Name: rs1491389223
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.

rs1491389223

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:232660204-232660205 (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: insATT
Variation Type: Indel Insertion and Deletion
Frequency: insATT=0.00282 (111/39332, GnomAD)
insATT=0.00076 (9/11862, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: EFHD1 : 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	HTRZ	HWEP
Total	Global	11862	TT=0.99924	TTATT=0.00076	0.998483	0.001517	0
European	Sub	7618	TT=1.0000	TTATT=0.0000	1.0	0.0	N/A
African	Sub	2816	TT=0.9975	TTATT=0.0025	0.995028	0.004972	0
African Others	Sub	108	TT=1.000	TTATT=0.000	1.0	0.0	N/A
African American	Sub	2708	TT=0.9974	TTATT=0.0026	0.99483	0.00517	0
Asian	Sub	108	TT=1.000	TTATT=0.000	1.0	0.0	N/A
East Asian	Sub	84	TT=1.00	TTATT=0.00	1.0	0.0	N/A
Other Asian	Sub	24	TT=1.00	TTATT=0.00	1.0	0.0	N/A
Latin American 1	Sub	146	TT=1.000	TTATT=0.000	1.0	0.0	N/A
Latin American 2	Sub	610	TT=1.000	TTATT=0.000	1.0	0.0	N/A
South Asian	Sub	94	TT=1.00	TTATT=0.00	1.0	0.0	N/A
Other	Sub	470	TT=0.996	TTATT=0.004	0.991489	0.008511	0

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	39332	- No frequency provided	insATT=0.00282
gnomAD - Genomes	European	Sub	27534	- No frequency provided	insATT=0.00007
gnomAD - Genomes	African	Sub	5606	- No frequency provided	insATT=0.0180
gnomAD - Genomes	American	Sub	3924	- No frequency provided	insATT=0.0010
gnomAD - Genomes	Ashkenazi Jewish	Sub	1368	- No frequency provided	insATT=0.0000
gnomAD - Genomes	Other	Sub	724	- No frequency provided	insATT=0.006
gnomAD - Genomes	East Asian	Sub	176	- No frequency provided	insATT=0.000
Allele Frequency Aggregator	Total	Global	11862	TT=0.99924	insATT=0.00076
Allele Frequency Aggregator	European	Sub	7618	TT=1.0000	insATT=0.0000
Allele Frequency Aggregator	African	Sub	2816	TT=0.9975	insATT=0.0025
Allele Frequency Aggregator	Latin American 2	Sub	610	TT=1.000	insATT=0.000
Allele Frequency Aggregator	Other	Sub	470	TT=0.996	insATT=0.004
Allele Frequency Aggregator	Latin American 1	Sub	146	TT=1.000	insATT=0.000
Allele Frequency Aggregator	Asian	Sub	108	TT=1.000	insATT=0.000
Allele Frequency Aggregator	South Asian	Sub	94	TT=1.00	insATT=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 2	NC_000002.12:g.232660205_232660206insATT
GRCh37.p13 chr 2	NC_000002.11:g.233524915_233524916insATT
EFHD1 RefSeqGene	NG_051251.1:g.59149_59150insATT

Gene: EFHD1, EF-hand domain family member D1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
EFHD1 transcript variant 2	NM_001243252.2:c.15-2597_… NM_001243252.2:c.15-2597_15-2596insATT	N/A	Intron Variant
EFHD1 transcript variant 3	NM_001308395.2:c.-34-2597… NM_001308395.2:c.-34-2597_-34-2596insATT	N/A	Intron Variant
EFHD1 transcript variant 1	NM_025202.4:c.303-2597_30… NM_025202.4:c.303-2597_303-2596insATT	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	TT=	insATT
GRCh38.p14 chr 2	NC_000002.12:g.232660204_232660205=	NC_000002.12:g.232660205_232660206insATT
GRCh37.p13 chr 2	NC_000002.11:g.233524914_233524915=	NC_000002.11:g.233524915_233524916insATT
EFHD1 RefSeqGene	NG_051251.1:g.59148_59149=	NG_051251.1:g.59149_59150insATT
EFHD1 transcript variant 2	NM_001243252.1:c.15-2598=	NM_001243252.1:c.15-2597_15-2596insATT
EFHD1 transcript variant 2	NM_001243252.2:c.15-2598=	NM_001243252.2:c.15-2597_15-2596insATT
EFHD1 transcript variant 3	NM_001308395.2:c.-34-2598=	NM_001308395.2:c.-34-2597_-34-2596insATT
EFHD1 transcript variant 1	NM_025202.3:c.303-2598=	NM_025202.3:c.303-2597_303-2596insATT
EFHD1 transcript variant 1	NM_025202.4:c.303-2598=	NM_025202.4:c.303-2597_303-2596insATT

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#.

3 SubSNP, 2 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss2787619230	Jan 10, 2018 (151)
2	1000G_HIGH_COVERAGE	ss5252433665	Oct 12, 2022 (156)
3	HUGCELL_USP	ss5452005388	Oct 12, 2022 (156)
4	gnomAD - Genomes	NC_000002.12 - 232660204	Apr 26, 2021 (155)
5	ALFA	NC_000002.12 - 232660204	Apr 26, 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
ss2787619230	NC_000002.11:233524913::TTA	NC_000002.12:232660203:TT:TTATT	(self)
94227543, ss5252433665, ss5452005388	NC_000002.12:232660203::TTA	NC_000002.12:232660203:TT:TTATT	(self)
6714709306	NC_000002.12:232660203:TT:TTATT	NC_000002.12:232660203:TT:TTATT	(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 rs1491389223

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491389223