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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs226683

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:24793295 (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
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.227085 (60107/264690, TOPMED)
A=0.248955 (34770/139664, GnomAD)
A=0.00018 (5/28256, 14KJPN) (+ 17 more)
A=0.00024 (4/16758, 8.3KJPN)
A=0.1504 (963/6404, 1000G_30x)
G=0.4779 (2918/6106, ALFA)
A=0.1492 (747/5008, 1000G)
A=0.4080 (1828/4480, Estonian)
A=0.3633 (1400/3854, ALSPAC)
A=0.3528 (1308/3708, TWINSUK)
A=0.0003 (1/2930, KOREAN)
A=0.0000 (0/1832, Korea1K)
A=0.354 (353/998, GoNL)
A=0.435 (261/600, NorthernSweden)
G=0.002 (1/534, MGP)
A=0.129 (69/534, SGDP_PRJ)
A=0.167 (36/216, Qatari)
A=0.009 (2/212, Vietnamese)
A=0.26 (13/50, Siberian)
A=0.30 (12/40, GENOME_DK)
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 6106 A=0.5221 G=0.4779, T=0.0000
European Sub 5798 A=0.5279 G=0.4721, T=0.0000
African Sub 66 A=0.41 G=0.59, T=0.00
African Others Sub 0 A=0 G=0, T=0
African American Sub 66 A=0.41 G=0.59, T=0.00
Asian Sub 0 A=0 G=0, T=0
East Asian Sub 0 A=0 G=0, T=0
Other Asian Sub 0 A=0 G=0, T=0
Latin American 1 Sub 4 A=1.0 G=0.0, T=0.0
Latin American 2 Sub 16 A=1.00 G=0.00, T=0.00
South Asian Sub 6 A=1.0 G=0.0, T=0.0
Other Sub 216 A=0.343 G=0.657, 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
TopMed Global Study-wide 264690 A=0.227085 G=0.772915
gnomAD - Genomes Global Study-wide 139664 A=0.248955 G=0.751045
gnomAD - Genomes European Sub 75674 A=0.34883 G=0.65117
gnomAD - Genomes African Sub 41810 A=0.08866 G=0.91134
gnomAD - Genomes American Sub 13592 A=0.20387 G=0.79613
gnomAD - Genomes Ashkenazi Jewish Sub 3314 A=0.4149 G=0.5851
gnomAD - Genomes East Asian Sub 3126 A=0.0019 G=0.9981
gnomAD - Genomes Other Sub 2148 A=0.2393 G=0.7607
14KJPN JAPANESE Study-wide 28256 A=0.00018 G=0.99982
8.3KJPN JAPANESE Study-wide 16758 A=0.00024 G=0.99976
1000Genomes_30x Global Study-wide 6404 A=0.1504 G=0.8496
1000Genomes_30x African Sub 1786 A=0.0459 G=0.9541
1000Genomes_30x Europe Sub 1266 A=0.3215 G=0.6785
1000Genomes_30x South Asian Sub 1202 A=0.2196 G=0.7804
1000Genomes_30x East Asian Sub 1170 A=0.0060 G=0.9940
1000Genomes_30x American Sub 980 A=0.207 G=0.793
Allele Frequency Aggregator Total Global 6106 A=0.5221 G=0.4779, T=0.0000
Allele Frequency Aggregator European Sub 5798 A=0.5279 G=0.4721, T=0.0000
Allele Frequency Aggregator Other Sub 216 A=0.343 G=0.657, T=0.000
Allele Frequency Aggregator African Sub 66 A=0.41 G=0.59, T=0.00
Allele Frequency Aggregator Latin American 2 Sub 16 A=1.00 G=0.00, T=0.00
Allele Frequency Aggregator South Asian Sub 6 A=1.0 G=0.0, T=0.0
Allele Frequency Aggregator Latin American 1 Sub 4 A=1.0 G=0.0, T=0.0
Allele Frequency Aggregator Asian Sub 0 A=0 G=0, T=0
1000Genomes Global Study-wide 5008 A=0.1492 G=0.8508
1000Genomes African Sub 1322 A=0.0477 G=0.9523
1000Genomes East Asian Sub 1008 A=0.0050 G=0.9950
1000Genomes Europe Sub 1006 A=0.3250 G=0.6750
1000Genomes South Asian Sub 978 A=0.219 G=0.781
1000Genomes American Sub 694 A=0.199 G=0.801
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.4080 G=0.5920
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.3633 G=0.6367
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.3528 G=0.6472
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.0003 G=0.9997, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 A=0.0000 G=1.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.354 G=0.646
Northern Sweden ACPOP Study-wide 600 A=0.435 G=0.565
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.998 G=0.002
SGDP_PRJ Global Study-wide 534 A=0.129 G=0.871
Qatari Global Study-wide 216 A=0.167 G=0.833
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.009 G=0.991
Siberian Global Study-wide 50 A=0.26 G=0.74
The Danish reference pan genome Danish Study-wide 40 A=0.30 G=0.70
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 20 NC_000020.11:g.24793295A>G
GRCh38.p14 chr 20 NC_000020.11:g.24793295A>T
GRCh37.p13 chr 20 NC_000020.10:g.24773931A>G
GRCh37.p13 chr 20 NC_000020.10:g.24773931A>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 A= G T
GRCh38.p14 chr 20 NC_000020.11:g.24793295= NC_000020.11:g.24793295A>G NC_000020.11:g.24793295A>T
GRCh37.p13 chr 20 NC_000020.10:g.24773931= NC_000020.10:g.24773931A>G NC_000020.10:g.24773931A>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#.

