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.

rs544370662

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:62298-62301 (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.

Alleles
dupCTTC
Variation Type
Indel Insertion and Deletion
Frequency
dupCTTC=0.22790 (3738/16402, 8.3KJPN)
dupCTTC=0.18294 (2170/11862, ALFA)
dupCTTC=0.11 (4/36, GENOME_DK)
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 11862 CTTC=0.81706 CTTCCTTC=0.18294
European Sub 7618 CTTC=0.8750 CTTCCTTC=0.1250
African Sub 2816 CTTC=0.6609 CTTCCTTC=0.3391
African Others Sub 108 CTTC=0.685 CTTCCTTC=0.315
African American Sub 2708 CTTC=0.6599 CTTCCTTC=0.3401
Asian Sub 108 CTTC=0.778 CTTCCTTC=0.222
East Asian Sub 84 CTTC=0.77 CTTCCTTC=0.23
Other Asian Sub 24 CTTC=0.79 CTTCCTTC=0.21
Latin American 1 Sub 146 CTTC=0.863 CTTCCTTC=0.137
Latin American 2 Sub 610 CTTC=0.802 CTTCCTTC=0.198
South Asian Sub 94 CTTC=0.87 CTTCCTTC=0.13
Other Sub 470 CTTC=0.817 CTTCCTTC=0.183


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
8.3KJPN JAPANESE Study-wide 16402 -

No frequency provided

dupCTTC=0.22790
The Danish reference pan genome Danish Study-wide 36 -

No frequency provided

dupCTTC=0.11
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.p13 chr 1 NC_000001.11:g.62298_62301dup
GRCh37.p13 chr 1 NC_000001.10:g.62298_62301dup
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 CTTC= dupCTTC
GRCh38.p13 chr 1 NC_000001.11:g.62298_62301= NC_000001.11:g.62298_62301dup
GRCh37.p13 chr 1 NC_000001.10:g.62298_62301= NC_000001.10:g.62298_62301dup
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#.

8 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSMP ss663197276 Apr 01, 2015 (144)
2 SSIP ss947011643 Aug 21, 2014 (142)
3 EVA_GENOME_DK ss1573866997 Apr 01, 2015 (144)
4 INMEGENXS ss2137543944 Jul 12, 2019 (153)
5 SWEGEN ss2986142023 Nov 08, 2017 (151)
6 MCHAISSO ss3065282384 Nov 08, 2017 (151)
7 TOPMED ss3066322150 Nov 08, 2017 (151)
8 TOMMO_GENOMICS ss5142032948 Apr 25, 2021 (155)
9 The Danish reference pan genome NC_000001.10 - 62298 Apr 25, 2020 (154)
10 8.3KJPN NC_000001.10 - 62298 Apr 25, 2021 (155)
11 ALFA NC_000001.11 - 62298 Apr 25, 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
120131, 2255, ss663197276, ss947011643, ss1573866997, ss2137543944, ss2986142023, ss5142032948 NC_000001.10:62297::CTTC NC_000001.11:62297:CTTC:CTTCCTTC (self)
ss3065282384, ss3066322150 NC_000001.11:62297::CTTC NC_000001.11:62297:CTTC:CTTCCTTC (self)
11520048051 NC_000001.11:62297:CTTC:CTTCCTTC NC_000001.11:62297:CTTC:CTTCCTTC
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 rs544370662

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.post629+eb05767