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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
chr1:28591 (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.

insGGGT / insGGT
Variation Type
Indel Insertion and Deletion
insGGT=0.19785 (2244/11342, 8.3KJPN)
T=0.0516 (199/3854, ALSPAC)
insGGT=0.1183 (452/3822, ALFA) (+ 2 more)
T=0.0369 (137/3708, TWINSUK)
insGGT=0.33 (12/36, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MIR1302-2 : 2KB Upstream Variant
MIR1302-2HG : 2KB Upstream Variant
WASH7P : Intron Variant
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 3822 T=0.8817 TGGGT=0.0000, TGGT=0.1183
European Sub 2520 T=0.9079 TGGGT=0.0000, TGGT=0.0921
African Sub 806 T=0.728 TGGGT=0.000, TGGT=0.272
African Others Sub 40 T=0.72 TGGGT=0.00, TGGT=0.28
African American Sub 766 T=0.728 TGGGT=0.000, TGGT=0.272
Asian Sub 78 T=1.00 TGGGT=0.00, TGGT=0.00
East Asian Sub 60 T=1.00 TGGGT=0.00, TGGT=0.00
Other Asian Sub 18 T=1.00 TGGGT=0.00, TGGT=0.00
Latin American 1 Sub 42 T=1.00 TGGGT=0.00, TGGT=0.00
Latin American 2 Sub 234 T=1.000 TGGGT=0.000, TGGT=0.000
South Asian Sub 22 T=1.00 TGGGT=0.00, TGGT=0.00
Other Sub 120 T=0.992 TGGGT=0.000, TGGT=0.008


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
8.3KJPN JAPANESE Study-wide 11342 -

No frequency provided

The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 -

No frequency provided

UK 10K study - Twins TWIN COHORT Study-wide 3708 -

No frequency provided

The Danish reference pan genome Danish Study-wide 36 -

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.28591_28592insGGGT
GRCh38.p13 chr 1 NC_000001.11:g.28591_28592insGGT
GRCh37.p13 chr 1 NC_000001.10:g.28591_28592insGGGT
GRCh37.p13 chr 1 NC_000001.10:g.28591_28592insGGT
Gene: WASH7P, WASP family homolog 7, pseudogene (minus strand)
Molecule type Change Amino acid[Codon] SO Term
WASH7P transcript NR_024540.1:n. N/A Intron Variant
Gene: MIR1302-2, microRNA 1302-2 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MIR1302-2 transcript NR_036051.1:n. N/A Upstream Transcript Variant
Gene: MIR1302-2HG, uncharacterized MIR1302-2HG (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MIR1302-2HG transcript variant X2 XR_001737835.1:n. N/A Upstream Transcript 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.

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 T= insGGGT insGGT
GRCh38.p13 chr 1 NC_000001.11:g.28591= NC_000001.11:g.28591_28592insGGGT NC_000001.11:g.28591_28592insGGT
GRCh37.p13 chr 1 NC_000001.10:g.28591= NC_000001.10:g.28591_28592insGGGT NC_000001.10:g.28591_28592insGGT

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#.

10 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 GMI ss229263618 Oct 11, 2018 (152)
2 EVA_GENOME_DK ss1573866843 Apr 01, 2015 (144)
3 EVA_UK10K_ALSPAC ss1700140284 Apr 01, 2015 (144)
4 EVA_UK10K_TWINSUK ss1700153018 Apr 01, 2015 (144)
5 SWEGEN ss2986141654 Nov 08, 2017 (151)
6 MCHAISSO ss3063573407 Nov 08, 2017 (151)
7 MCHAISSO ss3064385946 Nov 08, 2017 (151)
8 MCHAISSO ss3065282376 Nov 08, 2017 (151)
9 TOPMED ss3066318424 Nov 08, 2017 (151)
10 TOMMO_GENOMICS ss5142031937 Apr 25, 2021 (155)
11 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 28591 Oct 11, 2018 (152)
12 The Danish reference pan genome NC_000001.10 - 28591 Apr 25, 2020 (154)
13 8.3KJPN NC_000001.10 - 28591 Apr 25, 2021 (155)
14 UK 10K study - Twins NC_000001.10 - 28591 Oct 11, 2018 (152)
15 ALFA NC_000001.11 - 28591 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
2147943847 NC_000001.11:28590:T:TGGGT NC_000001.11:28590:T:TGGGT
1, 120124, 1244, 1, ss1573866843, ss1700140284, ss1700153018, ss2986141654, ss5142031937 NC_000001.10:28590::TGG NC_000001.11:28590:T:TGGT (self)
ss3063573407, ss3064385946, ss3065282376, ss3066318424 NC_000001.11:28590::TGG NC_000001.11:28590:T:TGGT (self)
2147943847 NC_000001.11:28590:T:TGGT NC_000001.11:28590:T:TGGT
ss229263618 NT_077402.3:18591::GGT NC_000001.11:28590:T:TGGT (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 rs757557694


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