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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.

rs1491141348

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr9:94621213-94621214 (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
delCA
Variation Type
Deletion
Frequency
delCA=0.00119 (25/21040, GnomAD)
delCA=0.01619 (192/11862, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FBP1 : Intron Variant
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 9 NC_000009.12:g.94621213_94621214del
GRCh37.p13 chr 9 NC_000009.11:g.97383495_97383496del
FBP1 RefSeqGene NG_008174.1:g.24036_24037del
Gene: FBP1, fructose-bisphosphatase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FBP1 transcript variant 1 NM_000507.4:c.171-723_171…

NM_000507.4:c.171-723_171-722del

N/A Intron Variant
FBP1 transcript variant 2 NM_001127628.2:c.171-723_…

NM_001127628.2:c.171-723_171-722del

N/A Intron Variant
FBP1 transcript variant X1 XM_006717005.4:c.-76-723_…

XM_006717005.4:c.-76-723_-76-722del

N/A Intron Variant
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 CA=0.98381 =0.01619
European Sub 7618 CA=0.9878 =0.0122
African Sub 2816 CA=0.9833 =0.0167
African Others Sub 108 CA=0.981 =0.019
African American Sub 2708 CA=0.9834 =0.0166
Asian Sub 108 CA=0.981 =0.019
East Asian Sub 84 CA=0.98 =0.02
Other Asian Sub 24 CA=1.00 =0.00
Latin American 1 Sub 146 CA=0.979 =0.021
Latin American 2 Sub 610 CA=0.956 =0.044
South Asian Sub 94 CA=0.98 =0.02
Other Sub 470 CA=0.962 =0.038


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 21040 CA=0.99881 delCA=0.00119
gnomAD - Genomes European Sub 13606 CA=0.99890 delCA=0.00110
gnomAD - Genomes African Sub 4726 CA=0.9979 delCA=0.0021
gnomAD - Genomes American Sub 1332 CA=1.0000 delCA=0.0000
gnomAD - Genomes Ashkenazi Jewish Sub 668 CA=1.000 delCA=0.000
gnomAD - Genomes East Asian Sub 444 CA=1.000 delCA=0.000
gnomAD - Genomes Other Sub 264 CA=1.000 delCA=0.000
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 CA= delCA
GRCh38.p13 chr 9 NC_000009.12:g.94621213_94621214= NC_000009.12:g.94621213_94621214del
GRCh37.p13 chr 9 NC_000009.11:g.97383495_97383496= NC_000009.11:g.97383495_97383496del
FBP1 RefSeqGene NG_008174.1:g.24036_24037= NG_008174.1:g.24036_24037del
FBP1 transcript variant 1 NM_000507.3:c.171-722= NM_000507.3:c.171-723_171-722del
FBP1 transcript variant 1 NM_000507.4:c.171-722= NM_000507.4:c.171-723_171-722del
FBP1 transcript variant 2 NM_001127628.1:c.171-722= NM_001127628.1:c.171-723_171-722del
FBP1 transcript variant 2 NM_001127628.2:c.171-722= NM_001127628.2:c.171-723_171-722del
FBP1 transcript variant X1 XM_006717005.4:c.-76-722= XM_006717005.4:c.-76-723_-76-722del
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#.

3 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 TOPMED ss3595281201 Jan 10, 2018 (151)
2 EVA_DECODE ss3724349818 Jul 13, 2019 (153)
3 GNOMAD ss4205906718 Apr 26, 2021 (155)
4 gnomAD - Genomes NC_000009.12 - 94621213 Apr 26, 2021 (155)
5 ALFA NC_000009.12 - 94621213 Apr 26, 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
331749571, 10753666000, ss3595281201, ss3724349818, ss4205906718 NC_000009.12:94621212:CA: NC_000009.12:94621212:CA: (self)
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 rs1491141348

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