Name: rs4952
Published: September 21, 2022
License: Open Access

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.

rs4952

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:42731922 (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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.029438 (7792/264690, TOPMED)
T=0.043470 (10931/251458, GnomAD_exome)
T=0.042524 (7680/180606, ALFA) (+ 21 more)
T=0.030527 (4277/140104, GnomAD)
T=0.044850 (5445/121406, ExAC)
T=0.01788 (1407/78698, PAGE_STUDY)
T=0.03152 (410/13006, GO-ESP)
T=0.0220 (141/6404, 1000G_30x)
T=0.0230 (115/5008, 1000G)
T=0.0279 (125/4480, Estonian)
T=0.0420 (162/3854, ALSPAC)
T=0.0413 (153/3708, TWINSUK)
T=0.0262 (36/1374, HapMap)
T=0.031 (31/998, GoNL)
T=0.008 (6/792, PRJEB37584)
T=0.040 (24/600, NorthernSweden)
T=0.032 (17/534, MGP)
T=0.049 (15/304, FINRISK)
T=0.093 (20/216, Qatari)
T=0.05 (2/40, GENOME_DK)
C=0.50 (15/30, SGDP_PRJ)
T=0.50 (15/30, SGDP_PRJ)
C=0.5 (5/10, Siberian)
T=0.5 (5/10, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CHRNB3 : Synonymous Variant
Publications: 11 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	196966	C=0.958429	T=0.041571
European	Sub	161866	C=0.955914	T=0.044086
African	Sub	12578	C=0.98895	T=0.01105
African Others	Sub	434	C=0.998	T=0.002
African American	Sub	12144	C=0.98864	T=0.01136
Asian	Sub	720	C=0.996	T=0.004
East Asian	Sub	558	C=0.996	T=0.004
Other Asian	Sub	162	C=0.994	T=0.006
Latin American 1	Sub	1106	C=0.9611	T=0.0389
Latin American 2	Sub	6348	C=0.9753	T=0.0247
South Asian	Sub	190	C=0.905	T=0.095
Other	Sub	14158	C=0.95112	T=0.04888

