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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.

rs8175164

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr21:13021007 (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
A>C / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.41128 (6893/16760, 8.3KJPN)
A=0.4880 (2797/5732, ALFA)
T=0.4022 (2014/5008, 1000G) (+ 3 more)
A=0.4494 (1307/2908, KOREAN)
A=0.358 (119/332, SGDP_PRJ)
T=0.213 (46/216, Qatari)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 21 NC_000021.9:g.13021007A>C
GRCh38.p13 chr 21 NC_000021.9:g.13021007A>T
GRCh37.p13 chr 21 NC_000021.8:g.14393328A>C
GRCh37.p13 chr 21 NC_000021.8:g.14393328A>T
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 5732 A=0.4880 C=0.0000, T=0.5120
European Sub 5190 A=0.5170 C=0.0000, T=0.4830
African Sub 522 A=0.192 C=0.000, T=0.808
African Others Sub 24 A=0.08 C=0.00, T=0.92
African American Sub 498 A=0.197 C=0.000, T=0.803
Asian Sub 2 A=1.0 C=0.0, T=0.0
East Asian Sub 0 A=0 C=0, T=0
Other Asian Sub 2 A=1.0 C=0.0, T=0.0
Latin American 1 Sub 0 A=0 C=0, T=0
Latin American 2 Sub 2 A=1.0 C=0.0, T=0.0
South Asian Sub 0 A=0 C=0, T=0
Other Sub 16 A=0.62 C=0.00, T=0.38


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
8.3KJPN JAPANESE Study-wide 16760 A=0.41128 T=0.58872
1000Genomes Global Study-wide 5008 A=0.5978 T=0.4022
1000Genomes African Sub 1322 A=0.2648 T=0.7352
1000Genomes East Asian Sub 1008 A=0.6052 T=0.3948
1000Genomes Europe Sub 1006 A=0.8062 T=0.1938
1000Genomes South Asian Sub 978 A=0.690 T=0.310
1000Genomes American Sub 694 A=0.790 T=0.210
KOREAN population from KRGDB KOREAN Study-wide 2908 A=0.4494 T=0.5506
SGDP_PRJ Global Study-wide 332 A=0.358 T=0.642
Qatari Global Study-wide 216 A=0.787 T=0.213
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 A= C T
GRCh38.p13 chr 21 NC_000021.9:g.13021007= NC_000021.9:g.13021007A>C NC_000021.9:g.13021007A>T
GRCh37.p13 chr 21 NC_000021.8:g.14393328= NC_000021.8:g.14393328A>C NC_000021.8:g.14393328A>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#.

17 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss3995634 Aug 25, 2003 (117)
2 ENSEMBL ss135656651 Dec 01, 2009 (131)
3 GMI ss475852737 May 04, 2012 (137)
4 1000GENOMES ss1365549187 Aug 21, 2014 (142)
5 DDI ss1429120831 Apr 01, 2015 (144)
6 WEILL_CORNELL_DGM ss1938466614 Feb 12, 2016 (147)
7 GRF ss2704318447 Nov 08, 2017 (151)
8 SWEGEN ss3018580245 Nov 08, 2017 (151)
9 TOPMED ss3366037515 Nov 08, 2017 (151)
10 URBANLAB ss3651071877 Oct 12, 2018 (152)
11 PACBIO ss3788708606 Jul 13, 2019 (153)
12 PACBIO ss3793589907 Jul 13, 2019 (153)
13 PACBIO ss3798476140 Jul 13, 2019 (153)
14 KHV_HUMAN_GENOMES ss3822037846 Jul 13, 2019 (153)
15 SGDP_PRJ ss3889593901 Apr 27, 2020 (154)
16 KRGDB ss3939993773 Apr 27, 2020 (154)
17 TOMMO_GENOMICS ss5230696267 Apr 26, 2021 (155)
18 1000Genomes NC_000021.8 - 14393328 Oct 12, 2018 (152)
19 KOREAN population from KRGDB NC_000021.8 - 14393328 Apr 27, 2020 (154)
20 Qatari NC_000021.8 - 14393328 Apr 27, 2020 (154)
21 SGDP_PRJ NC_000021.8 - 14393328 Apr 27, 2020 (154)
22 8.3KJPN NC_000021.8 - 14393328 Apr 26, 2021 (155)
23 ALFA NC_000021.9 - 13021007 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).

Associated ID History Updated (Build)
rs2821576 Mar 26, 2002 (103)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
13178964952 NC_000021.9:13021006:A:C NC_000021.9:13021006:A:C
ss475852737 NC_000021.7:13315198:A:T NC_000021.9:13021006:A:T (self)
79039151, 47171167, 20508536, 41610881, 88665574, ss1365549187, ss1429120831, ss1938466614, ss2704318447, ss3018580245, ss3788708606, ss3793589907, ss3798476140, ss3889593901, ss3939993773, ss5230696267 NC_000021.8:14393327:A:T NC_000021.9:13021006:A:T (self)
13178964952, ss3366037515, ss3651071877, ss3822037846 NC_000021.9:13021006:A:T NC_000021.9:13021006:A:T (self)
ss3995634, ss135656651 NT_011512.11:55198:A:T NC_000021.9:13021006:A: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 rs8175164

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