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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.

rs13280301

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr8:42694874 (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.

Alleles
A>C / A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.244603 (64744/264690, TOPMED)
A=0.14236 (2386/16760, 8.3KJPN)
A=0.27343 (2847/10412, ALFA) (+ 14 more)
A=0.2550 (1277/5008, 1000G)
A=0.1525 (683/4480, Estonian)
A=0.1609 (620/3854, ALSPAC)
A=0.1721 (638/3708, TWINSUK)
A=0.1751 (513/2930, KOREAN)
A=0.1812 (332/1832, Korea1K)
A=0.142 (142/998, GoNL)
A=0.155 (93/600, NorthernSweden)
A=0.189 (99/524, SGDP_PRJ)
A=0.218 (47/216, Qatari)
A=0.148 (32/216, Vietnamese)
A=0.08 (6/72, Ancient Sardinia)
A=0.13 (7/54, Siberian)
A=0.12 (5/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
3 citations
Genomic View
See rs on genome
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.p13 chr 8 NC_000008.11:g.42694874A>C
GRCh38.p13 chr 8 NC_000008.11:g.42694874A>G
GRCh37.p13 chr 8 NC_000008.10:g.42550017A>C
GRCh37.p13 chr 8 NC_000008.10:g.42550017A>G
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

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 10412 A=0.27343 C=0.00000, G=0.72657
European Sub 6874 A=0.1776 C=0.0000, G=0.8224
African Sub 3178 A=0.4688 C=0.0000, G=0.5312
African Others Sub 112 A=0.509 C=0.000, G=0.491
African American Sub 3066 A=0.4674 C=0.0000, G=0.5326
Asian Sub 4 A=0.0 C=0.0, G=1.0
East Asian Sub 2 A=0.0 C=0.0, G=1.0
Other Asian Sub 2 A=0.0 C=0.0, G=1.0
Latin American 1 Sub 22 A=1.00 C=0.00, G=0.00
Latin American 2 Sub 28 A=1.00 C=0.00, G=0.00
South Asian Sub 6 A=0.7 C=0.0, G=0.3
Other Sub 300 A=0.273 C=0.000, G=0.727


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=0.244603 G=0.755397
8.3KJPN JAPANESE Study-wide 16760 A=0.14236 G=0.85764
1000Genomes Global Study-wide 5008 A=0.2550 G=0.7450
1000Genomes African Sub 1322 A=0.3964 G=0.6036
1000Genomes East Asian Sub 1008 A=0.2034 G=0.7966
1000Genomes Europe Sub 1006 A=0.1640 G=0.8360
1000Genomes South Asian Sub 978 A=0.209 G=0.791
1000Genomes American Sub 694 A=0.258 G=0.742
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.1525 G=0.8475
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.1609 G=0.8391
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.1721 G=0.8279
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.1751 G=0.8249
Korean Genome Project KOREAN Study-wide 1832 A=0.1812 G=0.8188
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.142 G=0.858
Northern Sweden ACPOP Study-wide 600 A=0.155 G=0.845
SGDP_PRJ Global Study-wide 524 A=0.189 G=0.811
Qatari Global Study-wide 216 A=0.218 G=0.782
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.148 G=0.852
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 72 A=0.08 G=0.92
Siberian Global Study-wide 54 A=0.13 G=0.87
The Danish reference pan genome Danish Study-wide 40 A=0.12 G=0.88
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= C G
GRCh38.p13 chr 8 NC_000008.11:g.42694874= NC_000008.11:g.42694874A>C NC_000008.11:g.42694874A>G
GRCh37.p13 chr 8 NC_000008.10:g.42550017= NC_000008.10:g.42550017A>C NC_000008.10:g.42550017A>G
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#.

