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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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr1:53235-53236 (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
delAT=0.01202 (1171/97434, GnomAD)
delAT=0.00776 (92/11862, ALFA)
delAT=0.0046 (23/5008, 1000G)
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 11862 AT=0.99224 =0.00776
European Sub 7618 AT=0.9999 =0.0001
African Sub 2816 AT=0.9691 =0.0309
African Others Sub 108 AT=0.972 =0.028
African American Sub 2708 AT=0.9690 =0.0310
Asian Sub 108 AT=1.000 =0.000
East Asian Sub 84 AT=1.00 =0.00
Other Asian Sub 24 AT=1.00 =0.00
Latin American 1 Sub 146 AT=1.000 =0.000
Latin American 2 Sub 610 AT=0.998 =0.002
South Asian Sub 94 AT=1.00 =0.00
Other Sub 470 AT=0.994 =0.006


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 97434 AT=0.98798 delAT=0.01202
gnomAD - Genomes European Sub 47588 AT=0.99979 delAT=0.00021
gnomAD - Genomes African Sub 33832 AT=0.96752 delAT=0.03248
gnomAD - Genomes American Sub 9558 AT=0.9947 delAT=0.0053
gnomAD - Genomes East Asian Sub 3056 AT=1.0000 delAT=0.0000
gnomAD - Genomes Ashkenazi Jewish Sub 1964 AT=1.0000 delAT=0.0000
gnomAD - Genomes Other Sub 1436 AT=0.9923 delAT=0.0077
1000Genomes Global Study-wide 5008 AT=0.9954 delAT=0.0046
1000Genomes African Sub 1322 AT=0.9841 delAT=0.0159
1000Genomes East Asian Sub 1008 AT=1.0000 delAT=0.0000
1000Genomes Europe Sub 1006 AT=1.0000 delAT=0.0000
1000Genomes South Asian Sub 978 AT=1.000 delAT=0.000
1000Genomes American Sub 694 AT=0.997 delAT=0.003

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.53235_53236del
GRCh37.p13 chr 1 NC_000001.10:g.53235_53236del
OR4G4P pseudogene NG_004148.3:g.883_884del

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 AT= delAT
GRCh38.p13 chr 1 NC_000001.11:g.53235_53236= NC_000001.11:g.53235_53236del
GRCh37.p13 chr 1 NC_000001.10:g.53235_53236= NC_000001.10:g.53235_53236del
OR4G4P pseudogene NG_004148.3:g.883_884= NG_004148.3:g.883_884del

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#.

5 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss498763758 May 04, 2012 (137)
2 1000GENOMES ss1367645210 Aug 21, 2014 (142)
3 GNOMAD ss2750603484 Nov 08, 2017 (151)
4 MCHAISSO ss3065282381 Nov 08, 2017 (151)
5 TOPMED ss3066320216 Nov 08, 2017 (151)
6 1000Genomes NC_000001.10 - 53235 Oct 11, 2018 (152)
7 gnomAD - Genomes NC_000001.11 - 53235 Apr 25, 2021 (155)
8 ALFA NC_000001.11 - 53235 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
176, ss498763758, ss1367645210, ss2750603484 NC_000001.10:53234:AT: NC_000001.11:53234:AT: (self)
3417, 3018172140, ss3065282381, ss3066320216 NC_000001.11:53234:AT: NC_000001.11:53234:AT: (self)

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

No publications for rs199502715


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