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.970562	T=0.029438
gnomAD - Exomes	Global	Study-wide	251458	C=0.956530	T=0.043470
gnomAD - Exomes	European	Sub	135386	C=0.956207	T=0.043793
gnomAD - Exomes	Asian	Sub	49010	C=0.94619	T=0.05381
gnomAD - Exomes	American	Sub	34592	C=0.97525	T=0.02475
gnomAD - Exomes	African	Sub	16254	C=0.99046	T=0.00954
gnomAD - Exomes	Ashkenazi Jewish	Sub	10078	C=0.89879	T=0.10121
gnomAD - Exomes	Other	Sub	6138	C=0.9456	T=0.0544
Allele Frequency Aggregator	Total	Global	180606	C=0.957476	T=0.042524
Allele Frequency Aggregator	European	Sub	151778	C=0.955672	T=0.044328
Allele Frequency Aggregator	Other	Sub	12724	C=0.94962	T=0.05038
Allele Frequency Aggregator	African	Sub	7740	C=0.9884	T=0.0116
Allele Frequency Aggregator	Latin American 2	Sub	6348	C=0.9753	T=0.0247
Allele Frequency Aggregator	Latin American 1	Sub	1106	C=0.9611	T=0.0389
Allele Frequency Aggregator	Asian	Sub	720	C=0.996	T=0.004
Allele Frequency Aggregator	South Asian	Sub	190	C=0.905	T=0.095
gnomAD - Genomes	Global	Study-wide	140104	C=0.969473	T=0.030527
gnomAD - Genomes	European	Sub	75898	C=0.95987	T=0.04013
gnomAD - Genomes	African	Sub	41970	C=0.99064	T=0.00936
gnomAD - Genomes	American	Sub	13634	C=0.96956	T=0.03044
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.8928	T=0.1072
gnomAD - Genomes	East Asian	Sub	3132	C=0.9997	T=0.0003
gnomAD - Genomes	Other	Sub	2150	C=0.9693	T=0.0307
ExAC	Global	Study-wide	121406	C=0.955150	T=0.044850
ExAC	Europe	Sub	73350	C=0.95147	T=0.04853
ExAC	Asian	Sub	25166	C=0.94330	T=0.05670
ExAC	American	Sub	11578	C=0.97478	T=0.02522
ExAC	African	Sub	10404	C=0.99058	T=0.00942
ExAC	Other	Sub	908	C=0.925	T=0.075
The PAGE Study	Global	Study-wide	78698	C=0.98212	T=0.01788
The PAGE Study	AfricanAmerican	Sub	32514	C=0.98834	T=0.01166
The PAGE Study	Mexican	Sub	10810	C=0.97299	T=0.02701
The PAGE Study	Asian	Sub	8318	C=0.9992	T=0.0008
The PAGE Study	PuertoRican	Sub	7918	C=0.9765	T=0.0235
The PAGE Study	NativeHawaiian	Sub	4534	C=0.9868	T=0.0132
The PAGE Study	Cuban	Sub	4228	C=0.9605	T=0.0395
The PAGE Study	Dominican	Sub	3828	C=0.9684	T=0.0316
The PAGE Study	CentralAmerican	Sub	2450	C=0.9800	T=0.0200
The PAGE Study	SouthAmerican	Sub	1982	C=0.9798	T=0.0202
The PAGE Study	NativeAmerican	Sub	1260	C=0.9738	T=0.0262
The PAGE Study	SouthAsian	Sub	856	C=0.915	T=0.085
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.96848	T=0.03152
GO Exome Sequencing Project	European American	Sub	8600	C=0.9590	T=0.0410
GO Exome Sequencing Project	African American	Sub	4406	C=0.9871	T=0.0129
1000Genomes_30x	Global	Study-wide	6404	C=0.9780	T=0.0220
1000Genomes_30x	African	Sub	1786	C=0.9938	T=0.0062
1000Genomes_30x	Europe	Sub	1266	C=0.9660	T=0.0340
1000Genomes_30x	South Asian	Sub	1202	C=0.9459	T=0.0541
1000Genomes_30x	East Asian	Sub	1170	C=0.9983	T=0.0017
1000Genomes_30x	American	Sub	980	C=0.980	T=0.020
1000Genomes	Global	Study-wide	5008	C=0.9770	T=0.0230
1000Genomes	African	Sub	1322	C=0.9939	T=0.0061
1000Genomes	East Asian	Sub	1008	C=0.9980	T=0.0020
1000Genomes	Europe	Sub	1006	C=0.9642	T=0.0358
1000Genomes	South Asian	Sub	978	C=0.944	T=0.056
1000Genomes	American	Sub	694	C=0.980	T=0.020
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9721	T=0.0279
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9580	T=0.0420
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9587	T=0.0413
HapMap	Global	Study-wide	1374	C=0.9738	T=0.0262
HapMap	American	Sub	600	C=0.972	T=0.028
HapMap	African	Sub	510	C=0.984	T=0.016
HapMap	Europe	Sub	176	C=0.938	T=0.062
HapMap	Asian	Sub	88	C=1.00	T=0.00
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.969	T=0.031
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.992	T=0.008
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.992	T=0.008
Northern Sweden	ACPOP	Study-wide	600	C=0.960	T=0.040
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.968	T=0.032
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.951	T=0.049
Qatari	Global	Study-wide	216	C=0.907	T=0.093
The Danish reference pan genome	Danish	Study-wide	40	C=0.95	T=0.05
SGDP_PRJ	Global	Study-wide	30	C=0.50	T=0.50
Siberian	Global	Study-wide	10	C=0.5	T=0.5

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 8	NC_000008.11:g.42731922C>T
GRCh37.p13 chr 8	NC_000008.10:g.42587065C>T

