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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.

rs78871147

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:38982318 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.00037 (7/18800, ALFA)
A=0.0136 (68/5008, 1000G)
A=0.014 (3/212, Qatari) (+ 1 more)
G=0.3 (2/6, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
APOBEC3B : 2KB Upstream 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 22 NC_000022.11:g.38982318G>A
GRCh38.p13 chr 22 NC_000022.11:g.38982318G>T
GRCh37.p13 chr 22 NC_000022.10:g.39378323G>A
GRCh37.p13 chr 22 NC_000022.10:g.39378323G>T
Gene: APOBEC3B, apolipoprotein B mRNA editing enzyme catalytic subunit 3B (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
APOBEC3B transcript variant 2 NM_001270411.2:c. N/A Upstream Transcript Variant
APOBEC3B transcript variant 1 NM_004900.5:c. 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

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 18800 G=0.99963 A=0.00037, T=0.00000
European Sub 14350 G=1.00000 A=0.00000, T=0.00000
African Sub 2766 G=0.9978 A=0.0022, T=0.0000
African Others Sub 106 G=1.000 A=0.000, T=0.000
African American Sub 2660 G=0.9977 A=0.0023, T=0.0000
Asian Sub 112 G=1.000 A=0.000, T=0.000
East Asian Sub 86 G=1.00 A=0.00, T=0.00
Other Asian Sub 26 G=1.00 A=0.00, T=0.00
Latin American 1 Sub 142 G=1.000 A=0.000, T=0.000
Latin American 2 Sub 608 G=1.000 A=0.000, T=0.000
South Asian Sub 98 G=1.00 A=0.00, T=0.00
Other Sub 724 G=0.999 A=0.001, T=0.000


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
1000Genomes Global Study-wide 5008 G=0.9864 A=0.0136
1000Genomes African Sub 1322 G=0.9493 A=0.0507
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.999 A=0.001
Qatari Global Study-wide 212 G=0.986 A=0.014
SGDP_PRJ Global Study-wide 6 G=0.3 A=0.7
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 G= A T
GRCh38.p13 chr 22 NC_000022.11:g.38982318= NC_000022.11:g.38982318G>A NC_000022.11:g.38982318G>T
GRCh37.p13 chr 22 NC_000022.10:g.39378323= NC_000022.10:g.39378323G>A NC_000022.10:g.39378323G>T
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#.

16 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss212123115 Jul 14, 2010 (132)
2 1000GENOMES ss228689765 Jul 14, 2010 (132)
3 ILLUMINA ss480741950 May 04, 2012 (137)
4 ILLUMINA ss484314903 May 04, 2012 (137)
5 ILLUMINA ss781306727 Sep 08, 2015 (146)
6 1000GENOMES ss1367249547 Aug 21, 2014 (142)
7 WEILL_CORNELL_DGM ss1938940429 Feb 12, 2016 (147)
8 TOPMED ss2414476174 Dec 20, 2016 (150)
9 GNOMAD ss2974626463 Nov 08, 2017 (151)
10 TOPMED ss3377726356 Nov 08, 2017 (151)
11 TOPMED ss3377726357 Nov 08, 2017 (151)
12 KHV_HUMAN_GENOMES ss3822571215 Jul 13, 2019 (153)
13 SGDP_PRJ ss3890592128 Apr 27, 2020 (154)
14 EVA ss3986864358 Apr 26, 2021 (155)
15 TOPMED ss5109957635 Apr 26, 2021 (155)
16 TOPMED ss5109957636 Apr 26, 2021 (155)
17 1000Genomes NC_000022.10 - 39378323 Oct 12, 2018 (152)
18 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 570587006 (NC_000022.11:38982317:G:A 1661/137650)
Row 570587007 (NC_000022.11:38982317:G:T 2/137658)

- Apr 26, 2021 (155)
19 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 570587006 (NC_000022.11:38982317:G:A 1661/137650)
Row 570587007 (NC_000022.11:38982317:G:T 2/137658)

- Apr 26, 2021 (155)
20 Qatari NC_000022.10 - 39378323 Apr 27, 2020 (154)
21 SGDP_PRJ NC_000022.10 - 39378323 Apr 27, 2020 (154)
22 TopMed

Submission ignored due to conflicting rows:
Row 385066582 (NC_000022.11:38982317:G:A 3330/264690)
Row 385066583 (NC_000022.11:38982317:G:T 1/264690)

- Apr 26, 2021 (155)
23 TopMed

Submission ignored due to conflicting rows:
Row 385066582 (NC_000022.11:38982317:G:A 3330/264690)
Row 385066583 (NC_000022.11:38982317:G:T 1/264690)

- Apr 26, 2021 (155)
24 ALFA NC_000022.11 - 38982318 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
ss212123115, ss484314903 NC_000022.9:37708268:G:A NC_000022.11:38982317:G:A (self)
80804735, 20982351, 42609108, ss228689765, ss480741950, ss781306727, ss1367249547, ss1938940429, ss2414476174, ss2974626463, ss3890592128, ss3986864358 NC_000022.10:39378322:G:A NC_000022.11:38982317:G:A (self)
240535737, 8070317952, ss3377726356, ss3822571215, ss5109957635 NC_000022.11:38982317:G:A NC_000022.11:38982317:G:A (self)
8070317952, ss3377726357, ss5109957636 NC_000022.11:38982317:G:T NC_000022.11:38982317:G:T (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 rs78871147

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