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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.

rs8179466

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:264562 (GRCh38.p14) 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
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.086078 (9946/115546, GnomAD)
T=0.31513 (8905/28258, 14KJPN)
T=0.33443 (5605/16760, 8.3KJPN) (+ 7 more)
T=0.12340 (2061/16702, ALFA)
T=0.1857 (1189/6404, 1000G_30x)
T=0.3330 (973/2922, KOREAN)
T=0.3095 (567/1832, Korea1K)
T=0.007 (4/534, MGP)
C=0.500 (96/192, SGDP_PRJ)
T=0.500 (96/192, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome

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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 16702 C=0.87660 T=0.12340
European Sub 12214 C=0.85680 T=0.14320
African Sub 2864 C=0.9595 T=0.0405
African Others Sub 108 C=0.981 T=0.019
African American Sub 2756 C=0.9586 T=0.0414
Asian Sub 108 C=0.769 T=0.231
East Asian Sub 84 C=0.79 T=0.21
Other Asian Sub 24 C=0.71 T=0.29
Latin American 1 Sub 146 C=0.884 T=0.116
Latin American 2 Sub 610 C=0.856 T=0.144
South Asian Sub 94 C=0.89 T=0.11
Other Sub 666 C=0.916 T=0.084


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
gnomAD - Genomes Global Study-wide 115546 C=0.913922 T=0.086078
gnomAD - Genomes European Sub 60262 C=0.88917 T=0.11083
gnomAD - Genomes African Sub 37894 C=0.96918 T=0.03082
gnomAD - Genomes American Sub 10690 C=0.88316 T=0.11684
gnomAD - Genomes Ashkenazi Jewish Sub 2832 C=0.8997 T=0.1003
gnomAD - Genomes East Asian Sub 2150 C=0.8149 T=0.1851
gnomAD - Genomes Other Sub 1718 C=0.9022 T=0.0978
14KJPN JAPANESE Study-wide 28258 C=0.68487 T=0.31513
8.3KJPN JAPANESE Study-wide 16760 C=0.66557 T=0.33443
Allele Frequency Aggregator Total Global 16702 C=0.87660 T=0.12340
Allele Frequency Aggregator European Sub 12214 C=0.85680 T=0.14320
Allele Frequency Aggregator African Sub 2864 C=0.9595 T=0.0405
Allele Frequency Aggregator Other Sub 666 C=0.916 T=0.084
Allele Frequency Aggregator Latin American 2 Sub 610 C=0.856 T=0.144
Allele Frequency Aggregator Latin American 1 Sub 146 C=0.884 T=0.116
Allele Frequency Aggregator Asian Sub 108 C=0.769 T=0.231
Allele Frequency Aggregator South Asian Sub 94 C=0.89 T=0.11
1000Genomes_30x Global Study-wide 6404 C=0.8143 T=0.1857
1000Genomes_30x African Sub 1786 C=0.9434 T=0.0566
1000Genomes_30x Europe Sub 1266 C=0.8207 T=0.1793
1000Genomes_30x South Asian Sub 1202 C=0.7646 T=0.2354
1000Genomes_30x East Asian Sub 1170 C=0.6838 T=0.3162
1000Genomes_30x American Sub 980 C=0.788 T=0.212
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.6667 A=0.0003, T=0.3330
Korean Genome Project KOREAN Study-wide 1832 C=0.6905 T=0.3095
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.993 T=0.007
SGDP_PRJ Global Study-wide 192 C=0.500 T=0.500
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.p14 chr 1 NC_000001.11:g.264562C>A
GRCh38.p14 chr 1 NC_000001.11:g.264562C>T
GRCh37.p13 chr 1 NC_000001.10:g.234313C>A
GRCh37.p13 chr 1 NC_000001.10:g.234313C>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
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 C= A T
GRCh38.p14 chr 1 NC_000001.11:g.264562= NC_000001.11:g.264562C>A NC_000001.11:g.264562C>T
GRCh37.p13 chr 1 NC_000001.10:g.234313= NC_000001.10:g.234313C>A NC_000001.10:g.234313C>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#.