72 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss22772831 Apr 05, 2004 (121)
2 PERLEGEN ss23481588 Sep 20, 2004 (123)
3 ABI ss43301328 Mar 13, 2006 (126)
4 HGSV ss78046703 Dec 07, 2007 (129)
5 HGSV ss81675918 Dec 15, 2007 (130)
6 HGSV ss81737899 Dec 15, 2007 (130)
7 BCMHGSC_JDW ss93876387 Mar 25, 2008 (129)
8 HUMANGENOME_JCVI ss98069242 Feb 06, 2009 (130)
9 BGI ss105615067 Feb 06, 2009 (130)
10 1000GENOMES ss107989640 Jan 22, 2009 (130)
11 1000GENOMES ss115334202 Jan 25, 2009 (130)
12 ILLUMINA-UK ss115918540 Feb 14, 2009 (130)
13 ENSEMBL ss134403600 Dec 01, 2009 (131)
14 ENSEMBL ss143421086 Dec 01, 2009 (131)
15 GMI ss156307846 Dec 01, 2009 (131)
16 PERLEGEN ss161151697 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss162360717 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss164532507 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss166572593 Jul 04, 2010 (132)
20 BUSHMAN ss199091961 Jul 04, 2010 (132)
21 BCM-HGSC-SUB ss208617707 Jul 04, 2010 (132)
22 1000GENOMES ss223674765 Jul 14, 2010 (132)
23 1000GENOMES ss234415982 Jul 15, 2010 (132)
24 1000GENOMES ss241276907 Jul 15, 2010 (132)
25 BL ss254293372 May 09, 2011 (134)
26 GMI ss279785916 May 04, 2012 (137)
27 GMI ss285835220 Apr 25, 2013 (138)
28 PJP ss294264651 May 09, 2011 (134)
29 TISHKOFF ss560711648 Apr 25, 2013 (138)
30 SSMP ss655143625 Apr 25, 2013 (138)
31 EVA-GONL ss985446977 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1075471137 Aug 21, 2014 (142)
33 1000GENOMES ss1329584204 Aug 21, 2014 (142)
34 DDI ss1431493730 Apr 01, 2015 (144)
35 EVA_GENOME_DK ss1582660833 Apr 01, 2015 (144)
36 EVA_DECODE ss1595044617 Apr 01, 2015 (144)
37 EVA_UK10K_ALSPAC ss1620494216 Apr 01, 2015 (144)
38 EVA_UK10K_TWINSUK ss1663488249 Apr 01, 2015 (144)
39 HAMMER_LAB ss1805508413 Sep 08, 2015 (146)
40 WEILL_CORNELL_DGM ss1928736251 Feb 12, 2016 (147)
41 GENOMED ss1970968450 Jul 19, 2016 (147)
42 JJLAB ss2025071096 Sep 14, 2016 (149)
43 USC_VALOUEV ss2153293515 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2302695578 Dec 20, 2016 (150)
45 TOPMED ss2472352510 Dec 20, 2016 (150)
46 SYSTEMSBIOZJU ss2627017646 Nov 08, 2017 (151)
47 GRF ss2709059666 Nov 08, 2017 (151)
48 GNOMAD ss2865985765 Nov 08, 2017 (151)
49 AFFY ss2986081417 Nov 08, 2017 (151)
50 SWEGEN ss3003068354 Nov 08, 2017 (151)
51 BIOINF_KMB_FNS_UNIBA ss3026325465 Nov 08, 2017 (151)
52 CSHL ss3348154803 Nov 08, 2017 (151)
53 TOPMED ss3560225453 Nov 08, 2017 (151)
54 TOPMED ss3560225454 Nov 08, 2017 (151)
55 URBANLAB ss3648903289 Oct 12, 2018 (152)
56 EGCUT_WGS ss3670762745 Jul 13, 2019 (153)
57 EVA_DECODE ss3721891205 Jul 13, 2019 (153)
58 ACPOP ss3735610969 Jul 13, 2019 (153)
59 EVA ss3767922409 Jul 13, 2019 (153)
60 PACBIO ss3786130524 Jul 13, 2019 (153)
61 PACBIO ss3791389667 Jul 13, 2019 (153)
62 PACBIO ss3796270956 Jul 13, 2019 (153)
63 KHV_HUMAN_GENOMES ss3811082825 Jul 13, 2019 (153)
64 EVA ss3831137530 Apr 26, 2020 (154)
65 EVA ss3839078962 Apr 26, 2020 (154)
66 EVA ss3844537810 Apr 26, 2020 (154)
67 SGDP_PRJ ss3869787819 Apr 26, 2020 (154)
68 KRGDB ss3917246158 Apr 26, 2020 (154)
69 KOGIC ss3963730677 Apr 26, 2020 (154)
70 EVA ss3985357377 Apr 26, 2021 (155)
71 TOPMED ss4783789921 Apr 26, 2021 (155)
72 TOMMO_GENOMICS ss5188402815 Apr 26, 2021 (155)
73 1000Genomes NC_000008.10 - 42550017 Oct 12, 2018 (152)
74 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 42550017 Oct 12, 2018 (152)
75 Genetic variation in the Estonian population NC_000008.10 - 42550017 Oct 12, 2018 (152)
76 The Danish reference pan genome NC_000008.10 - 42550017 Apr 26, 2020 (154)
77 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 294036561 (NC_000008.11:42694873:A:C 1/140156)
Row 294036562 (NC_000008.11:42694873:A:G 107188/140128)

