Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs13277524

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr8:42694914 (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
G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.380124 (100615/264690, TOPMED)
G=0.371158 (51997/140094, GnomAD)
G=0.30455 (5753/18890, ALFA) (+ 14 more)
G=0.14236 (2386/16760, 8.3KJPN)
G=0.3804 (1905/5008, 1000G)
G=0.2301 (1031/4480, Estonian)
G=0.2239 (863/3854, ALSPAC)
G=0.2322 (861/3708, TWINSUK)
G=0.1754 (514/2930, KOREAN)
G=0.1812 (332/1832, Korea1K)
G=0.200 (200/998, GoNL)
G=0.232 (139/600, NorthernSweden)
G=0.229 (110/480, SGDP_PRJ)
G=0.361 (78/216, Qatari)
G=0.145 (31/214, Vietnamese)
G=0.19 (10/52, Siberian)
G=0.25 (10/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
7 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.42694914G>T
GRCh37.p13 chr 8 NC_000008.10:g.42550057G>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

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 18890 G=0.30455 T=0.69545
European Sub 14286 G=0.22554 T=0.77446
African Sub 2946 G=0.6877 T=0.3123
African Others Sub 114 G=0.825 T=0.175
African American Sub 2832 G=0.6822 T=0.3178
Asian Sub 112 G=0.196 T=0.804
East Asian Sub 86 G=0.19 T=0.81
Other Asian Sub 26 G=0.23 T=0.77
Latin American 1 Sub 146 G=0.370 T=0.630
Latin American 2 Sub 610 G=0.239 T=0.761
South Asian Sub 98 G=0.32 T=0.68
Other Sub 692 G=0.364 T=0.636


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 G=0.380124 T=0.619876
gnomAD - Genomes Global Study-wide 140094 G=0.371158 T=0.628842
gnomAD - Genomes European Sub 75898 G=0.22429 T=0.77571
gnomAD - Genomes African Sub 41942 G=0.68573 T=0.31427
gnomAD - Genomes American Sub 13646 G=0.28287 T=0.71713
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.2942 T=0.7058
gnomAD - Genomes East Asian Sub 3134 G=0.2020 T=0.7980
gnomAD - Genomes Other Sub 2150 G=0.3451 T=0.6549
8.3KJPN JAPANESE Study-wide 16760 G=0.14236 T=0.85764
1000Genomes Global Study-wide 5008 G=0.3804 T=0.6196
1000Genomes African Sub 1322 G=0.7534 T=0.2466
1000Genomes East Asian Sub 1008 G=0.2044 T=0.7956
1000Genomes Europe Sub 1006 G=0.2237 T=0.7763
1000Genomes South Asian Sub 978 G=0.273 T=0.727
1000Genomes American Sub 694 G=0.304 T=0.696
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.2301 T=0.7699
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.2239 T=0.7761
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.2322 T=0.7678
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.1754 T=0.8246
Korean Genome Project KOREAN Study-wide 1832 G=0.1812 T=0.8188
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.200 T=0.800
Northern Sweden ACPOP Study-wide 600 G=0.232 T=0.768
SGDP_PRJ Global Study-wide 480 G=0.229 T=0.771
Qatari Global Study-wide 216 G=0.361 T=0.639
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.145 T=0.855
Siberian Global Study-wide 52 G=0.19 T=0.81
The Danish reference pan genome Danish Study-wide 40 G=0.25 T=0.75
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 G= T
GRCh38.p13 chr 8 NC_000008.11:g.42694914= NC_000008.11:g.42694914G>T
GRCh37.p13 chr 8 NC_000008.10:g.42550057= NC_000008.10:g.42550057G>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#.

