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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.

rs1491074765

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr9:94624321-94624322 (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
insG
Variation Type
Insertion
Frequency
insG=0.000102 (13/127786, GnomAD)
insG=0.0029 (13/4454, ALFA)
insG=0.0005 (1/1832, Korea1K)
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.94624321_94624322insG
GRCh37.p13 chr 9 NC_000009.11:g.97386603_97386604insG
FBP1 RefSeqGene NG_008174.1:g.20928_20929insC
Gene: FBP1, fructose-bisphosphatase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FBP1 transcript variant 1 NM_000507.4:c.171-3831_17…

NM_000507.4:c.171-3831_171-3830insC

N/A Intron Variant
FBP1 transcript variant 2 NM_001127628.2:c.171-3831…

NM_001127628.2:c.171-3831_171-3830insC

N/A Intron Variant
FBP1 transcript variant X1 XM_006717005.4:c.-76-3831…

XM_006717005.4:c.-76-3831_-76-3830insC

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 4454 =0.9971 G=0.0029
European Sub 4446 =0.9971 G=0.0029
African Sub 0 =0 G=0
African Others Sub 0 =0 G=0
African American Sub 0 =0 G=0
Asian Sub 0 =0 G=0
East Asian Sub 0 =0 G=0
Other Asian Sub 0 =0 G=0
Latin American 1 Sub 0 =0 G=0
Latin American 2 Sub 0 =0 G=0
South Asian Sub 0 =0 G=0
Other Sub 8 =1.0 G=0.0


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 127786 -

No frequency provided

insG=0.000102
gnomAD - Genomes European Sub 70902 -

No frequency provided

insG=0.00007
gnomAD - Genomes African Sub 37066 -

No frequency provided

insG=0.00016
gnomAD - Genomes American Sub 11840 -

No frequency provided

insG=0.00017
gnomAD - Genomes Ashkenazi Jewish Sub 3180 -

No frequency provided

insG=0.0000
gnomAD - Genomes East Asian Sub 2908 -

No frequency provided

insG=0.0000
gnomAD - Genomes Other Sub 1890 -

No frequency provided

insG=0.0000
Korean Genome Project KOREAN Study-wide 1832 -

No frequency provided

insG=0.0005
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 = insG
GRCh38.p13 chr 9 NC_000009.12:g.94624321_94624322= NC_000009.12:g.94624321_94624322insG
GRCh37.p13 chr 9 NC_000009.11:g.97386603_97386604= NC_000009.11:g.97386603_97386604insG
FBP1 RefSeqGene NG_008174.1:g.20928_20929= NG_008174.1:g.20928_20929insC
FBP1 transcript variant 1 NM_000507.3:c.171-3831= NM_000507.3:c.171-3831_171-3830insC
FBP1 transcript variant 1 NM_000507.4:c.171-3831= NM_000507.4:c.171-3831_171-3830insC
FBP1 transcript variant 2 NM_001127628.1:c.171-3831= NM_001127628.1:c.171-3831_171-3830insC
FBP1 transcript variant 2 NM_001127628.2:c.171-3831= NM_001127628.2:c.171-3831_171-3830insC
FBP1 transcript variant X1 XM_006717005.4:c.-76-3831= XM_006717005.4:c.-76-3831_-76-3830insC
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, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2880896858 Nov 17, 2017 (151)
2 SWEGEN ss3005258983 Nov 17, 2017 (151)
3 KOGIC ss3966337677 Apr 26, 2020 (154)
4 gnomAD - Genomes NC_000009.12 - 94624322 Apr 26, 2021 (155)
5 Korean Genome Project NC_000009.12 - 94624322 Apr 26, 2020 (154)
6 ALFA NC_000009.12 - 94624322 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
ss2880896858, ss3005258983 NC_000009.11:97386603::G NC_000009.12:94624321::G (self)
331750289, 22715678, 5613611885, ss3966337677 NC_000009.12:94624321::G NC_000009.12:94624321::G (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 rs1491074765

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