- Apr 26, 2021 (155)
78 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 294036561 (NC_000008.11:42694873:A:C 1/140156)
Row 294036562 (NC_000008.11:42694873:A:G 107188/140128)

- Apr 26, 2021 (155)
79 Genome of the Netherlands Release 5 NC_000008.10 - 42550017 Apr 26, 2020 (154)
80 KOREAN population from KRGDB NC_000008.10 - 42550017 Apr 26, 2020 (154)
81 Korean Genome Project NC_000008.11 - 42694874 Apr 26, 2020 (154)
82 Northern Sweden NC_000008.10 - 42550017 Jul 13, 2019 (153)
83 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000008.10 - 42550017 Apr 26, 2021 (155)
84 Qatari NC_000008.10 - 42550017 Apr 26, 2020 (154)
85 SGDP_PRJ NC_000008.10 - 42550017 Apr 26, 2020 (154)
86 Siberian NC_000008.10 - 42550017 Apr 26, 2020 (154)
87 8.3KJPN NC_000008.10 - 42550017 Apr 26, 2021 (155)
88 TopMed NC_000008.11 - 42694874 Apr 26, 2021 (155)
89 UK 10K study - Twins NC_000008.10 - 42550017 Oct 12, 2018 (152)
90 A Vietnamese Genetic Variation Database NC_000008.10 - 42550017 Jul 13, 2019 (153)
91 ALFA NC_000008.11 - 42694874 Apr 26, 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)
rs60362790 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
2690745701, ss3560225453 NC_000008.11:42694873:A:C NC_000008.11:42694873:A:C (self)
ss78046703, ss81675918, ss81737899, ss93876387, ss107989640, ss115334202, ss115918540, ss162360717, ss164532507, ss166572593, ss199091961, ss208617707, ss254293372, ss279785916, ss285835220, ss294264651, ss1595044617 NC_000008.9:42669173:A:G NC_000008.11:42694873:A:G (self)
41701134, 23191826, 16500993, 8825771, 10356810, 24423552, 8895834, 583304, 10778181, 21804799, 5809869, 46372122, 23191826, 5166045, ss223674765, ss234415982, ss241276907, ss560711648, ss655143625, ss985446977, ss1075471137, ss1329584204, ss1431493730, ss1582660833, ss1620494216, ss1663488249, ss1805508413, ss1928736251, ss1970968450, ss2025071096, ss2153293515, ss2472352510, ss2627017646, ss2709059666, ss2865985765, ss2986081417, ss3003068354, ss3348154803, ss3670762745, ss3735610969, ss3767922409, ss3786130524, ss3791389667, ss3796270956, ss3831137530, ss3839078962, ss3869787819, ss3917246158, ss3985357377, ss5188402815 NC_000008.10:42550016:A:G NC_000008.11:42694873:A:G (self)
20108678, 388189803, 621167481, 2690745701, ss2302695578, ss3026325465, ss3560225454, ss3648903289, ss3721891205, ss3811082825, ss3844537810, ss3963730677, ss4783789921 NC_000008.11:42694873:A:G NC_000008.11:42694873:A:G (self)
ss22772831 NT_008251.14:4612281:A:G NC_000008.11:42694873:A:G (self)
ss23481588, ss43301328, ss98069242, ss105615067, ss134403600, ss143421086, ss156307846, ss161151697 NT_167187.1:30408162:A:G NC_000008.11:42694873:A:G (self)
Help

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

3 citations for rs13280301
PMID Title Author Year Journal
19760673 Association of CHRN genes with "dizziness" to tobacco. Ehringer MA et al. 2010 American journal of medical genetics. Part B, Neuropsychiatric genetics
20736995 Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence. Wessel J et al. 2010 Neuropsychopharmacology
21606948 Varenicline for smoking cessation: nausea severity and variation in nicotinic receptor genes. Swan GE et al. 2012 The pharmacogenomics journal
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.post596+ae089ad