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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.

rs1489355313

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:39532777-39532782 (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
delGACC
Variation Type
Indel Insertion and Deletion
Frequency
delGACC=0.000038 (10/264690, TOPMED)
delGACC=0.000022 (3/139432, GnomAD)
delGACC=0.000016 (2/127144, GnomAD_exome) (+ 1 more)
delGACC=0.00000 (0/11862, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RPS19BP1 : 2KB Upstream 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 Alt HMOZ HTRZ HWEP
Total Global 11862 CCGACC=1.00000 CC=0.00000 1.0 0.0 0.0 N/A
European Sub 7618 CCGACC=1.0000 CC=0.0000 1.0 0.0 0.0 N/A
African Sub 2816 CCGACC=1.0000 CC=0.0000 1.0 0.0 0.0 N/A
African Others Sub 108 CCGACC=1.000 CC=0.000 1.0 0.0 0.0 N/A
African American Sub 2708 CCGACC=1.0000 CC=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 CCGACC=1.000 CC=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 CCGACC=1.00 CC=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 CCGACC=1.00 CC=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 CCGACC=1.000 CC=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 CCGACC=1.000 CC=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 CCGACC=1.00 CC=0.00 1.0 0.0 0.0 N/A
Other Sub 470 CCGACC=1.000 CC=0.000 1.0 0.0 0.0 N/A


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
TopMed Global Study-wide 264690 CCGACC=0.999962 delGACC=0.000038
gnomAD - Genomes Global Study-wide 139432 CCGACC=0.999978 delGACC=0.000022
gnomAD - Genomes European Sub 75670 CCGACC=1.00000 delGACC=0.00000
gnomAD - Genomes African Sub 41610 CCGACC=0.99995 delGACC=0.00005
gnomAD - Genomes American Sub 13582 CCGACC=0.99993 delGACC=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3314 CCGACC=1.0000 delGACC=0.0000
gnomAD - Genomes East Asian Sub 3112 CCGACC=1.0000 delGACC=0.0000
gnomAD - Genomes Other Sub 2144 CCGACC=1.0000 delGACC=0.0000
gnomAD - Exomes Global Study-wide 127144 CCGACC=0.999984 delGACC=0.000016
gnomAD - Exomes European Sub 57656 CCGACC=1.00000 delGACC=0.00000
gnomAD - Exomes Asian Sub 30830 CCGACC=1.00000 delGACC=0.00000
gnomAD - Exomes American Sub 21408 CCGACC=0.99991 delGACC=0.00009
gnomAD - Exomes Ashkenazi Jewish Sub 7246 CCGACC=1.0000 delGACC=0.0000
gnomAD - Exomes African Sub 6228 CCGACC=1.0000 delGACC=0.0000
gnomAD - Exomes Other Sub 3776 CCGACC=1.0000 delGACC=0.0000
Allele Frequency Aggregator Total Global 11862 CCGACC=1.00000 delGACC=0.00000
Allele Frequency Aggregator European Sub 7618 CCGACC=1.0000 delGACC=0.0000
Allele Frequency Aggregator African Sub 2816 CCGACC=1.0000 delGACC=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 CCGACC=1.000 delGACC=0.000
Allele Frequency Aggregator Other Sub 470 CCGACC=1.000 delGACC=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 CCGACC=1.000 delGACC=0.000
Allele Frequency Aggregator Asian Sub 108 CCGACC=1.000 delGACC=0.000
Allele Frequency Aggregator South Asian Sub 94 CCGACC=1.00 delGACC=0.00
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.p14 chr 22 NC_000022.11:g.39532779_39532782del
GRCh37.p13 chr 22 NC_000022.10:g.39928784_39928787del
Gene: RPS19BP1, ribosomal protein S19 binding protein 1 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
RPS19BP1 transcript variant 1 NM_194326.4:c. N/A Upstream Transcript Variant
RPS19BP1 transcript variant 2 NR_130151.2:n. N/A Upstream Transcript 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
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 CCGACC= delGACC
GRCh38.p14 chr 22 NC_000022.11:g.39532777_39532782= NC_000022.11:g.39532779_39532782del
GRCh37.p13 chr 22 NC_000022.10:g.39928782_39928787= NC_000022.10:g.39928784_39928787del
RPS19BP1 transcript variant 1 NM_194326.3:c.-44_-39= NM_194326.3:c.-42_-39del
RPS19BP1 transcript NM_194326.2:c.-44_-39= NM_194326.2:c.-42_-39del
RPS19BP1 transcript variant 2 NR_130151.1:n.74_79= NR_130151.1:n.76_79del
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, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2745160344 Nov 08, 2017 (151)
2 GNOMAD ss4365034148 Apr 26, 2021 (155)
3 TOPMED ss5110109664 Apr 26, 2021 (155)
4 gnomAD - Genomes NC_000022.11 - 39532777 Apr 26, 2021 (155)
5 gnomAD - Exomes NC_000022.10 - 39928782 Jul 13, 2019 (153)
6 TopMed NC_000022.11 - 39532777 Apr 26, 2021 (155)
7 ALFA NC_000022.11 - 39532777 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
14492388, ss2745160344 NC_000022.10:39928781:CCGA: NC_000022.11:39532776:CCGACC:CC (self)
570713484, 385218611, ss4365034148, ss5110109664 NC_000022.11:39532776:CCGA: NC_000022.11:39532776:CCGACC:CC (self)
9027200125 NC_000022.11:39532776:CCGACC:CC NC_000022.11:39532776:CCGACC:CC (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 rs1489355313

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.post820+afb47a3d