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.

rs761725800

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr1:138647-138651 (GRCh38.p12) 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
dupA
Variation Type
Indel Insertion and Deletion
Frequency
dupA=0.0 (0/2, ExAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC729737 : Non Coding Transcript Variant
LOC100996442 : Intron Variant
Publications
0 citations
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.p12 chr 1 NC_000001.11:g.138651dup
GRCh37.p13 chr 1 NC_000001.10:g.138651dup
Gene: LOC729737, uncharacterized LOC729737 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC729737 transcript NR_039983.2:n.1600dup N/A Non Coding Transcript Variant
Gene: LOC100996442, uncharacterized LOC100996442 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC100996442 transcript variant X4 XR_001737578.2:n. N/A Intron Variant
LOC100996442 transcript variant X5 XR_001737579.2:n. N/A Intron Variant
LOC100996442 transcript variant X8 XR_001737580.2:n. N/A Intron Variant
LOC100996442 transcript variant X12 XR_001737582.2:n. N/A Intron Variant
LOC100996442 transcript variant X13 XR_001737583.2:n. N/A Intron Variant
LOC100996442 transcript variant X11 XR_001737581.2:n. N/A Genic Upstream Transcript Variant
LOC100996442 transcript variant X14 XR_001737584.2:n. N/A Genic Upstream Transcript Variant
LOC100996442 transcript variant X1 XR_002958514.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X2 XR_002958515.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X3 XR_002958516.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X6 XR_002958517.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X7 XR_002958518.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X9 XR_002958519.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X10 XR_002958520.1:n. N/A Genic Downstream Transcript Variant
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

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
ExAC Global Study-wide 2 -

No frequency provided

dupA=0.0
ExAC Europe Sub 2 -

No frequency provided

dupA=0.0
ExAC African Sub 0 -

No frequency provided

dupA=0
ExAC American Sub 0 -

No frequency provided

dupA=0
ExAC Asian Sub 0 -

No frequency provided

dupA=0
ExAC Other Sub 0 -

No frequency provided

dupA=0
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 (A)5= dupA
GRCh38.p12 chr 1 NC_000001.11:g.138647_138651= NC_000001.11:g.138651dup
GRCh37.p13 chr 1 NC_000001.10:g.138647_138651= NC_000001.10:g.138651dup
LOC729737 transcript NR_039983.2:n.1596_1600= NR_039983.2:n.1600dup
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#.

2 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1711595251 Apr 01, 2015 (144)
2 GNOMAD ss2730985724 Nov 08, 2017 (151)
3 ExAC NC_000001.10 - 138647 Oct 11, 2018 (152)
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
4390042, ss1711595251, ss2730985724 NC_000001.10:138646::A NC_000001.11:138646:AAAAA:AAAAAA (self)
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 rs761725800

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.post531+5874462