Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs9314916

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr13:28637618 (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>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.22142 (3711/16760, 8.3KJPN)
C=0.0000 (0/6010, ALFA)
G=0.0000 (0/6010, ALFA) (+ 9 more)
T=0.0000 (0/6010, ALFA)
T=0.3025 (1515/5008, 1000G)
T=0.2371 (1030/4344, Estonian)
T=0.2893 (847/2928, KOREAN)
T=0.229 (229/998, GoNL)
T=0.222 (133/600, NorthernSweden)
A=0.398 (132/332, SGDP_PRJ)
T=0.444 (96/216, Qatari)
A=0.46 (11/24, Siberian)
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 13 NC_000013.11:g.28637618A>C
GRCh38.p13 chr 13 NC_000013.11:g.28637618A>G
GRCh38.p13 chr 13 NC_000013.11:g.28637618A>T
GRCh37.p13 chr 13 NC_000013.10:g.29211755A>C
GRCh37.p13 chr 13 NC_000013.10:g.29211755A>G
GRCh37.p13 chr 13 NC_000013.10:g.29211755A>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 6010 A=1.0000 C=0.0000, G=0.0000, T=0.0000
European Sub 4524 A=1.0000 C=0.0000, G=0.0000, T=0.0000
African Sub 676 A=1.000 C=0.000, G=0.000, T=0.000
African Others Sub 14 A=1.00 C=0.00, G=0.00, T=0.00
African American Sub 662 A=1.000 C=0.000, G=0.000, T=0.000
Asian Sub 74 A=1.00 C=0.00, G=0.00, T=0.00
East Asian Sub 62 A=1.00 C=0.00, G=0.00, T=0.00
Other Asian Sub 12 A=1.00 C=0.00, G=0.00, T=0.00
Latin American 1 Sub 88 A=1.00 C=0.00, G=0.00, T=0.00
Latin American 2 Sub 364 A=1.000 C=0.000, G=0.000, T=0.000
South Asian Sub 54 A=1.00 C=0.00, G=0.00, T=0.00
Other Sub 230 A=1.000 C=0.000, G=0.000, 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
8.3KJPN JAPANESE Study-wide 16760 A=0.77858 T=0.22142
1000Genomes Global Study-wide 5008 A=0.6975 T=0.3025
1000Genomes African Sub 1322 A=0.4697 T=0.5303
1000Genomes East Asian Sub 1008 A=0.8284 T=0.1716
1000Genomes Europe Sub 1006 A=0.7942 T=0.2058
1000Genomes South Asian Sub 978 A=0.686 T=0.314
1000Genomes American Sub 694 A=0.817 T=0.183
Genetic variation in the Estonian population Estonian Study-wide 4344 A=0.7629 T=0.2371
KOREAN population from KRGDB KOREAN Study-wide 2928 A=0.7107 T=0.2893
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.771 T=0.229
Northern Sweden ACPOP Study-wide 600 A=0.778 T=0.222
SGDP_PRJ Global Study-wide 332 A=0.398 T=0.602
Qatari Global Study-wide 216 A=0.556 T=0.444
Siberian Global Study-wide 24 A=0.46 T=0.54
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 G T
GRCh38.p13 chr 13 NC_000013.11:g.28637618= NC_000013.11:g.28637618A>C NC_000013.11:g.28637618A>G NC_000013.11:g.28637618A>T
GRCh37.p13 chr 13 NC_000013.10:g.29211755= NC_000013.10:g.29211755A>C NC_000013.10:g.29211755A>G NC_000013.10:g.29211755A>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#.