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.615C>T	N [AAC] > N [AAT]	Coding Sequence Variant
neuronal acetylcholine receptor subunit beta-3 isoform 1 precursor	NP_000740.1:p.Asn205=	N (Asn) > N (Asn)	Synonymous Variant
CHRNB3 transcript variant 2	NM_001347717.2:c.393C>T	N [AAC] > N [AAT]	Coding Sequence Variant
neuronal acetylcholine receptor subunit beta-3 isoform 2	NP_001334646.1:p.Asn131=	N (Asn) > N (Asn)	Synonymous Variant
CHRNB3 transcript variant X1	XM_011544390.3:c.228C>T	N [AAC] > N [AAT]	Coding Sequence Variant
neuronal acetylcholine receptor subunit beta-3 isoform X1	XP_011542692.1:p.Asn76=	N (Asn) > N (Asn)	Synonymous Variant

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

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	C=	T
GRCh38.p14 chr 8	NC_000008.11:g.42731922=	NC_000008.11:g.42731922C>T
GRCh37.p13 chr 8	NC_000008.10:g.42587065=	NC_000008.10:g.42587065C>T
CHRNB3 transcript variant 1	NM_000749.5:c.615=	NM_000749.5:c.615C>T
CHRNB3 transcript variant 1	NM_000749.4:c.615=	NM_000749.4:c.615C>T
CHRNB3 transcript	NM_000749.3:c.615=	NM_000749.3:c.615C>T
CHRNB3 transcript variant X1	XM_011544390.3:c.228=	XM_011544390.3:c.228C>T
CHRNB3 transcript variant X1	XM_011544390.2:c.228=	XM_011544390.2:c.228C>T
CHRNB3 transcript variant X1	XM_011544390.1:c.228=	XM_011544390.1:c.228C>T
CHRNB3 transcript variant 2	NM_001347717.2:c.393=	NM_001347717.2:c.393C>T
CHRNB3 transcript variant 2	NM_001347717.1:c.393=	NM_001347717.1:c.393C>T
neuronal acetylcholine receptor subunit beta-3 isoform 1 precursor	NP_000740.1:p.Asn205=	NP_000740.1:p.Asn205=
neuronal acetylcholine receptor subunit beta-3 isoform X1	XP_011542692.1:p.Asn76=	XP_011542692.1:p.Asn76=
neuronal acetylcholine receptor subunit beta-3 isoform 2	NP_001334646.1:p.Asn131=	NP_001334646.1:p.Asn131=

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#.

