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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.

rs78866303

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr8:42731878 (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=0.000068 (18/264690, TOPMED)
A=0.000370 (93/251480, GnomAD_exome)
A=0.000060 (13/215328, ALFA) (+ 9 more)
A=0.000321 (45/140148, GnomAD)
A=0.000420 (51/121392, ExAC)
A=0.00003 (2/78698, PAGE_STUDY)
A=0.00008 (1/13006, GO-ESP)
A=0.0006 (3/5008, 1000G)
A=0.0004 (2/4480, Estonian)
A=0.0003 (1/3854, ALSPAC)
A=0.0000 (0/3708, TWINSUK)
A=0.003 (1/304, FINRISK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CHRNB3 : Missense 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 8 NC_000008.11:g.42731878G>A
GRCh37.p13 chr 8 NC_000008.10:g.42587021G>A
Gene: CHRNB3, cholinergic receptor nicotinic beta 3 subunit (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CHRNB3 transcript variant 1 NM_000749.5:c.571G>A D [GAC] > N [AAC] Coding Sequence Variant
neuronal acetylcholine receptor subunit beta-3 isoform 1 precursor NP_000740.1:p.Asp191Asn D (Asp) > N (Asn) Missense Variant
CHRNB3 transcript variant 2 NM_001347717.2:c.349G>A D [GAC] > N [AAC] Coding Sequence Variant
neuronal acetylcholine receptor subunit beta-3 isoform 2 NP_001334646.1:p.Asp117Asn D (Asp) > N (Asn) Missense Variant
CHRNB3 transcript variant X1 XM_011544390.2:c.184G>A D [GAC] > N [AAC] Coding Sequence Variant
neuronal acetylcholine receptor subunit beta-3 isoform X1 XP_011542692.1:p.Asp62Asn D (Asp) > N (Asn) Missense 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 215328 G=0.999940 A=0.000060
European Sub 190492 G=0.999937 A=0.000063
African Sub 4954 G=1.0000 A=0.0000
African Others Sub 176 G=1.000 A=0.000
African American Sub 4778 G=1.0000 A=0.0000
Asian Sub 3438 G=1.0000 A=0.0000
East Asian Sub 2756 G=1.0000 A=0.0000
Other Asian Sub 682 G=1.000 A=0.000
Latin American 1 Sub 796 G=1.000 A=0.000
Latin American 2 Sub 968 G=1.000 A=0.000
South Asian Sub 280 G=1.000 A=0.000
Other Sub 14400 G=0.99993 A=0.00007


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=0.999932 A=0.000068
gnomAD - Exomes Global Study-wide 251480 G=0.999630 A=0.000370
gnomAD - Exomes European Sub 135406 G=0.999335 A=0.000665
gnomAD - Exomes Asian Sub 49010 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34592 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16254 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6138 G=0.9995 A=0.0005
gnomAD - Genomes Global Study-wide 140148 G=0.999679 A=0.000321
gnomAD - Genomes European Sub 75910 G=0.99942 A=0.00058
gnomAD - Genomes African Sub 41992 G=1.00000 A=0.00000
gnomAD - Genomes American Sub 13640 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2148 G=0.9995 A=0.0005
ExAC Global Study-wide 121392 G=0.999580 A=0.000420
ExAC Europe Sub 73348 G=0.99930 A=0.00070
ExAC Asian Sub 25166 G=1.00000 A=0.00000
ExAC American Sub 11572 G=1.00000 A=0.00000
ExAC African Sub 10400 G=1.00000 A=0.00000
ExAC Other Sub 906 G=1.000 A=0.000
The PAGE Study Global Study-wide 78698 G=0.99997 A=0.00003
The PAGE Study AfricanAmerican Sub 32514 G=0.99997 A=0.00003
The PAGE Study Mexican Sub 10808 G=1.00000 A=0.00000
The PAGE Study Asian Sub 8318 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7918 G=0.9999 A=0.0001
The PAGE Study NativeHawaiian Sub 4534 G=1.0000 A=0.0000
The PAGE Study Cuban Sub 4230 G=1.0000 A=0.0000
The PAGE Study Dominican Sub 3828 G=1.0000 A=0.0000
The PAGE Study CentralAmerican Sub 2450 G=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1982 G=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1260 G=1.0000 A=0.0000
The PAGE Study SouthAsian Sub 856 G=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 13006 G=0.99992 A=0.00008
GO Exome Sequencing Project European American Sub 8600 G=0.9999 A=0.0001
GO Exome Sequencing Project African American Sub 4406 G=1.0000 A=0.0000
1000Genomes Global Study-wide 5008 G=0.9994 A=0.0006
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=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9996 A=0.0004
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9997 A=0.0003
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=1.0000 A=0.0000
FINRISK Finnish from FINRISK project Study-wide 304 G=0.997 A=0.003
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 8 NC_000008.11:g.42731878= NC_000008.11:g.42731878G>A
GRCh37.p13 chr 8 NC_000008.10:g.42587021= NC_000008.10:g.42587021G>A
CHRNB3 transcript variant 1 NM_000749.5:c.571= NM_000749.5:c.571G>A
CHRNB3 transcript variant 1 NM_000749.4:c.571= NM_000749.4:c.571G>A
CHRNB3 transcript NM_000749.3:c.571= NM_000749.3:c.571G>A
CHRNB3 transcript variant 2 NM_001347717.2:c.349= NM_001347717.2:c.349G>A
CHRNB3 transcript variant 2 NM_001347717.1:c.349= NM_001347717.1:c.349G>A
CHRNB3 transcript variant X1 XM_011544390.2:c.184= XM_011544390.2:c.184G>A
neuronal acetylcholine receptor subunit beta-3 isoform 1 precursor NP_000740.1:p.Asp191= NP_000740.1:p.Asp191Asn
neuronal acetylcholine receptor subunit beta-3 isoform 2 NP_001334646.1:p.Asp117= NP_001334646.1:p.Asp117Asn
neuronal acetylcholine receptor subunit beta-3 isoform X1 XP_011542692.1:p.Asp62= XP_011542692.1:p.Asp62Asn
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#.