67 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss22762212 Apr 05, 2004 (121)
2 PERLEGEN ss23481600 Sep 20, 2004 (123)
3 ABI ss43172451 Mar 14, 2006 (126)
4 HGSV ss78307400 Dec 06, 2007 (129)
5 HGSV ss83039140 Dec 14, 2007 (130)
6 HGSV ss83376381 Dec 14, 2007 (130)
7 BCMHGSC_JDW ss93876388 Mar 25, 2008 (129)
8 HUMANGENOME_JCVI ss98069243 Feb 04, 2009 (130)
9 BGI ss105615068 Feb 04, 2009 (130)
10 1000GENOMES ss107989644 Jan 22, 2009 (130)
11 1000GENOMES ss115334207 Jan 25, 2009 (130)
12 ILLUMINA-UK ss115918542 Feb 14, 2009 (130)
13 ENSEMBL ss134403597 Dec 01, 2009 (131)
14 ENSEMBL ss143421090 Dec 01, 2009 (131)
15 GMI ss156307855 Dec 01, 2009 (131)
16 PERLEGEN ss161151696 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss162360722 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss164532521 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss166572603 Jul 04, 2010 (132)
20 BUSHMAN ss199091966 Jul 04, 2010 (132)
21 BCM-HGSC-SUB ss208654524 Jul 04, 2010 (132)
22 1000GENOMES ss223674766 Jul 14, 2010 (132)
23 1000GENOMES ss234415983 Jul 15, 2010 (132)
24 1000GENOMES ss241276908 Jul 15, 2010 (132)
25 BL ss254293378 May 09, 2011 (134)
26 GMI ss279785917 May 04, 2012 (137)
27 GMI ss285835221 Apr 25, 2013 (138)
28 PJP ss294264652 May 09, 2011 (134)
29 TISHKOFF ss560711649 Apr 25, 2013 (138)
30 SSMP ss655143626 Apr 25, 2013 (138)
31 EVA-GONL ss985446978 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1075471138 Aug 21, 2014 (142)
33 1000GENOMES ss1329584206 Aug 21, 2014 (142)
34 DDI ss1431493731 Apr 01, 2015 (144)
35 EVA_GENOME_DK ss1582660834 Apr 01, 2015 (144)
36 EVA_DECODE ss1595044618 Apr 01, 2015 (144)
37 EVA_UK10K_ALSPAC ss1620494217 Apr 01, 2015 (144)
38 EVA_UK10K_TWINSUK ss1663488250 Apr 01, 2015 (144)
39 HAMMER_LAB ss1805508414 Sep 08, 2015 (146)
40 WEILL_CORNELL_DGM ss1928736252 Feb 12, 2016 (147)
41 GENOMED ss1970968451 Jul 19, 2016 (147)
42 JJLAB ss2025071097 Sep 14, 2016 (149)
43 USC_VALOUEV ss2153293516 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2302695582 Dec 20, 2016 (150)
45 TOPMED ss2472352513 Dec 20, 2016 (150)
46 SYSTEMSBIOZJU ss2627017647 Nov 08, 2017 (151)
47 GRF ss2709059667 Nov 08, 2017 (151)
48 GNOMAD ss2865985771 Nov 08, 2017 (151)
49 AFFY ss2986081418 Nov 08, 2017 (151)
50 SWEGEN ss3003068355 Nov 08, 2017 (151)
51 BIOINF_KMB_FNS_UNIBA ss3026325466 Nov 08, 2017 (151)
52 CSHL ss3348154804 Nov 08, 2017 (151)
53 TOPMED ss3560225464 Nov 08, 2017 (151)
54 URBANLAB ss3648903290 Oct 12, 2018 (152)
55 EGCUT_WGS ss3670762748 Jul 13, 2019 (153)
56 EVA_DECODE ss3721891206 Jul 13, 2019 (153)
57 ACPOP ss3735610970 Jul 13, 2019 (153)
58 EVA ss3767922410 Jul 13, 2019 (153)
59 KHV_HUMAN_GENOMES ss3811082827 Jul 13, 2019 (153)
60 EVA ss3831137531 Apr 26, 2020 (154)
61 EVA ss3839078963 Apr 26, 2020 (154)
62 EVA ss3844537811 Apr 26, 2020 (154)
63 SGDP_PRJ ss3869787820 Apr 26, 2020 (154)
64 KRGDB ss3917246159 Apr 26, 2020 (154)
65 KOGIC ss3963730678 Apr 26, 2020 (154)
66 TOPMED ss4783789936 Apr 26, 2021 (155)
67 TOMMO_GENOMICS ss5188402816 Apr 26, 2021 (155)
68 1000Genomes NC_000008.10 - 42550057 Oct 12, 2018 (152)
69 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 42550057 Oct 12, 2018 (152)
70 Genetic variation in the Estonian population NC_000008.10 - 42550057 Oct 12, 2018 (152)
71 The Danish reference pan genome NC_000008.10 - 42550057 Apr 26, 2020 (154)