101 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	NYEP	ss6384	Sep 19, 2000 (52)
2	LEE	ss1528374	Oct 13, 2000 (92)
3	CSHL-HAPMAP	ss68404361	Jan 12, 2007 (127)
4	ILLUMINA	ss75137069	Dec 07, 2007 (129)
5	UUGC	ss76901675	Dec 07, 2007 (129)
6	BCMHGSC_JDW	ss93876502	Mar 25, 2008 (129)
7	KRIBB_YJKIM	ss119337491	Dec 01, 2009 (131)
8	ENSEMBL	ss143421643	Dec 01, 2009 (131)
9	ILLUMINA	ss160731740	Dec 01, 2009 (131)
10	PERLEGEN	ss161151692	Dec 01, 2009 (131)
11	ILLUMINA	ss173888650	Jul 04, 2010 (132)
12	1000GENOMES	ss234416088	Jul 15, 2010 (132)
13	NHLBI-ESP	ss342258041	May 09, 2011 (134)
14	ILLUMINA	ss481113018	May 04, 2012 (137)
15	ILLUMINA	ss481135016	May 04, 2012 (137)
16	ILLUMINA	ss482124907	Sep 08, 2015 (146)
17	ILLUMINA	ss485351569	May 04, 2012 (137)
18	1000GENOMES	ss490964544	May 04, 2012 (137)
19	CLINSEQ_SNP	ss491924631	May 04, 2012 (137)
20	ILLUMINA	ss537298042	Sep 08, 2015 (146)
21	ILLUMINA	ss778554264	Sep 08, 2015 (146)
22	ILLUMINA	ss783121511	Sep 08, 2015 (146)
23	ILLUMINA	ss784078275	Sep 08, 2015 (146)
24	ILLUMINA	ss832380297	Sep 08, 2015 (146)
25	ILLUMINA	ss834011034	Sep 08, 2015 (146)
26	EVA-GONL	ss985447332	Aug 21, 2014 (142)
27	JMKIDD_LAB	ss1067497455	Aug 21, 2014 (142)
28	1000GENOMES	ss1329585315	Aug 21, 2014 (142)
29	EVA_GENOME_DK	ss1582661025	Apr 01, 2015 (144)
30	EVA_FINRISK	ss1584058315	Apr 01, 2015 (144)
31	EVA_DECODE	ss1595044915	Apr 01, 2015 (144)
32	EVA_UK10K_ALSPAC	ss1620494789	Apr 01, 2015 (144)
33	EVA_UK10K_TWINSUK	ss1663488822	Apr 01, 2015 (144)
34	EVA_EXAC	ss1689184669	Apr 01, 2015 (144)
35	EVA_MGP	ss1711199968	Apr 01, 2015 (144)
36	EVA_SVP	ss1713033114	Apr 01, 2015 (144)
37	ILLUMINA	ss1752732676	Sep 08, 2015 (146)
38	WEILL_CORNELL_DGM	ss1928736673	Feb 12, 2016 (147)
39	ILLUMINA	ss1959106924	Feb 12, 2016 (147)
40	JJLAB	ss2025071281	Sep 14, 2016 (149)
41	USC_VALOUEV	ss2153293742	Dec 20, 2016 (150)
42	HUMAN_LONGEVITY	ss2302697630	Dec 20, 2016 (150)
43	ILLUMINA	ss2634741462	Nov 08, 2017 (151)
44	GNOMAD	ss2737136472	Nov 08, 2017 (151)
45	GNOMAD	ss2748042481	Nov 08, 2017 (151)
46	GNOMAD	ss2865988886	Nov 08, 2017 (151)
47	AFFY	ss2986081522	Nov 08, 2017 (151)
48	SWEGEN	ss3003068838	Nov 08, 2017 (151)
49	ILLUMINA	ss3022841309	Nov 08, 2017 (151)
50	CSHL	ss3348155034	Nov 08, 2017 (151)
51	ILLUMINA	ss3630049846	Oct 12, 2018 (152)
52	ILLUMINA	ss3632640797	Oct 12, 2018 (152)
53	ILLUMINA	ss3633499202	Oct 12, 2018 (152)
54	ILLUMINA	ss3634225926	Oct 12, 2018 (152)
55	ILLUMINA	ss3635169793	Oct 12, 2018 (152)
56	ILLUMINA	ss3635904758	Oct 12, 2018 (152)
57	ILLUMINA	ss3636907172	Oct 12, 2018 (152)
58	ILLUMINA	ss3637657926	Oct 12, 2018 (152)
59	ILLUMINA	ss3638757522	Oct 12, 2018 (152)
60	ILLUMINA	ss3640877083	Oct 12, 2018 (152)
61	ILLUMINA	ss3643688569	Oct 12, 2018 (152)
62	OMUKHERJEE_ADBS	ss3646374984	Oct 12, 2018 (152)
63	ILLUMINA	ss3653382985	Oct 12, 2018 (152)
64	EGCUT_WGS	ss3670763226	Jul 13, 2019 (153)
65	EVA_DECODE	ss3721891775	Jul 13, 2019 (153)
66	ILLUMINA	ss3726534006	Jul 13, 2019 (153)
67	ACPOP	ss3735611275	Jul 13, 2019 (153)
68	ILLUMINA	ss3745469666	Jul 13, 2019 (153)
69	EVA	ss3767922754	Jul 13, 2019 (153)
70	PAGE_CC	ss3771439500	Jul 13, 2019 (153)
71	ILLUMINA	ss3772962117	Jul 13, 2019 (153)
72	PACBIO	ss3786130731	Jul 13, 2019 (153)
73	PACBIO	ss3791389856	Jul 13, 2019 (153)
74	PACBIO	ss3796271147	Jul 13, 2019 (153)
75	KHV_HUMAN_GENOMES	ss3811083282	Jul 13, 2019 (153)
76	EVA	ss3824367525	Apr 26, 2020 (154)
77	EVA	ss3825740626	Apr 26, 2020 (154)
78	EVA	ss3831137767	Apr 26, 2020 (154)
79	SGDP_PRJ	ss3869788497	Apr 26, 2020 (154)
80	FSA-LAB	ss3984398584	Apr 26, 2021 (155)
81	EVA	ss3984604749	Apr 26, 2021 (155)
82	EVA	ss3986422241	Apr 26, 2021 (155)
83	EVA	ss4017388039	Apr 26, 2021 (155)
84	TOPMED	ss4783798456	Apr 26, 2021 (155)
85	EVA	ss5237042449	Apr 26, 2021 (155)
86	EVA	ss5237441110	Apr 26, 2021 (155)
87	1000G_HIGH_COVERAGE	ss5276913268	Oct 14, 2022 (156)
88	EVA	ss5380727278	Oct 14, 2022 (156)
89	HUGCELL_USP	ss5473512254	Oct 14, 2022 (156)
90	1000G_HIGH_COVERAGE	ss5567135753	Oct 14, 2022 (156)
91	SANFORD_IMAGENETICS	ss5624692547	Oct 14, 2022 (156)
92	SANFORD_IMAGENETICS	ss5645253269	Oct 14, 2022 (156)
93	EVA	ss5799754882	Oct 14, 2022 (156)
94	EVA	ss5830448039	Oct 14, 2022 (156)
95	EVA	ss5847338345	Oct 14, 2022 (156)
96	EVA	ss5848175378	Oct 14, 2022 (156)
97	EVA	ss5848706242	Oct 14, 2022 (156)
98	EVA	ss5888702001	Oct 14, 2022 (156)
99	EVA	ss5936538964	Oct 14, 2022 (156)
100	EVA	ss5974454096	Oct 14, 2022 (156)
101	EVA	ss5979861850	Oct 14, 2022 (156)
102	1000Genomes	NC_000008.10 - 42587065	Oct 12, 2018 (152)
103	1000Genomes_30x	NC_000008.11 - 42731922	Oct 14, 2022 (156)
104	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 42587065	Oct 12, 2018 (152)
105	Genetic variation in the Estonian population	NC_000008.10 - 42587065	Oct 12, 2018 (152)
106	ExAC	NC_000008.10 - 42587065	Oct 12, 2018 (152)
107	FINRISK	NC_000008.10 - 42587065	Apr 26, 2020 (154)
108	The Danish reference pan genome	NC_000008.10 - 42587065	Apr 26, 2020 (154)
109	gnomAD - Genomes	NC_000008.11 - 42731922	Apr 26, 2021 (155)
110	gnomAD - Exomes	NC_000008.10 - 42587065	Jul 13, 2019 (153)
111	GO Exome Sequencing Project	NC_000008.10 - 42587065	Oct 12, 2018 (152)
112	Genome of the Netherlands Release 5	NC_000008.10 - 42587065	Apr 26, 2020 (154)
113	HapMap	NC_000008.11 - 42731922	Apr 26, 2020 (154)
114	Medical Genome Project healthy controls from Spanish population	NC_000008.10 - 42587065	Apr 26, 2020 (154)
115	Northern Sweden	NC_000008.10 - 42587065	Jul 13, 2019 (153)
116	The PAGE Study	NC_000008.11 - 42731922	Jul 13, 2019 (153)
117	CNV burdens in cranial meningiomas	NC_000008.10 - 42587065	Apr 26, 2021 (155)
118	Qatari	NC_000008.10 - 42587065	Apr 26, 2020 (154)
119	SGDP_PRJ	NC_000008.10 - 42587065	Apr 26, 2020 (154)
120	Siberian	NC_000008.10 - 42587065	Apr 26, 2020 (154)
121	TopMed	NC_000008.11 - 42731922	Apr 26, 2021 (155)
122	UK 10K study - Twins	NC_000008.10 - 42587065	Oct 12, 2018 (152)
123	ALFA	NC_000008.11 - 42731922	Apr 26, 2021 (155)

