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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.

rs8192485

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:154569740 (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>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.003064 (811/264690, TOPMED)
A=0.002988 (419/140212, GnomAD)
A=0.00537 (103/19184, ALFA) (+ 12 more)
A=0.00447 (46/10300, GO-ESP)
A=0.0030 (15/5008, 1000G)
A=0.0089 (40/4480, Estonian)
A=0.0044 (17/3854, ALSPAC)
A=0.0049 (18/3708, TWINSUK)
A=0.008 (5/600, NorthernSweden)
A=0.002 (1/534, MGP)
A=0.000 (0/326, HapMap)
A=0.003 (1/304, FINRISK)
A=0.005 (1/216, Qatari)
G=0.5 (2/4, SGDP_PRJ)
A=0.5 (2/4, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CHRNB2 : Intron Variant
Publications
0 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 1 NC_000001.11:g.154569740G>A
GRCh37.p13 chr 1 NC_000001.10:g.154542216G>A
CHRNB2 RefSeqGene NG_008027.1:g.6960G>A
Gene: CHRNB2, cholinergic receptor nicotinic beta 2 subunit (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CHRNB2 transcript NM_000748.3:c.211-52G>A N/A Intron Variant
CHRNB2 transcript variant X2 XM_017000180.2:c.-164-52G…

XM_017000180.2:c.-164-52G>A

N/A Intron Variant
CHRNB2 transcript variant X1 XR_001736952.2:n. N/A Intron Variant
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 19184 G=0.99463 A=0.00537
European Sub 14286 G=0.99328 A=0.00672
African Sub 2970 G=0.9987 A=0.0013
African Others Sub 114 G=1.000 A=0.000
African American Sub 2856 G=0.9986 A=0.0014
Asian Sub 116 G=1.000 A=0.000
East Asian Sub 88 G=1.00 A=0.00
Other Asian Sub 28 G=1.00 A=0.00
Latin American 1 Sub 152 G=0.993 A=0.007
Latin American 2 Sub 616 G=0.997 A=0.003
South Asian Sub 98 G=1.00 A=0.00
Other Sub 946 G=1.000 A=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 G=0.996936 A=0.003064
gnomAD - Genomes Global Study-wide 140212 G=0.997012 A=0.002988
gnomAD - Genomes European Sub 75922 G=0.99559 A=0.00441
gnomAD - Genomes African Sub 42020 G=0.99919 A=0.00081
gnomAD - Genomes American Sub 13664 G=0.99905 A=0.00095
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9919 A=0.0081
gnomAD - Genomes East Asian Sub 3134 G=0.9994 A=0.0006
gnomAD - Genomes Other Sub 2148 G=0.9963 A=0.0037
GO Exome Sequencing Project Global Study-wide 10300 G=0.99553 A=0.00447
GO Exome Sequencing Project European American Sub 7164 G=0.9936 A=0.0064
GO Exome Sequencing Project African American Sub 3136 G=1.0000 A=0.0000
1000Genomes Global Study-wide 5008 G=0.9970 A=0.0030
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9970 A=0.0030
1000Genomes South Asian Sub 978 G=0.990 A=0.010
1000Genomes American Sub 694 G=0.997 A=0.003
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9911 A=0.0089
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9956 A=0.0044
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9951 A=0.0049
Northern Sweden ACPOP Study-wide 600 G=0.992 A=0.008
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.998 A=0.002
HapMap Global Study-wide 326 G=1.000 A=0.000
HapMap American Sub 120 G=1.000 A=0.000
HapMap African Sub 118 G=1.000 A=0.000
HapMap Asian Sub 88 G=1.00 A=0.00
FINRISK Finnish from FINRISK project Study-wide 304 G=0.997 A=0.003
Qatari Global Study-wide 216 G=0.995 A=0.005
SGDP_PRJ Global Study-wide 4 G=0.5 A=0.5
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= A
GRCh38.p13 chr 1 NC_000001.11:g.154569740= NC_000001.11:g.154569740G>A
GRCh37.p13 chr 1 NC_000001.10:g.154542216= NC_000001.10:g.154542216G>A
CHRNB2 RefSeqGene NG_008027.1:g.6960= NG_008027.1:g.6960G>A
CHRNB2 transcript NM_000748.2:c.211-52= NM_000748.2:c.211-52G>A
CHRNB2 transcript NM_000748.3:c.211-52= NM_000748.3:c.211-52G>A
CHRNB2 transcript variant X2 XM_017000180.2:c.-164-52= XM_017000180.2:c.-164-52G>A
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#.