80 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss293668 Jul 12, 2000 (79)
2 KWOK ss1252584 Oct 04, 2000 (86)
3 KWOK ss2054970 Oct 18, 2000 (87)
4 SC_JCM ss3395609 Sep 28, 2001 (100)
5 SC_SNP ss8362001 Apr 21, 2003 (114)
6 CSHL-HAPMAP ss19479822 Feb 27, 2004 (120)
7 SSAHASNP ss21758223 Apr 05, 2004 (121)
8 HGSV ss78267961 Dec 06, 2007 (129)
9 HGSV ss81388701 Dec 15, 2007 (130)
10 HGSV ss82535069 Dec 15, 2007 (130)
11 BCMHGSC_JDW ss91674594 Mar 24, 2008 (129)
12 HUMANGENOME_JCVI ss96192510 Feb 06, 2009 (130)
13 BGI ss106184988 Feb 06, 2009 (130)
14 1000GENOMES ss111897421 Jan 25, 2009 (130)
15 1000GENOMES ss113233196 Jan 25, 2009 (130)
16 IGMI-SNU ss115467153 Feb 06, 2009 (130)
17 ILLUMINA-UK ss117522799 Feb 14, 2009 (130)
18 ENSEMBL ss135736307 Dec 01, 2009 (131)
19 GMI ss156295653 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss168026337 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss169402023 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss172024191 Jul 04, 2010 (132)
23 BUSHMAN ss203864091 Jul 04, 2010 (132)
24 BCM-HGSC-SUB ss208726156 Jul 04, 2010 (132)
25 1000GENOMES ss228317299 Jul 14, 2010 (132)
26 1000GENOMES ss237806588 Jul 15, 2010 (132)
27 1000GENOMES ss243984330 Jul 15, 2010 (132)
28 GMI ss283342226 May 04, 2012 (137)
29 GMI ss287441584 Apr 25, 2013 (138)
30 PJP ss292635650 May 09, 2011 (134)
31 TISHKOFF ss566206854 Apr 25, 2013 (138)
32 SSMP ss662080313 Apr 25, 2013 (138)
33 EVA-GONL ss994654056 Aug 21, 2014 (142)
34 JMKIDD_LAB ss1082158183 Aug 21, 2014 (142)
35 1000GENOMES ss1364490516 Aug 21, 2014 (142)
36 DDI ss1429029086 Apr 01, 2015 (144)
37 EVA_GENOME_DK ss1579482795 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1638642519 Apr 01, 2015 (144)
39 EVA_UK10K_TWINSUK ss1681636552 Apr 01, 2015 (144)
40 EVA_MGP ss1711536019 Apr 01, 2015 (144)
41 HAMMER_LAB ss1809472369 Sep 08, 2015 (146)
42 WEILL_CORNELL_DGM ss1938161265 Feb 12, 2016 (147)
43 GENOMED ss1969118466 Jul 19, 2016 (147)
44 JJLAB ss2029865823 Sep 14, 2016 (149)
45 USC_VALOUEV ss2158418174 Dec 20, 2016 (150)
46 HUMAN_LONGEVITY ss2242192068 Dec 20, 2016 (150)
47 SYSTEMSBIOZJU ss2629428049 Nov 08, 2017 (151)
48 GRF ss2704095747 Nov 08, 2017 (151)
49 GNOMAD ss2966614709 Nov 08, 2017 (151)
50 SWEGEN ss3018035276 Nov 08, 2017 (151)
51 BIOINF_KMB_FNS_UNIBA ss3028765459 Nov 08, 2017 (151)
52 CSHL ss3352469298 Nov 08, 2017 (151)
53 URBANLAB ss3650994726 Oct 12, 2018 (152)
54 EGCUT_WGS ss3684761581 Jul 13, 2019 (153)
55 EVA_DECODE ss3706768557 Jul 13, 2019 (153)
56 ACPOP ss3743340763 Jul 13, 2019 (153)
57 EVA ss3758558479 Jul 13, 2019 (153)
58 PACBIO ss3788627782 Jul 13, 2019 (153)
59 PACBIO ss3793523899 Jul 13, 2019 (153)
60 PACBIO ss3798411084 Jul 13, 2019 (153)
61 KHV_HUMAN_GENOMES ss3821724801 Jul 13, 2019 (153)
62 EVA ss3835642309 Apr 27, 2020 (154)
63 EVA ss3841447634 Apr 27, 2020 (154)
64 EVA ss3846955878 Apr 27, 2020 (154)
65 SGDP_PRJ ss3888953166 Apr 27, 2020 (154)
66 KRGDB ss3939161589 Apr 27, 2020 (154)
67 KOGIC ss3982018065 Apr 27, 2020 (154)
68 TOPMED ss5085965599 Apr 27, 2021 (155)
69 TOMMO_GENOMICS ss5229307880 Apr 27, 2021 (155)
70 1000G_HIGH_COVERAGE ss5308450683 Oct 13, 2022 (156)
71 HUGCELL_USP ss5500817792 Oct 13, 2022 (156)
72 EVA ss5512193752 Oct 13, 2022 (156)
73 1000G_HIGH_COVERAGE ss5614722464 Oct 13, 2022 (156)
74 SANFORD_IMAGENETICS ss5663076357 Oct 13, 2022 (156)
75 TOMMO_GENOMICS ss5788426686 Oct 13, 2022 (156)
