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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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr21:9313583 (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.

C>A / C>G
Variation Type
SNV Single Nucleotide Variation
G=0.42237 (7079/16760, 8.3KJPN)
G=0.09087 (1095/12050, ALFA)
G=0.3542 (1035/2922, KOREAN) (+ 3 more)
C=0.500 (157/314, SGDP_PRJ)
G=0.500 (157/314, SGDP_PRJ)
G=0.238 (51/214, Qatari)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
0 citations
Genomic View
See rs on genome

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.9313583C>A
GRCh38.p13 chr 21 NC_000021.9:g.9313583C>G
GRCh37.p13 chr 21 NC_000021.8:g.10152416C>A
GRCh37.p13 chr 21 NC_000021.8:g.10152416C>G

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 12050 C=0.90913 A=0.00000, G=0.09087
European Sub 8804 C=0.8760 A=0.0000, G=0.1240
African Sub 2514 C=1.0000 A=0.0000, G=0.0000
African Others Sub 102 C=1.000 A=0.000, G=0.000
African American Sub 2412 C=1.0000 A=0.0000, G=0.0000
Asian Sub 18 C=1.00 A=0.00, G=0.00
East Asian Sub 12 C=1.00 A=0.00, G=0.00
Other Asian Sub 6 C=1.0 A=0.0, G=0.0
Latin American 1 Sub 104 C=1.000 A=0.000, G=0.000
Latin American 2 Sub 274 C=1.000 A=0.000, G=0.000
South Asian Sub 32 C=1.00 A=0.00, G=0.00
Other Sub 304 C=0.990 A=0.000, G=0.010


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").

Study Population Group Sample Size Ref Allele Alt Allele
8.3KJPN JAPANESE Study-wide 16760 C=0.57763 G=0.42237
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.6458 G=0.3542
SGDP_PRJ Global Study-wide 314 C=0.500 G=0.500
Qatari Global Study-wide 214 C=0.762 G=0.238

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 G
GRCh38.p13 chr 21 NC_000021.9:g.9313583= NC_000021.9:g.9313583C>A NC_000021.9:g.9313583C>G
GRCh37.p13 chr 21 NC_000021.8:g.10152416= NC_000021.8:g.10152416C>A NC_000021.8:g.10152416C>G

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#.

11 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss19058880 Feb 27, 2004 (120)
2 HUMANGENOME_JCVI ss95791945 Feb 13, 2009 (147)
3 SSMP ss662264665 Apr 25, 2013 (138)
4 WEILL_CORNELL_DGM ss1938449000 Feb 12, 2016 (147)
5 GRF ss2704291370 Nov 08, 2017 (151)
6 SWEGEN ss3018521891 Nov 08, 2017 (151)
7 TOPMED ss3365614068 Nov 08, 2017 (151)
8 URBANLAB ss3651066005 Oct 12, 2018 (152)
9 SGDP_PRJ ss3889541539 Apr 27, 2020 (154)
10 KRGDB ss3939906295 Apr 27, 2020 (154)
11 TOMMO_GENOMICS ss5230571632 Apr 26, 2021 (155)
12 KOREAN population from KRGDB NC_000021.8 - 10152416 Apr 27, 2020 (154)
13 Qatari NC_000021.8 - 10152416 Apr 27, 2020 (154)
14 SGDP_PRJ NC_000021.8 - 10152416 Apr 27, 2020 (154)
15 8.3KJPN NC_000021.8 - 10152416 Apr 26, 2021 (155)
16 ALFA NC_000021.9 - 9313583 Apr 26, 2021 (155)

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)
rs71231123 Jul 19, 2016 (147)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
13006596560 NC_000021.9:9313582:C:A NC_000021.9:9313582:C:A
47083689, 20490922, 41558519, 88540939, ss662264665, ss1938449000, ss2704291370, ss3018521891, ss3889541539, ss3939906295, ss5230571632 NC_000021.8:10152415:C:G NC_000021.9:9313582:C:G (self)
13006596560, ss3365614068, ss3651066005 NC_000021.9:9313582:C:G NC_000021.9:9313582:C:G (self)
ss19058880, ss95791945 NT_113953.1:67495:C:G NC_000021.9:9313582:C:G (self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs10907430


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