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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
chr22:12176840 (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.

T>A / T>G
Variation Type
SNV Single Nucleotide Variation
G=0.00051 (6/11832, ALFA)
G=0.0016 (3/1832, Korea1K)
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 22 NC_000022.11:g.12176840T>A
GRCh38.p13 chr 22 NC_000022.11:g.12176840T>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 11832 T=0.99949 A=0.00000, G=0.00051
European Sub 7616 T=1.0000 A=0.0000, G=0.0000
African Sub 2788 T=0.9996 A=0.0000, G=0.0004
African Others Sub 106 T=1.000 A=0.000, G=0.000
African American Sub 2682 T=0.9996 A=0.0000, G=0.0004
Asian Sub 108 T=1.000 A=0.000, G=0.000
East Asian Sub 84 T=1.00 A=0.00, G=0.00
Other Asian Sub 24 T=1.00 A=0.00, G=0.00
Latin American 1 Sub 146 T=1.000 A=0.000, G=0.000
Latin American 2 Sub 610 T=0.992 A=0.000, G=0.008
South Asian Sub 94 T=1.00 A=0.00, G=0.00
Other Sub 470 T=1.000 A=0.000, G=0.000


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
Korean Genome Project KOREAN Study-wide 1832 T=0.9984 G=0.0016

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 T= A G
GRCh38.p13 chr 22 NC_000022.11:g.12176840= NC_000022.11:g.12176840T>A NC_000022.11:g.12176840T>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#.

15 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss13503756 Dec 05, 2003 (119)
2 BCM_SSAHASNP ss13538722 Dec 05, 2003 (123)
3 WI_SSAHASNP ss13620896 Dec 05, 2003 (123)
4 WUGSC_SSAHASNP ss13811877 Dec 05, 2003 (123)
5 SC_SNP ss15867036 Feb 27, 2004 (142)
6 CSHL-HAPMAP ss16404255 Feb 27, 2004 (142)
7 CSHL-HAPMAP ss17338246 Feb 27, 2004 (142)
8 SC_SNP ss18156031 Feb 27, 2004 (142)
9 SC_SNP ss18405041 Feb 27, 2004 (142)
10 SC_SNP ss18858487 Feb 27, 2004 (142)
11 SC_SNP ss19068726 Feb 27, 2004 (142)
12 CSHL-HAPMAP ss19110660 Feb 27, 2004 (142)
13 CSHL-HAPMAP ss19840859 Feb 27, 2004 (142)
14 TOPMED ss3372880249 Nov 08, 2017 (151)
15 KOGIC ss3983279775 Apr 27, 2020 (154)
16 Korean Genome Project NC_000022.11 - 12176840 Apr 27, 2020 (154)
17 ALFA NC_000022.11 - 12176840 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)
rs9727807 Sep 24, 2004 (123)
rs9793403 Sep 24, 2004 (123)
rs9970505 Sep 24, 2004 (123)
rs10732184 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
10257322550 NC_000022.11:12176839:T:A NC_000022.11:12176839:T:A
39657776, 10257322550, ss3372880249, ss3983279775 NC_000022.11:12176839:T:G NC_000022.11:12176839:T:G (self)
ss13503756, ss13538722, ss13620896, ss13811877, ss15867036, ss16404255, ss17338246, ss18156031, ss18405041, ss18858487, ss19068726, ss19110660, ss19840859 NT_077988.2:37609:A:C NC_000022.11:12176839:T: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 rs9700771


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