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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.

rs534769748

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:18223678 (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
C>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000507 (71/139940, GnomAD)
A=0.02495 (705/28258, 14KJPN)
A=0.02470 (414/16760, 8.3KJPN) (+ 6 more)
A=0.00061 (10/16332, ALFA)
A=0.0022 (14/6404, 1000G_30x)
A=0.0018 (9/5008, 1000G)
A=0.0178 (52/2922, KOREAN)
C=0.5 (1/2, SGDP_PRJ)
A=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 16332 C=0.99939 A=0.00061
European Sub 12080 C=0.99950 A=0.00050
African Sub 2816 C=1.0000 A=0.0000
African Others Sub 108 C=1.000 A=0.000
African American Sub 2708 C=1.0000 A=0.0000
Asian Sub 108 C=0.981 A=0.019
East Asian Sub 84 C=0.98 A=0.02
Other Asian Sub 24 C=1.00 A=0.00
Latin American 1 Sub 146 C=1.000 A=0.000
Latin American 2 Sub 610 C=1.000 A=0.000
South Asian Sub 94 C=1.00 A=0.00
Other Sub 478 C=0.996 A=0.004


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 139940 C=0.999493 A=0.000507
gnomAD - Genomes European Sub 75860 C=0.99937 A=0.00063
gnomAD - Genomes African Sub 41988 C=1.00000 A=0.00000
gnomAD - Genomes American Sub 13532 C=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3318 C=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3096 C=0.9929 A=0.0071
gnomAD - Genomes Other Sub 2146 C=0.9995 A=0.0005
14KJPN JAPANESE Study-wide 28258 C=0.97505 A=0.02495
8.3KJPN JAPANESE Study-wide 16760 C=0.97530 A=0.02470
Allele Frequency Aggregator Total Global 16332 C=0.99939 A=0.00061
Allele Frequency Aggregator European Sub 12080 C=0.99950 A=0.00050
Allele Frequency Aggregator African Sub 2816 C=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 A=0.000
Allele Frequency Aggregator Other Sub 478 C=0.996 A=0.004
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 108 C=0.981 A=0.019
Allele Frequency Aggregator South Asian Sub 94 C=1.00 A=0.00
1000Genomes_30x Global Study-wide 6404 C=0.9978 A=0.0022
1000Genomes_30x African Sub 1786 C=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 C=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 C=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 C=0.9880 A=0.0120
1000Genomes_30x American Sub 980 C=1.000 A=0.000
1000Genomes Global Study-wide 5008 C=0.9982 A=0.0018
1000Genomes African Sub 1322 C=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 C=0.9911 A=0.0089
1000Genomes Europe Sub 1006 C=1.0000 A=0.0000
1000Genomes South Asian Sub 978 C=1.000 A=0.000
1000Genomes American Sub 694 C=1.000 A=0.000
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9822 A=0.0178
SGDP_PRJ Global Study-wide 2 C=0.5 A=0.5
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 14 NC_000014.9:g.18223678C>A
GRCh37.p13 chr 14 NC_000014.8:g.19000155C>A
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 C= A
GRCh38.p14 chr 14 NC_000014.9:g.18223678= NC_000014.9:g.18223678C>A
GRCh37.p13 chr 14 NC_000014.8:g.19000155= NC_000014.8:g.19000155C>A
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 ss1350054315 Aug 21, 2014 (142)
2 HUMAN_LONGEVITY ss2200091826 Dec 20, 2016 (150)
3 GRF ss2700680124 Nov 08, 2017 (151)
4 GNOMAD ss2924864097 Nov 08, 2017 (151)
5 SWEGEN ss3011777594 Nov 08, 2017 (151)
6 EVA ss3752035929 Jul 13, 2019 (153)
7 KHV_HUMAN_GENOMES ss3817367635 Jul 13, 2019 (153)
8 SGDP_PRJ ss3880965821 Apr 27, 2020 (154)
9 KRGDB ss3929912678 Apr 27, 2020 (154)
10 TOMMO_GENOMICS ss5212085897 Apr 27, 2021 (155)
11 1000G_HIGH_COVERAGE ss5295354040 Oct 16, 2022 (156)
12 EVA ss5413721127 Oct 16, 2022 (156)
13 1000G_HIGH_COVERAGE ss5595184576 Oct 16, 2022 (156)
14 SANFORD_IMAGENETICS ss5655713479 Oct 16, 2022 (156)
15 TOMMO_GENOMICS ss5764567206 Oct 16, 2022 (156)
16 YY_MCH ss5814530326 Oct 16, 2022 (156)
17 1000Genomes NC_000014.8 - 19000155 Oct 12, 2018 (152)
18 1000Genomes_30x NC_000014.9 - 18223678 Oct 16, 2022 (156)
19 gnomAD - Genomes NC_000014.9 - 18223678 Apr 27, 2021 (155)
20 KOREAN population from KRGDB NC_000014.8 - 19000155 Apr 27, 2020 (154)
21 SGDP_PRJ NC_000014.8 - 19000155 Apr 27, 2020 (154)
22 8.3KJPN NC_000014.8 - 19000155 Apr 27, 2021 (155)
23 14KJPN NC_000014.9 - 18223678 Oct 16, 2022 (156)
24 ALFA NC_000014.9 - 18223678 Apr 27, 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
62998459, 37090072, 32982801, 70055204, ss1350054315, ss2700680124, ss2924864097, ss3011777594, ss3752035929, ss3880965821, ss3929912678, ss5212085897, ss5413721127, ss5655713479 NC_000014.8:19000154:C:A NC_000014.9:18223677:C:A (self)
82710511, 444152834, 98404310, 11273903605, ss2200091826, ss3817367635, ss5295354040, ss5595184576, ss5764567206, ss5814530326 NC_000014.9:18223677:C:A NC_000014.9:18223677:C:A (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 rs534769748

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.post761+d5e8e07