40 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss161151693 Dec 01, 2009 (131)
2 1000GENOMES ss334840576 May 09, 2011 (134)
3 NHLBI-ESP ss342258039 May 09, 2011 (134)
4 1000GENOMES ss490964543 May 04, 2012 (137)
5 EXOME_CHIP ss491413085 May 04, 2012 (137)
6 ILLUMINA ss780869691 Sep 08, 2015 (146)
7 ILLUMINA ss783554721 Sep 08, 2015 (146)
8 1000GENOMES ss1329585312 Aug 21, 2014 (142)
9 EVA_FINRISK ss1584058314 Apr 01, 2015 (144)
10 EVA_UK10K_ALSPAC ss1620494788 Apr 01, 2015 (144)
11 EVA_UK10K_TWINSUK ss1663488821 Apr 01, 2015 (144)
12 EVA_EXAC ss1689184661 Apr 01, 2015 (144)
13 ILLUMINA ss1752732675 Sep 08, 2015 (146)
14 ILLUMINA ss1917828267 Feb 12, 2016 (147)
15 ILLUMINA ss1946235860 Feb 12, 2016 (147)
16 ILLUMINA ss1959106923 Feb 12, 2016 (147)
17 HUMAN_LONGEVITY ss2302697629 Dec 20, 2016 (150)
18 ILLUMINA ss2711136906 Nov 08, 2017 (151)
19 GNOMAD ss2737136460 Nov 08, 2017 (151)
20 GNOMAD ss2748042480 Nov 08, 2017 (151)
21 GNOMAD ss2865988885 Nov 08, 2017 (151)
22 AFFY ss2985437766 Nov 08, 2017 (151)
23 AFFY ss2986081521 Nov 08, 2017 (151)
24 ILLUMINA ss3022841308 Nov 08, 2017 (151)
25 TOPMED ss3560232369 Nov 08, 2017 (151)
26 ILLUMINA ss3630049845 Oct 12, 2018 (152)
27 ILLUMINA ss3635169792 Oct 12, 2018 (152)
28 ILLUMINA ss3640877082 Oct 12, 2018 (152)
29 ILLUMINA ss3644969064 Oct 12, 2018 (152)
30 ILLUMINA ss3653382984 Oct 12, 2018 (152)
31 ILLUMINA ss3654199991 Oct 12, 2018 (152)
32 EGCUT_WGS ss3670763225 Jul 13, 2019 (153)
33 EVA_DECODE ss3721891774 Jul 13, 2019 (153)
34 ILLUMINA ss3726534005 Jul 13, 2019 (153)
35 ILLUMINA ss3744579796 Jul 13, 2019 (153)
36 ILLUMINA ss3745469665 Jul 13, 2019 (153)
37 PAGE_CC ss3771439499 Jul 13, 2019 (153)
38 ILLUMINA ss3772962116 Jul 13, 2019 (153)
39 EVA ss3824367523 Apr 26, 2020 (154)
40 TOPMED ss4783798447 Apr 26, 2021 (155)
41 1000Genomes NC_000008.10 - 42587021 Oct 12, 2018 (152)
42 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 42587021 Oct 12, 2018 (152)
43 Genetic variation in the Estonian population NC_000008.10 - 42587021 Oct 12, 2018 (152)
44 ExAC NC_000008.10 - 42587021 Oct 12, 2018 (152)
45 FINRISK NC_000008.10 - 42587021 Apr 26, 2020 (154)
46 gnomAD - Genomes NC_000008.11 - 42731878 Apr 26, 2021 (155)
47 gnomAD - Exomes NC_000008.10 - 42587021 Jul 13, 2019 (153)
48 GO Exome Sequencing Project NC_000008.10 - 42587021 Oct 12, 2018 (152)
49 The PAGE Study NC_000008.11 - 42731878 Jul 13, 2019 (153)
50 TopMed NC_000008.11 - 42731878 Apr 26, 2021 (155)
51 UK 10K study - Twins NC_000008.10 - 42587021 Oct 12, 2018 (152)
52 ALFA NC_000008.11 - 42731878 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
41702283, 23192462, 16501473, 9283743, 54775, 6307977, 825370, 23192462, ss334840576, ss342258039, ss490964543, ss491413085, ss780869691, ss783554721, ss1329585312, ss1584058314, ss1620494788, ss1663488821, ss1689184661, ss1752732675, ss1917828267, ss1946235860, ss1959106923, ss2711136906, ss2737136460, ss2748042480, ss2865988885, ss2985437766, ss2986081521, ss3022841308, ss3630049845, ss3635169792, ss3640877082, ss3644969064, ss3653382984, ss3654199991, ss3670763225, ss3744579796, ss3745469665, ss3772962116, ss3824367523 NC_000008.10:42587020:G:A NC_000008.11:42731877:G:A (self)
294044401, 660968, 388195115, 621176007, 2702402125, ss2302697629, ss3560232369, ss3721891774, ss3726534005, ss3771439499, ss4783798447 NC_000008.11:42731877:G:A NC_000008.11:42731877:G:A (self)
ss161151693 NT_167187.1:30445166:G:A NC_000008.11:42731877: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 rs78866303

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