76 YY_MCH ss5817908210 Oct 13, 2022 (156)
77 EVA ss5845590493 Oct 13, 2022 (156)
78 EVA ss5853114323 Oct 13, 2022 (156)
79 EVA ss5923104125 Oct 13, 2022 (156)
80 EVA ss5957993332 Oct 13, 2022 (156)
81 1000Genomes NC_000020.10 - 24773931 Oct 12, 2018 (152)
82 1000Genomes_30x NC_000020.11 - 24793295 Oct 13, 2022 (156)
83 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 24773931 Oct 12, 2018 (152)
84 Genetic variation in the Estonian population NC_000020.10 - 24773931 Oct 12, 2018 (152)
85 The Danish reference pan genome NC_000020.10 - 24773931 Apr 27, 2020 (154)
86 gnomAD - Genomes NC_000020.11 - 24793295 Apr 27, 2021 (155)
87 Genome of the Netherlands Release 5 NC_000020.10 - 24773931 Apr 27, 2020 (154)
88 KOREAN population from KRGDB NC_000020.10 - 24773931 Apr 27, 2020 (154)
89 Korean Genome Project NC_000020.11 - 24793295 Apr 27, 2020 (154)
90 Medical Genome Project healthy controls from Spanish population NC_000020.10 - 24773931 Apr 27, 2020 (154)
91 Northern Sweden NC_000020.10 - 24773931 Jul 13, 2019 (153)
92 Qatari NC_000020.10 - 24773931 Apr 27, 2020 (154)
93 SGDP_PRJ NC_000020.10 - 24773931 Apr 27, 2020 (154)
94 Siberian NC_000020.10 - 24773931 Apr 27, 2020 (154)
95 8.3KJPN NC_000020.10 - 24773931 Apr 27, 2021 (155)
96 14KJPN NC_000020.11 - 24793295 Oct 13, 2022 (156)
97 TopMed NC_000020.11 - 24793295 Apr 27, 2021 (155)
98 UK 10K study - Twins NC_000020.10 - 24773931 Oct 12, 2018 (152)
99 A Vietnamese Genetic Variation Database NC_000020.10 - 24773931 Jul 13, 2019 (153)
100 ALFA NC_000020.11 - 24793295 Apr 27, 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)
rs60722863 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78267961, ss81388701, ss82535069, ss91674594, ss111897421, ss113233196, ss117522799, ss168026337, ss169402023, ss172024191, ss203864091, ss208726156, ss283342226, ss287441584, ss292635650 NC_000020.9:24721930:A:G NC_000020.11:24793294:A:G (self)
77944157, 43155979, 30499829, 5647734, 19229951, 46338983, 651779, 16625628, 20203187, 40970146, 10934528, 87277187, 43155979, 9529145, ss228317299, ss237806588, ss243984330, ss566206854, ss662080313, ss994654056, ss1082158183, ss1364490516, ss1429029086, ss1579482795, ss1638642519, ss1681636552, ss1711536019, ss1809472369, ss1938161265, ss1969118466, ss2029865823, ss2158418174, ss2629428049, ss2704095747, ss2966614709, ss3018035276, ss3352469298, ss3684761581, ss3743340763, ss3758558479, ss3788627782, ss3793523899, ss3798411084, ss3835642309, ss3841447634, ss3888953166, ss3939161589, ss5229307880, ss5512193752, ss5663076357, ss5845590493, ss5957993332 NC_000020.10:24773930:A:G NC_000020.11:24793294:A:G (self)
102248399, 549492667, 38396066, 122263790, 361074544, 1479475751, ss2242192068, ss3028765459, ss3650994726, ss3706768557, ss3821724801, ss3846955878, ss3982018065, ss5085965599, ss5308450683, ss5500817792, ss5614722464, ss5788426686, ss5817908210, ss5853114323, ss5923104125 NC_000020.11:24793294:A:G NC_000020.11:24793294:A:G (self)
ss293668, ss1252584, ss2054970, ss3395609, ss8362001, ss19479822, ss21758223, ss96192510, ss106184988, ss115467153, ss135736307, ss156295653 NT_011387.8:24713930:A:G NC_000020.11:24793294:A:G (self)
46338983, ss3939161589 NC_000020.10:24773930:A:T NC_000020.11:24793294:A:T (self)
1479475751 NC_000020.11:24793294:A:T NC_000020.11:24793294:A: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 rs226683

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