29 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 HG_BONN_CNS_SNPS ss12586766 Aug 27, 2003 (117)
2 SHGC ss99307540 Feb 05, 2009 (130)
3 PERLEGEN ss161151679 Dec 01, 2009 (131)
4 1000GENOMES ss328950751 May 09, 2011 (134)
5 CLINSEQ_SNP ss491605072 May 04, 2012 (137)
6 ILLUMINA ss535799139 Sep 08, 2015 (146)
7 NHLBI-ESP ss712336891 Apr 25, 2013 (138)
8 1000GENOMES ss1292925341 Aug 21, 2014 (142)
9 EVA_FINRISK ss1584011376 Apr 01, 2015 (144)
10 EVA_DECODE ss1585063934 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1601213838 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1644207871 Apr 01, 2015 (144)
13 EVA_MGP ss1710925483 Apr 01, 2015 (144)
14 WEILL_CORNELL_DGM ss1918916437 Feb 12, 2016 (147)
15 HUMAN_LONGEVITY ss2166540621 Dec 20, 2016 (150)
16 TOPMED ss2329045515 Dec 20, 2016 (150)
17 GNOMAD ss2761315168 Nov 08, 2017 (151)
18 SWEGEN ss2987752027 Nov 08, 2017 (151)
19 TOPMED ss3092141125 Nov 08, 2017 (151)
20 ILLUMINA ss3626208385 Oct 11, 2018 (152)
21 EGCUT_WGS ss3655692211 Jul 12, 2019 (153)
22 EVA_DECODE ss3687782235 Jul 12, 2019 (153)
23 ACPOP ss3727485682 Jul 12, 2019 (153)
24 EVA ss3823663133 Apr 25, 2020 (154)
25 EVA ss3825575794 Apr 25, 2020 (154)
26 SGDP_PRJ ss3850006535 Apr 25, 2020 (154)
27 FSA-LAB ss3983947178 Apr 25, 2021 (155)
28 EVA ss3986138971 Apr 25, 2021 (155)
29 TOPMED ss4468299682 Apr 25, 2021 (155)
30 1000Genomes NC_000001.10 - 154542216 Oct 11, 2018 (152)
31 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 154542216 Oct 11, 2018 (152)
32 Genetic variation in the Estonian population NC_000001.10 - 154542216 Oct 11, 2018 (152)
33 FINRISK NC_000001.10 - 154542216 Apr 25, 2020 (154)
34 gnomAD - Genomes NC_000001.11 - 154569740 Apr 25, 2021 (155)
35 GO Exome Sequencing Project NC_000001.10 - 154542216 Oct 11, 2018 (152)
36 HapMap NC_000001.11 - 154569740 Apr 25, 2020 (154)
37 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 154542216 Apr 25, 2020 (154)
38 Northern Sweden NC_000001.10 - 154542216 Jul 12, 2019 (153)
39 Qatari NC_000001.10 - 154542216 Apr 25, 2020 (154)
40 SGDP_PRJ NC_000001.10 - 154542216 Apr 25, 2020 (154)
41 TopMed NC_000001.11 - 154569740 Apr 25, 2021 (155)
42 UK 10K study - Twins NC_000001.10 - 154542216 Oct 11, 2018 (152)
43 ALFA NC_000001.11 - 154569740 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss491605072, ss1585063934 NC_000001.9:152808839:G:A NC_000001.11:154569739:G:A (self)
3717389, 2021062, 1430459, 7837, 121731, 42235, 770547, 958367, 2023515, 2021062, ss328950751, ss535799139, ss712336891, ss1292925341, ss1584011376, ss1601213838, ss1644207871, ss1710925483, ss1918916437, ss2329045515, ss2761315168, ss2987752027, ss3626208385, ss3655692211, ss3727485682, ss3823663133, ss3825575794, ss3850006535, ss3983947178, ss3986138971 NC_000001.10:154542215:G:A NC_000001.11:154569739:G:A (self)
27049170, 176436, 20030713, 31906017, 8514421880, ss2166540621, ss3092141125, ss3687782235, ss4468299682 NC_000001.11:154569739:G:A NC_000001.11:154569739:G:A (self)
ss12586766, ss99307540, ss161151679 NT_004487.19:6030857:G:A NC_000001.11:154569739:G:A (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 rs8192485

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