37 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss12568995 Aug 27, 2003 (117)
2 SC_SNP ss14768408 Dec 05, 2003 (120)
3 ILLUMINA ss75311483 Dec 07, 2007 (142)
4 ILLUMINA ss123419854 Dec 01, 2009 (142)
5 ILLUMINA ss154471281 Dec 01, 2009 (142)
6 ILLUMINA ss160953860 Dec 01, 2009 (142)
7 ILLUMINA ss172403567 Jul 04, 2010 (142)
8 ILLUMINA ss174734199 Jul 04, 2010 (142)
9 BUSHMAN ss197885251 Jul 04, 2010 (132)
10 GMI ss475579495 May 04, 2012 (142)
11 ILLUMINA ss482790213 Sep 08, 2015 (146)
12 ILLUMINA ss537560425 Sep 08, 2015 (146)
13 SSMP ss647515187 Apr 25, 2013 (142)
14 ILLUMINA ss825673551 Apr 01, 2015 (144)
15 EVA_MGP ss1710883295 Apr 01, 2015 (144)
16 GENOMED ss1966667286 Jul 19, 2016 (147)
17 JJLAB ss2019497843 Sep 14, 2016 (149)
18 GRF ss2697373378 Nov 08, 2017 (151)
19 GNOMAD ss2750614007 Nov 08, 2017 (151)
20 SWEGEN ss2986143991 Nov 08, 2017 (151)
21 ILLUMINA ss3626006461 Oct 11, 2018 (152)
22 ILLUMINA ss3635978568 Oct 11, 2018 (152)
23 ILLUMINA ss3637732344 Oct 11, 2018 (152)
24 ILLUMINA ss3642746622 Oct 11, 2018 (152)
25 OMUKHERJEE_ADBS ss3646218375 Oct 11, 2018 (152)
26 SGDP_PRJ ss3847987174 Apr 25, 2020 (154)
27 KRGDB ss3892827110 Apr 25, 2020 (154)
28 KOGIC ss3943624787 Apr 25, 2020 (154)
29 TOMMO_GENOMICS ss5142039033 Apr 25, 2021 (155)
30 1000G_HIGH_COVERAGE ss5240857870 Oct 12, 2022 (156)
31 EVA ss5316174798 Oct 12, 2022 (156)
32 1000G_HIGH_COVERAGE ss5512479948 Oct 12, 2022 (156)
33 TOMMO_GENOMICS ss5666174599 Oct 12, 2022 (156)
34 YY_MCH ss5800241581 Oct 12, 2022 (156)
35 EVA ss5831417037 Oct 12, 2022 (156)
36 EVA ss5848748778 Oct 12, 2022 (156)
37 EVA ss5979259099 Oct 12, 2022 (156)
38 1000Genomes_30x NC_000001.11 - 264562 Oct 12, 2022 (156)
39 gnomAD - Genomes NC_000001.11 - 264562 Apr 25, 2021 (155)
40 KOREAN population from KRGDB NC_000001.10 - 234313 Apr 25, 2020 (154)
41 Korean Genome Project NC_000001.11 - 264562 Apr 25, 2020 (154)
42 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 234313 Apr 25, 2020 (154)
43 SGDP_PRJ NC_000001.10 - 234313 Apr 25, 2020 (154)
44 8.3KJPN NC_000001.10 - 234313 Apr 25, 2021 (155)
45 14KJPN NC_000001.11 - 264562 Oct 12, 2022 (156)
46 ALFA NC_000001.11 - 264562 Apr 25, 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)
rs10443382 Feb 27, 2004 (120)
rs56055731 Aug 21, 2014 (142)
rs386616069 Jul 01, 2015 (144)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
4504, ss3892827110 NC_000001.10:234312:C:A NC_000001.11:264561:C:A (self)
ss197885251, ss475579495, ss825673551, ss3642746622 NC_000001.9:224175:C:T NC_000001.11:264561:C:T (self)
4504, 47, 4154, 8340, ss482790213, ss537560425, ss647515187, ss1710883295, ss1966667286, ss2019497843, ss2697373378, ss2750614007, ss2986143991, ss3626006461, ss3635978568, ss3637732344, ss3646218375, ss3847987174, ss3892827110, ss5142039033, ss5316174798, ss5831417037, ss5979259099 NC_000001.10:234312:C:T NC_000001.11:264561:C:T (self)
5883, 24368, 2788, 11703, 4938155952, ss3943624787, ss5240857870, ss5512479948, ss5666174599, ss5800241581, ss5848748778 NC_000001.11:264561:C:T NC_000001.11:264561:C:T (self)
ss12568995, ss14768408, ss75311483, ss123419854, ss154471281, ss160953860, ss172403567, ss174734199 NT_077402.2:224312:C:T NC_000001.11:264561:C: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 rs8179466

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.post761+d5e8e07