Ashkenazi Jewish Sub 3322 -

No frequency provided

gnomAD - Genomes East Asian Sub 3132 -

No frequency provided

gnomAD - Genomes Other Sub 2154 -

No frequency provided

1000Genomes Global Study-wide 5008 -

No frequency provided

1000Genomes African Sub 1322 -

No frequency provided

1000Genomes East Asian Sub 1008 -

No frequency provided

1000Genomes Europe Sub 1006 -

No frequency provided

1000Genomes South Asian Sub 978 -

No frequency provided

1000Genomes American Sub 694 -

No frequency provided

Genetic variation in the Estonian population Estonian Study-wide 4480 -

No frequency provided

Northern Sweden ACPOP Study-wide 600 -

No frequency provided


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 1 NC_000001.11:g.1127086_1127087insCCTGAATA
GRCh37.p13 chr 1 NC_000001.10:g.1062466_1062467insCCTGAATA

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

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 TA= insCCTGAATA
GRCh38.p13 chr 1 NC_000001.11:g.1127085_1127086= NC_000001.11:g.1127086_1127087insCCTGAATA
GRCh37.p13 chr 1 NC_000001.10:g.1062465_1062466= NC_000001.10:g.1062466_1062467insCCTGAATA

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#.

12 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss325997354 May 09, 2011 (134)
2 1000GENOMES ss498764002 May 04, 2012 (137)
3 TISHKOFF ss553747795 Apr 25, 2013 (138)
4 1000GENOMES ss1367645861 Aug 21, 2014 (142)
5 HAMMER_LAB ss1793717157 Sep 08, 2015 (146)
6 GNOMAD ss2750672927 Nov 08, 2017 (151)
7 MCHAISSO ss3065282697 Nov 08, 2017 (151)
8 TOPMED ss3066474632 Nov 08, 2017 (151)
9 EGCUT_WGS ss3654265609 Jul 12, 2019 (153)
10 EVA_DECODE ss3685998180 Jul 12, 2019 (153)
11 ACPOP ss3726718787 Jul 12, 2019 (153)
12 KHV_HUMAN_GENOMES ss3798747034 Jul 12, 2019 (153)
13 1000Genomes NC_000001.10 - 1062465 Oct 11, 2018 (152)
14 Genetic variation in the Estonian population NC_000001.10 - 1062465 Oct 11, 2018 (152)
15 gnomAD - Genomes NC_000001.11 - 1127085 Apr 25, 2021 (155)
16 Northern Sweden NC_000001.10 - 1062465 Jul 12, 2019 (153)
17 ALFA NC_000001.11 - 1127085 Apr 25, 2021 (155)

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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss325997354 NC_000001.9:1052327::TACCTGAA NC_000001.11:1127084:TA:TACCTGAATA (self)
15822, 3857, 3652, ss498764002, ss1367645861, ss1793717157, ss2750672927, ss3654265609, ss3726718787 NC_000001.10:1062464::TACCTGAA NC_000001.11:1127084:TA:TACCTGAATA (self)
ss553747795 NC_000001.10:1062466::CCTGAATA NC_000001.11:1127084:TA:TACCTGAATA (self)
144467, ss3065282697, ss3066474632, ss3685998180, ss3798747034 NC_000001.11:1127084::TACCTGAA NC_000001.11:1127084:TA:TACCTGAATA (self)
10681167645 NC_000001.11:1127084:TA:TACCTGAATA NC_000001.11:1127084:TA:TACCTGAATA

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

No publications for rs139701761


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.post629+eb05767