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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
chr11:108302846-108302856 (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
Clinical Significance
Reported in ClinVar
Gene : Consequence
ATM : Splice Acceptor Variant
0 citations
Genomic View
See rs on genome

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 11 NC_000011.10:g.108302849_108302856del
GRCh37.p13 chr 11 NC_000011.9:g.108173576_108173583del
ATM RefSeqGene (LRG_135) NG_009830.1:g.85018_85025del
Gene: ATM, ATM serine/threonine kinase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ATM transcript variant 2 NM_000051.4:c.5320-4_5323…


N/A Splice Acceptor Variant
ATM transcript variant 1 NM_001351834.2:c.5320-4_5…


N/A Splice Acceptor Variant
ATM transcript variant 3 NM_001351835.2:c. N/A Genic Downstream Transcript Variant
ATM transcript variant 4 NM_001351836.2:c. N/A Genic Downstream Transcript Variant
ATM transcript variant X4 XM_005271562.5:c.5320-4_5…


N/A Splice Acceptor Variant
ATM transcript variant X2 XM_006718843.4:c.5320-4_5…


N/A Splice Acceptor Variant
ATM transcript variant X12 XM_006718845.2:c.1276-4_1…


N/A Splice Acceptor Variant
ATM transcript variant X1 XM_011542840.3:c.5320-4_5…


N/A Splice Acceptor Variant
ATM transcript variant X6 XM_011542842.3:c.5155-4_5…


N/A Splice Acceptor Variant
ATM transcript variant X7 XM_011542843.2:c.5320-4_5…


N/A Splice Acceptor Variant
ATM transcript variant X8 XM_011542844.3:c.4276-4_4…


N/A Splice Acceptor Variant
ATM transcript variant X9 XM_011542845.2:c.4012-4_4…


N/A Splice Acceptor Variant
ATM transcript variant X3 XM_017017789.2:c.5320-4_5…


N/A Splice Acceptor Variant
ATM transcript variant X5 XM_017017790.2:c.5320-4_5…


N/A Splice Acceptor Variant
ATM transcript variant X10 XM_017017791.1:c.5320-4_5…


N/A Splice Acceptor Variant
ATM transcript variant X11 XM_017017792.2:c.*1-4_*4d…


N/A Splice Acceptor Variant
ATM transcript variant X13 XR_002957150.1:n. N/A Splice Acceptor Variant

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.

Allele: delCTAG(T)4 (allele ID: 357910 )
ClinVar Accession Disease Names Clinical Significance
RCV000409046.1 Ataxia-telangiectasia syndrome Likely-Pathogenic

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").


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 TTTCTAG(T)4= delCTAG(T)4
GRCh38.p13 chr 11 NC_000011.10:g.108302846_108302856= NC_000011.10:g.108302849_108302856del
GRCh37.p13 chr 11 NC_000011.9:g.108173573_108173583= NC_000011.9:g.108173576_108173583del
ATM RefSeqGene (LRG_135) NG_009830.1:g.85015_85025= NG_009830.1:g.85018_85025del
ATM transcript variant 2 NM_000051.3:c.5320-7= NM_000051.3:c.5320-4_5323del
ATM transcript variant 2 NM_000051.4:c.5320-7= NM_000051.4:c.5320-4_5323del
ATM transcript variant 1 NM_001351834.2:c.5320-7= NM_001351834.2:c.5320-4_5323del
ATM transcript variant X1 XM_005271561.1:c.5320-7= XM_005271561.1:c.5320-4_5323del
ATM transcript variant X2 XM_005271562.1:c.5320-7= XM_005271562.1:c.5320-4_5323del
ATM transcript variant X4 XM_005271562.5:c.5320-7= XM_005271562.5:c.5320-4_5323del
ATM transcript variant X3 XM_005271563.1:c.5320-7= XM_005271563.1:c.5320-4_5323del
ATM transcript variant X4 XM_005271564.1:c.4276-7= XM_005271564.1:c.4276-4_4279del
ATM transcript variant X2 XM_006718843.4:c.5320-7= XM_006718843.4:c.5320-4_5323del
ATM transcript variant X12 XM_006718845.2:c.1276-7= XM_006718845.2:c.1276-4_1279del
ATM transcript variant X1 XM_011542840.3:c.5320-7= XM_011542840.3:c.5320-4_5323del
ATM transcript variant X6 XM_011542842.3:c.5155-7= XM_011542842.3:c.5155-4_5158del
ATM transcript variant X7 XM_011542843.2:c.5320-7= XM_011542843.2:c.5320-4_5323del
ATM transcript variant X8 XM_011542844.3:c.4276-7= XM_011542844.3:c.4276-4_4279del
ATM transcript variant X9 XM_011542845.2:c.4012-7= XM_011542845.2:c.4012-4_4015del
ATM transcript variant X3 XM_017017789.2:c.5320-7= XM_017017789.2:c.5320-4_5323del
ATM transcript variant X5 XM_017017790.2:c.5320-7= XM_017017790.2:c.5320-4_5323del
ATM transcript variant X10 XM_017017791.1:c.5320-7= XM_017017791.1:c.5320-4_5323del
ATM transcript variant X11 XM_017017792.2:c.*1-7= XM_017017792.2:c.*1-4_*4del

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#.

1 SubSNP, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CLINVAR ss2137338544 Jan 09, 2017 (149)
2 ClinVar RCV000409046.1 Oct 12, 2018 (152)

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
RCV000409046.1 NC_000011.10:108302845:TTTCTAGTTTT…




ss2137338544 NC_000011.10:108302848:CTAGTTTT: NC_000011.10:108302845:TTTCTAGTTTT…



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

No publications for rs1057516540


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