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)
rs1132126	Jan 18, 2001 (92)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss93876502, ss481113018, ss491924631, ss1595044915, ss1713033114, ss3643688569	NC_000008.9:42706221:C:T	NC_000008.11:42731921:C:T	(self)
41702286, 23192463, 16501474, 9283752, 54776, 8825963, 6307991, 825372, 10357149, 315728, 8896140, 154187, 10778603, 21805477, 5810096, 23192463, ss234416088, ss342258041, ss481135016, ss482124907, ss485351569, ss490964544, ss537298042, ss778554264, ss783121511, ss784078275, ss832380297, ss834011034, ss985447332, ss1067497455, ss1329585315, ss1582661025, ss1584058315, ss1620494789, ss1663488822, ss1689184669, ss1711199968, ss1752732676, ss1928736673, ss1959106924, ss2025071281, ss2153293742, ss2634741462, ss2737136472, ss2748042481, ss2865988886, ss2986081522, ss3003068838, ss3022841309, ss3348155034, ss3630049846, ss3632640797, ss3633499202, ss3634225926, ss3635169793, ss3635904758, ss3636907172, ss3637657926, ss3638757522, ss3640877083, ss3646374984, ss3653382985, ss3670763226, ss3735611275, ss3745469666, ss3767922754, ss3772962117, ss3786130731, ss3791389856, ss3796271147, ss3824367525, ss3825740626, ss3831137767, ss3869788497, ss3984398584, ss3984604749, ss3986422241, ss4017388039, ss5237441110, ss5380727278, ss5624692547, ss5645253269, ss5799754882, ss5830448039, ss5847338345, ss5848175378, ss5848706242, ss5936538964, ss5974454096, ss5979861850	NC_000008.10:42587064:C:T	NC_000008.11:42731921:C:T	(self)
54661688, 294044408, 3613823, 660969, 621176016, 1723561351, ss2302697630, ss3721891775, ss3726534006, ss3771439500, ss3811083282, ss4783798456, ss5237042449, ss5276913268, ss5473512254, ss5567135753, ss5888702001	NC_000008.11:42731921:C:T	NC_000008.11:42731921:C:T	(self)
ss6384, ss1528374, ss68404361, ss75137069, ss76901675, ss119337491, ss143421643, ss160731740, ss161151692, ss173888650	NT_167187.1:30445210:C:T	NC_000008.11:42731921:C:T	(self)