29 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss13254280 Dec 05, 2003 (119)
2 WUGSC_SSAHASNP ss13813600 Dec 05, 2003 (119)
3 HGSV ss82879476 Dec 15, 2007 (130)
4 BCMHGSC_JDW ss89558970 Mar 24, 2008 (129)
5 ILLUMINA-UK ss118401726 Dec 01, 2009 (131)
6 ENSEMBL ss133504521 Dec 01, 2009 (131)
7 BUSHMAN ss199013432 Jul 04, 2010 (132)
8 BL ss254885535 May 09, 2011 (134)
9 GMI ss281653122 May 04, 2012 (137)
10 GMI ss286675334 Apr 25, 2013 (138)
11 PJP ss291564885 May 09, 2011 (134)
12 EVA-GONL ss990228525 Aug 21, 2014 (142)
13 1000GENOMES ss1347620186 Aug 21, 2014 (142)
14 DDI ss1427140566 Apr 01, 2015 (144)
15 WEILL_CORNELL_DGM ss1933597515 Feb 12, 2016 (147)
16 USC_VALOUEV ss2155919163 Dec 20, 2016 (150)
17 HUMAN_LONGEVITY ss2195103530 Dec 20, 2016 (150)
18 GRF ss2700291326 Nov 08, 2017 (151)
19 BIOINF_KMB_FNS_UNIBA ss3027592764 Nov 08, 2017 (151)
20 TOPMED ss3188785113 Nov 08, 2017 (151)
21 TOPMED ss3188785114 Nov 08, 2017 (151)
22 CSHL ss3350382032 Nov 08, 2017 (151)
23 EGCUT_WGS ss3678035232 Jul 13, 2019 (153)
24 ACPOP ss3739612618 Jul 13, 2019 (153)
25 KHV_HUMAN_GENOMES ss3816607031 Jul 13, 2019 (153)
26 EVA ss3833467008 Apr 27, 2020 (154)
27 SGDP_PRJ ss3879661091 Apr 27, 2020 (154)
28 KRGDB ss3928482555 Apr 27, 2020 (154)
29 TOMMO_GENOMICS ss5209317272 Apr 26, 2021 (155)
30 1000Genomes NC_000013.10 - 29211755 Oct 12, 2018 (152)
31 Genetic variation in the Estonian population NC_000013.10 - 29211755 Oct 12, 2018 (152)
32 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 426389406 (NC_000013.11:28637617:A:G 3/118132)
Row 426389407 (NC_000013.11:28637617:A:T 40498/117882)

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

Submission ignored due to conflicting rows:
Row 426389406 (NC_000013.11:28637617:A:G 3/118132)
Row 426389407 (NC_000013.11:28637617:A:T 40498/117882)

- Apr 26, 2021 (155)
34 Genome of the Netherlands Release 5 NC_000013.10 - 29211755 Apr 27, 2020 (154)
35 KOREAN population from KRGDB NC_000013.10 - 29211755 Apr 27, 2020 (154)
36 Northern Sweden NC_000013.10 - 29211755 Jul 13, 2019 (153)
37 Qatari NC_000013.10 - 29211755 Apr 27, 2020 (154)
38 SGDP_PRJ NC_000013.10 - 29211755 Apr 27, 2020 (154)
39 Siberian NC_000013.10 - 29211755 Apr 27, 2020 (154)
40 8.3KJPN NC_000013.10 - 29211755 Apr 26, 2021 (155)
41 ALFA NC_000013.11 - 28637618 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)
rs58321702 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
5737854806 NC_000013.11:28637617:A:C NC_000013.11:28637617:A:C
5737854806, ss3188785113 NC_000013.11:28637617:A:G NC_000013.11:28637617:A:G (self)
ss82879476, ss89558970, ss118401726, ss199013432, ss254885535, ss281653122, ss286675334, ss291564885 NC_000013.9:28109754:A:T NC_000013.11:28637617:A:T (self)
60468623, 23773480, 14984993, 35659949, 12897483, 15639445, 31678071, 8435517, 67286579, ss990228525, ss1347620186, ss1427140566, ss1933597515, ss2155919163, ss2700291326, ss3350382032, ss3678035232, ss3739612618, ss3833467008, ss3879661091, ss3928482555, ss5209317272 NC_000013.10:29211754:A:T NC_000013.11:28637617:A:T (self)
5737854806, ss2195103530, ss3027592764, ss3188785114, ss3816607031 NC_000013.11:28637617:A:T NC_000013.11:28637617:A:T (self)
ss13254280 NT_009799.12:10191754:A:T NC_000013.11:28637617:A:T (self)
ss13813600 NT_024524.13:10191754:A:T NC_000013.11:28637617:A:T (self)
ss133504521 NT_024524.14:10191754:A:T NC_000013.11:28637617:A:T (self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
NC_000013.10:29211754:A:G NC_000013.11:28637617:A:G
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 rs9314916

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