Name: rs1491330301
Published: September 21, 2022
License: Open Access

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.

rs1491330301

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:44712339-44712344 (GRCh38.p14) 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: ins(AAG)₂GAAAGA / insAGGAAAGA
Variation Type: Indel Insertion and Deletion
Frequency: insAGGAAAGA=0.000056 (7/125156, GnomAD)
insAGGAAAGA=0.00000 (0/10680, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KCNK15-AS1 : Intron Variant
LOC124904911 : Intron Variant
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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	HWEP
Total	Global	10680	GAAAGA=1.00000	GAAAGAAGGAAAGA=0.00000	1.0	N/A
European	Sub	6962	GAAAGA=1.0000	GAAAGAAGGAAAGA=0.0000	1.0	N/A
African	Sub	2294	GAAAGA=1.0000	GAAAGAAGGAAAGA=0.0000	1.0	N/A
African Others	Sub	84	GAAAGA=1.00	GAAAGAAGGAAAGA=0.00	1.0	N/A
African American	Sub	2210	GAAAGA=1.0000	GAAAGAAGGAAAGA=0.0000	1.0	N/A
Asian	Sub	108	GAAAGA=1.000	GAAAGAAGGAAAGA=0.000	1.0	N/A
East Asian	Sub	84	GAAAGA=1.00	GAAAGAAGGAAAGA=0.00	1.0	N/A
Other Asian	Sub	24	GAAAGA=1.00	GAAAGAAGGAAAGA=0.00	1.0	N/A
Latin American 1	Sub	146	GAAAGA=1.000	GAAAGAAGGAAAGA=0.000	1.0	N/A
Latin American 2	Sub	610	GAAAGA=1.000	GAAAGAAGGAAAGA=0.000	1.0	N/A
South Asian	Sub	94	GAAAGA=1.00	GAAAGAAGGAAAGA=0.00	1.0	N/A
Other	Sub	466	GAAAGA=1.000	GAAAGAAGGAAAGA=0.000	1.0	N/A

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
gnomAD - Genomes	Global	Study-wide	125156	- No frequency provided	insAGGAAAGA=0.000056
gnomAD - Genomes	European	Sub	68874	- No frequency provided	insAGGAAAGA=0.00007
gnomAD - Genomes	African	Sub	36146	- No frequency provided	insAGGAAAGA=0.00000
gnomAD - Genomes	American	Sub	12228	- No frequency provided	insAGGAAAGA=0.00016
gnomAD - Genomes	East Asian	Sub	3016	- No frequency provided	insAGGAAAGA=0.0000
gnomAD - Genomes	Ashkenazi Jewish	Sub	2982	- No frequency provided	insAGGAAAGA=0.0000
gnomAD - Genomes	Other	Sub	1910	- No frequency provided	insAGGAAAGA=0.0000
Allele Frequency Aggregator	Total	Global	10680	GAAAGA=1.00000	insAGGAAAGA=0.00000
Allele Frequency Aggregator	European	Sub	6962	GAAAGA=1.0000	insAGGAAAGA=0.0000
Allele Frequency Aggregator	African	Sub	2294	GAAAGA=1.0000	insAGGAAAGA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	GAAAGA=1.000	insAGGAAAGA=0.000
Allele Frequency Aggregator	Other	Sub	466	GAAAGA=1.000	insAGGAAAGA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	GAAAGA=1.000	insAGGAAAGA=0.000
Allele Frequency Aggregator	Asian	Sub	108	GAAAGA=1.000	insAGGAAAGA=0.000
Allele Frequency Aggregator	South Asian	Sub	94	GAAAGA=1.00	insAGGAAAGA=0.00

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.p14 chr 20	NC_000020.11:g.44712339_44712344GAAA[2]GAAGGAAAGA[1]
GRCh38.p14 chr 20	NC_000020.11:g.44712344_44712345insAGGAAAGA
GRCh37.p13 chr 20	NC_000020.10:g.43340980_43340985GAAA[2]GAAGGAAAGA[1]
GRCh37.p13 chr 20	NC_000020.10:g.43340985_43340986insAGGAAAGA

Gene: KCNK15-AS1, KCNK15 and WISP2 antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KCNK15-AS1 transcript	NR_132377.1:n.	N/A	Intron Variant

Gene: LOC124904911, uncharacterized LOC124904911 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124904911 transcript	XR_007067598.1:n.	N/A	Intron 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	GAAAGA=	ins(AAG)₂GAAAGA	insAGGAAAGA
GRCh38.p14 chr 20	NC_000020.11:g.44712339_44712344=	NC_000020.11:g.44712339_44712344GAAA[2]GAAGGAAAGA[1]	NC_000020.11:g.44712344_44712345insAGGAAAGA
GRCh37.p13 chr 20	NC_000020.10:g.43340980_43340985=	NC_000020.10:g.43340980_43340985GAAA[2]GAAGGAAAGA[1]	NC_000020.10:g.43340985_43340986insAGGAAAGA

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, 2 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss2967830445	Jan 10, 2018 (151)
2	SWEGEN	ss3018238670	Jan 10, 2018 (151)
3	gnomAD - Genomes	NC_000020.11 - 44712339	Apr 27, 2021 (155)
4	ALFA	NC_000020.11 - 44712339	Apr 27, 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
ss3018238670	NC_000020.10:43340979::GAAAGAAAGAAG	NC_000020.11:44712338:GAAAGA:GAAAG… NC_000020.11:44712338:GAAAGA:GAAAGAAAGAAGGAAAGA	(self)
ss2967830445	NC_000020.10:43340979::GAAAGAAG	NC_000020.11:44712338:GAAAGA:GAAAG… NC_000020.11:44712338:GAAAGA:GAAAGAAGGAAAGA	(self)
552898024	NC_000020.11:44712338::GAAAGAAG	NC_000020.11:44712338:GAAAGA:GAAAG… NC_000020.11:44712338:GAAAGA:GAAAGAAGGAAAGA	(self)
12093873881	NC_000020.11:44712338:GAAAGA:GAAAG… NC_000020.11:44712338:GAAAGA:GAAAGAAGGAAAGA	NC_000020.11:44712338:GAAAGA:GAAAG… NC_000020.11:44712338:GAAAGA:GAAAGAAGGAAAGA	(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 rs1491330301

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491330301