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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
chr22:12200649 (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.

G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
A=0.000011 (3/264690, TOPMED)
A=0.000015 (2/134788, GnomAD)
A=0.000 (0/278, ALFA) (+ 2 more)
C=0.000 (0/278, ALFA)
T=0.000 (0/278, ALFA)
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.12200649G>A
GRCh38.p13 chr 22 NC_000022.11:g.12200649G>C
GRCh38.p13 chr 22 NC_000022.11:g.12200649G>T

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 278 G=1.000 A=0.000, C=0.000, T=0.000
European Sub 192 G=1.000 A=0.000, C=0.000, T=0.000
African Sub 58 G=1.00 A=0.00, C=0.00, T=0.00
African Others Sub 4 G=1.0 A=0.0, C=0.0, T=0.0
African American Sub 54 G=1.00 A=0.00, C=0.00, T=0.00
Asian Sub 2 G=1.0 A=0.0, C=0.0, T=0.0
East Asian Sub 0 G=0 A=0, C=0, T=0
Other Asian Sub 2 G=1.0 A=0.0, C=0.0, T=0.0
Latin American 1 Sub 4 G=1.0 A=0.0, C=0.0, T=0.0
Latin American 2 Sub 12 G=1.00 A=0.00, C=0.00, T=0.00
South Asian Sub 2 G=1.0 A=0.0, C=0.0, T=0.0
Other Sub 8 G=1.0 A=0.0, C=0.0, T=0.0


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
TopMed Global Study-wide 264690 G=0.999989 A=0.000011
gnomAD - Genomes Global Study-wide 134788 G=0.999985 A=0.000015
gnomAD - Genomes European Sub 73734 G=1.00000 A=0.00000
gnomAD - Genomes African Sub 39582 G=1.00000 A=0.00000
gnomAD - Genomes American Sub 13152 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3264 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3006 G=0.9993 A=0.0007
gnomAD - Genomes Other Sub 2050 G=1.0000 A=0.0000

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 G= A C T
GRCh38.p13 chr 22 NC_000022.11:g.12200649= NC_000022.11:g.12200649G>A NC_000022.11:g.12200649G>C NC_000022.11:g.12200649G>T

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, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss13633451 Dec 05, 2003 (119)
2 WUGSC_SSAHASNP ss13811524 Dec 05, 2003 (126)
3 SC_SNP ss14754074 Dec 05, 2003 (126)
4 SC_SNP ss18057486 Jul 19, 2016 (147)
5 SC_SNP ss18062693 Jul 19, 2016 (147)
6 SC_SNP ss18077430 Feb 27, 2004 (126)
7 SC_SNP ss18251073 Feb 27, 2004 (126)
8 SC_SNP ss18317719 Jul 19, 2016 (147)
9 SC_SNP ss18323209 Jul 19, 2016 (147)
10 SC_SNP ss18404836 Feb 27, 2004 (126)
11 SC_SNP ss19058867 Jul 19, 2016 (147)
12 CSHL-HAPMAP ss19103982 Feb 27, 2004 (126)
13 TOPMED ss3372889960 Nov 08, 2017 (151)
14 TOPMED ss3372889961 Nov 08, 2017 (151)
15 GNOMAD ss4361774303 Apr 26, 2021 (155)
16 TOPMED ss5104021160 Apr 26, 2021 (155)
17 gnomAD - Genomes NC_000022.11 - 12200649 Apr 26, 2021 (155)
18 TopMed NC_000022.11 - 12200649 Apr 26, 2021 (155)
19 ALFA NC_000022.11 - 12200649 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)
rs9970272 Mar 10, 2006 (126)
rs10437255 Mar 10, 2006 (126)
rs10732203 Mar 10, 2006 (126)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
565423930, 379130107, 14552669214, ss3372889960, ss4361774303, ss5104021160 NC_000022.11:12200648:G:A NC_000022.11:12200648:G:A (self)
14552669214 NC_000022.11:12200648:G:C NC_000022.11:12200648:G:C
14552669214, ss3372889961 NC_000022.11:12200648:G:T NC_000022.11:12200648:G:T (self)
ss13633451, ss13811524, ss14754074, ss18077430, ss18251073, ss18404836, ss19103982 NT_077988.2:13797:C:A NC_000022.11:12200648:G:T (self)
ss18057486, ss18062693, ss18317719, ss18323209, ss19058867 NT_187337.1:173093:G:T NC_000022.11:12200648:G:T (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 rs9803779


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