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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.

rs1053077556

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:38922-38959 (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
delTCAGCACATG(C)4AGCAGAAGG(CAC)2
Variation Type
Indel Insertion and Deletion
Frequency
delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.000042 (11/264690, TOPMED)
delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.000043 (6/140192, GnomAD)
delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.00000 (0/14050, ALFA) (+ 1 more)
delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.0005 (3/6404, 1000G_30x)
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 14050 AGGCACCACTCAGCACATGCCCCAGCAGAAGGCACCAC=1.00000 AGGCACCAC=0.00000
European Sub 9690 AGGCACCACTCAGCACATGCCCCAGCAGAAGGCACCAC=1.0000 AGGCACCAC=0.0000
African Sub 2898 AGGCACCACTCAGCACATGCCCCAGCAGAAGGCACCAC=1.0000 AGGCACCAC=0.0000
African Others Sub 114 AGGCACCACTCAGCACATGCCCCAGCAGAAGGCACCAC=1.000 AGGCACCAC=0.000
African American Sub 2784 AGGCACCACTCAGCACATGCCCCAGCAGAAGGCACCAC=1.0000 AGGCACCAC=0.0000
Asian Sub 112 AGGCACCACTCAGCACATGCCCCAGCAGAAGGCACCAC=1.000 AGGCACCAC=0.000
East Asian Sub 86 AGGCACCACTCAGCACATGCCCCAGCAGAAGGCACCAC=1.00 AGGCACCAC=0.00
Other Asian Sub 26 AGGCACCACTCAGCACATGCCCCAGCAGAAGGCACCAC=1.00 AGGCACCAC=0.00
Latin American 1 Sub 146 AGGCACCACTCAGCACATGCCCCAGCAGAAGGCACCAC=1.000 AGGCACCAC=0.000
Latin American 2 Sub 610 AGGCACCACTCAGCACATGCCCCAGCAGAAGGCACCAC=1.000 AGGCACCAC=0.000
South Asian Sub 98 AGGCACCACTCAGCACATGCCCCAGCAGAAGGCACCAC=1.00 AGGCACCAC=0.00
Other Sub 496 AGGCACCACTCAGCACATGCCCCAGCAGAAGGCACCAC=1.000 AGGCACCAC=0.000


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 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=0.999958 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.000042
gnomAD - Genomes Global Study-wide 140192 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=0.999957 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.000043
gnomAD - Genomes European Sub 75924 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=1.00000 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.00000
gnomAD - Genomes African Sub 42006 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=0.99986 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.00014
gnomAD - Genomes American Sub 13650 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=1.00000 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=1.0000 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.0000
gnomAD - Genomes East Asian Sub 3134 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=1.0000 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.0000
gnomAD - Genomes Other Sub 2154 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=1.0000 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.0000
Allele Frequency Aggregator Total Global 14050 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=1.00000 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.00000
Allele Frequency Aggregator European Sub 9690 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=1.0000 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.0000
Allele Frequency Aggregator African Sub 2898 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=1.0000 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=1.000 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.000
Allele Frequency Aggregator Other Sub 496 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=1.000 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=1.000 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.000
Allele Frequency Aggregator Asian Sub 112 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=1.000 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.000
Allele Frequency Aggregator South Asian Sub 98 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=1.00 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.00
1000Genomes_30x Global Study-wide 6404 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=0.9995 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.0005
1000Genomes_30x African Sub 1786 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=0.9983 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.0017
1000Genomes_30x Europe Sub 1266 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=1.0000 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.0000
1000Genomes_30x South Asian Sub 1202 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=1.0000 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.0000
1000Genomes_30x East Asian Sub 1170 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=1.0000 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.0000
1000Genomes_30x American Sub 980 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2=1.000 delTCAGCACATG(C)4AGCAGAAGG(CAC)2=0.000
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 16 NC_000016.10:g.38931_38959del
GRCh37.p13 chr 16 NC_000016.9:g.88931_88959del
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 AGG(CAC)2TCAGCACATG(C)4AGCAGAAGG(CAC)2= delTCAGCACATG(C)4AGCAGAAGG(CAC)2
GRCh38.p14 chr 16 NC_000016.10:g.38922_38959= NC_000016.10:g.38931_38959del
GRCh37.p13 chr 16 NC_000016.9:g.88922_88959= NC_000016.9:g.88931_88959del
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#.

5 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4295184409 Apr 26, 2021 (155)
2 TOPMED ss5004236487 Apr 26, 2021 (155)
3 1000G_HIGH_COVERAGE ss5299753467 Oct 16, 2022 (156)
4 HUGCELL_USP ss5493330894 Oct 16, 2022 (156)
5 1000G_HIGH_COVERAGE ss5601805042 Oct 16, 2022 (156)
6 1000Genomes_30x NC_000016.10 - 38922 Oct 16, 2022 (156)
7 gnomAD - Genomes NC_000016.10 - 38922 Apr 26, 2021 (155)
8 TopMed NC_000016.10 - 38922 Apr 26, 2021 (155)
9 ALFA NC_000016.10 - 38922 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
89330977, 479813081, 219782148, ss4295184409, ss5004236487, ss5299753467, ss5493330894, ss5601805042 NC_000016.10:38921:AGGCACCACTCAGCA…

NC_000016.10:38921:AGGCACCACTCAGCACATGCCCCAGCAGA:

NC_000016.10:38921:AGGCACCACTCAGCA…

NC_000016.10:38921:AGGCACCACTCAGCACATGCCCCAGCAGAAGGCACCAC:AGGCACCAC

(self)
9368131804 NC_000016.10:38921:AGGCACCACTCAGCA…

NC_000016.10:38921:AGGCACCACTCAGCACATGCCCCAGCAGAAGGCACCAC:AGGCACCAC

NC_000016.10:38921:AGGCACCACTCAGCA…

NC_000016.10:38921:AGGCACCACTCAGCACATGCCCCAGCAGAAGGCACCAC:AGGCACCAC

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss2136396547 NC_000016.9:88921:AGGCACCACTCAGCAC…

NC_000016.9:88921:AGGCACCACTCAGCACATGCCCCAGCAGA:

NC_000016.10:38921:AGGCACCACTCAGCA…

NC_000016.10:38921:AGGCACCACTCAGCACATGCCCCAGCAGAAGGCACCAC:AGGCACCAC

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 rs1053077556

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