72 gnomAD - Genomes NC_000008.11 - 42694914 Apr 26, 2021 (155)
73 Genome of the Netherlands Release 5 NC_000008.10 - 42550057 Apr 26, 2020 (154)
74 KOREAN population from KRGDB NC_000008.10 - 42550057 Apr 26, 2020 (154)
75 Korean Genome Project NC_000008.11 - 42694914 Apr 26, 2020 (154)
76 Northern Sweden NC_000008.10 - 42550057 Jul 13, 2019 (153)
77 Qatari NC_000008.10 - 42550057 Apr 26, 2020 (154)
78 SGDP_PRJ NC_000008.10 - 42550057 Apr 26, 2020 (154)
79 Siberian NC_000008.10 - 42550057 Apr 26, 2020 (154)
80 8.3KJPN NC_000008.10 - 42550057 Apr 26, 2021 (155)
81 TopMed NC_000008.11 - 42694914 Apr 26, 2021 (155)
82 UK 10K study - Twins NC_000008.10 - 42550057 Oct 12, 2018 (152)
83 A Vietnamese Genetic Variation Database NC_000008.10 - 42550057 Jul 13, 2019 (153)
84 ALFA NC_000008.11 - 42694914 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)
rs57996866 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78307400, ss83039140, ss83376381, ss93876388, ss107989644, ss115334207, ss115918542, ss162360722, ss164532521, ss166572603, ss199091966, ss208654524, ss254293378, ss279785917, ss285835221, ss294264652, ss1595044618 NC_000008.9:42669213:G:T NC_000008.11:42694913:G:T (self)
41701136, 23191827, 16500996, 8825772, 10356811, 24423553, 8895835, 10778182, 21804800, 5809870, 46372123, 23191827, 5166046, ss223674766, ss234415983, ss241276908, ss560711649, ss655143626, ss985446978, ss1075471138, ss1329584206, ss1431493731, ss1582660834, ss1620494217, ss1663488250, ss1805508414, ss1928736252, ss1970968451, ss2025071097, ss2153293516, ss2472352513, ss2627017647, ss2709059667, ss2865985771, ss2986081418, ss3003068355, ss3348154804, ss3670762748, ss3735610970, ss3767922410, ss3831137531, ss3839078963, ss3869787820, ss3917246159, ss5188402816 NC_000008.10:42550056:G:T NC_000008.11:42694913:G:T (self)
294036574, 20108679, 388189810, 621167496, 5974799958, ss2302695582, ss3026325466, ss3560225464, ss3648903290, ss3721891206, ss3811082827, ss3844537811, ss3963730678, ss4783789936 NC_000008.11:42694913:G:T NC_000008.11:42694913:G:T (self)
ss22762212 NT_008251.14:4612321:G:T NC_000008.11:42694913:G:T (self)
ss23481600, ss43172451, ss98069243, ss105615068, ss134403597, ss143421090, ss156307855, ss161151696 NT_167187.1:30408202:G:T NC_000008.11:42694913:G:T (self)
Help

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

7 citations for rs13277524
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
20584212 Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. Saccone NL et al. 2010 Genes, brain, and behavior
21079997 Uncovering hidden variance: pair-wise SNP analysis accounts for additional variance in nicotine dependence. Culverhouse RC et al. 2011 Human genetics
21191315 Genetic association of bipolar disorder with the β(3) nicotinic receptor subunit gene. Hartz SM et al. 2011 Psychiatric genetics
21606948 Varenicline for smoking cessation: nausea severity and variation in nicotinic receptor genes. Swan GE et al. 2012 The pharmacogenomics journal
27327258 Crucial roles of the CHRNB3-CHRNA6 gene cluster on chromosome 8 in nicotine dependence: update and subjects for future research. Wen L et al. 2016 Translational psychiatry
27827986 Replicated Risk Nicotinic Cholinergic Receptor Genes for Nicotine Dependence. Zuo L et al. 2016 Genes
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