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

11 citations for rs4952

PMID	Title	Author	Year	Journal
17135278	Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs.	Saccone SF et al.	2007	Human molecular genetics
18571741	Genetic variability in nicotinic acetylcholine receptors and nicotine addiction: converging evidence from human and animal research.	Portugal GS et al.	2008	Behavioural brain research
19029397	Nicotinic receptor gene variants influence susceptibility to heavy smoking.	Stevens VL et al.	2008	Cancer epidemiology, biomarkers & prevention
19760673	Association of CHRN genes with "dizziness" to tobacco.	Ehringer MA et al.	2010	American journal of medical genetics. Part B, Neuropsychiatric genetics
20418888	Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.	Thorgeirsson TE et al.	2010	Nature 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
21191315	Genetic association of bipolar disorder with the β(3) nicotinic receptor subunit gene.	Hartz SM et al.	2011	Psychiatric genetics
24401102	Multiple distinct CHRNB3-CHRNA6 variants are genetic risk factors for nicotine dependence in African Americans and European Americans.	Culverhouse RC et al.	2014	Addiction (Abingdon, England)
25036316	Joint association of nicotinic acetylcholine receptor variants with abdominal obesity in American Indians: the Strong Heart Family Study.	Zhu Y et al.	2014	PloS one
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

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

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Reference SNP (rs) Report

rs4952