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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.

rs200430748

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:47191-47193 (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
dupA
Variation Type
Indel Insertion and Deletion
Frequency
dupA=0.06800 (6436/94642, GnomAD)
dupA=0.04240 (503/11862, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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.p13 chr 1 NC_000001.11:g.47193dup
GRCh37.p13 chr 1 NC_000001.10:g.47193dup
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

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 AAA=0.95760 AAAA=0.04240
European Sub 7618 AAA=0.9995 AAAA=0.0005
African Sub 2816 AAA=0.8349 AAAA=0.1651
African Others Sub 108 AAA=0.815 AAAA=0.185
African American Sub 2708 AAA=0.8357 AAAA=0.1643
Asian Sub 108 AAA=1.000 AAAA=0.000
East Asian Sub 84 AAA=1.00 AAAA=0.00
Other Asian Sub 24 AAA=1.00 AAAA=0.00
Latin American 1 Sub 146 AAA=0.952 AAAA=0.048
Latin American 2 Sub 610 AAA=0.989 AAAA=0.011
South Asian Sub 94 AAA=1.00 AAAA=0.00
Other Sub 470 AAA=0.957 AAAA=0.043


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
gnomAD - Genomes Global Study-wide 94642 -

No frequency provided

dupA=0.06800
gnomAD - Genomes European Sub 45416 -

No frequency provided

dupA=0.00064
gnomAD - Genomes African Sub 33572 -

No frequency provided

dupA=0.18042
gnomAD - Genomes American Sub 9376 -

No frequency provided

dupA=0.0286
gnomAD - Genomes East Asian Sub 3048 -

No frequency provided

dupA=0.0000
gnomAD - Genomes Ashkenazi Jewish Sub 1822 -

No frequency provided

dupA=0.0000
gnomAD - Genomes Other Sub 1408 -

No frequency provided

dupA=0.0582
Allele Frequency Aggregator Total Global 11862 AAA=0.95760 dupA=0.04240
Allele Frequency Aggregator European Sub 7618 AAA=0.9995 dupA=0.0005
Allele Frequency Aggregator African Sub 2816 AAA=0.8349 dupA=0.1651
Allele Frequency Aggregator Latin American 2 Sub 610 AAA=0.989 dupA=0.011
Allele Frequency Aggregator Other Sub 470 AAA=0.957 dupA=0.043
Allele Frequency Aggregator Latin American 1 Sub 146 AAA=0.952 dupA=0.048
Allele Frequency Aggregator Asian Sub 108 AAA=1.000 dupA=0.000
Allele Frequency Aggregator South Asian Sub 94 AAA=1.00 dupA=0.00
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 AAA= dupA
GRCh38.p13 chr 1 NC_000001.11:g.47191_47193= NC_000001.11:g.47193dup
GRCh37.p13 chr 1 NC_000001.10:g.47191_47193= NC_000001.10:g.47193dup
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#.

4 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss498763756 May 04, 2012 (137)
2 GNOMAD ss2750603060 Nov 08, 2017 (151)
3 MCHAISSO ss3065282379 Nov 08, 2017 (151)
4 TOPMED ss3066319274 Nov 08, 2017 (151)
5 gnomAD - Genomes NC_000001.11 - 47191 Apr 25, 2021 (155)
6 ALFA NC_000001.11 - 47191 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
ss498763756, ss2750603060 NC_000001.10:47190::A NC_000001.11:47190:AAA:AAAA (self)
2758, ss3065282379, ss3066319274 NC_000001.11:47190::A NC_000001.11:47190:AAA:AAAA (self)
2115524177 NC_000001.11:47190:AAA:AAAA NC_000001.11:47190:AAA:AAAA
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 rs200430748

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.post596+ae089ad