Name: rs12914385
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.

rs12914385

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:78606381 (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>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.372228 (119725/321644, ALFA)
T=0.300861 (79635/264690, TOPMED)
T=0.23335 (18365/78700, PAGE_STUDY) (+ 20 more)
T=0.28604 (8008/27996, 14KJPN)
T=0.28944 (4851/16760, 8.3KJPN)
T=0.2528 (1619/6404, 1000G_30x)
T=0.2540 (1272/5008, 1000G)
T=0.3499 (1567/4478, Estonian)
T=0.3770 (1453/3854, ALSPAC)
T=0.3762 (1395/3708, TWINSUK)
T=0.1336 (437/3270, PRJNA289433)
T=0.2898 (849/2930, KOREAN)
T=0.2946 (614/2084, HGDP_Stanford)
T=0.2794 (527/1886, HapMap)
T=0.2800 (513/1832, Korea1K)
T=0.386 (385/998, GoNL)
T=0.272 (215/790, PRJEB37584)
T=0.358 (215/600, NorthernSweden)
C=0.401 (97/242, SGDP_PRJ)
T=0.407 (88/216, Qatari)
T=0.32 (18/56, Ancient Sardinia)
T=0.47 (19/40, GENOME_DK)
C=0.38 (10/26, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CHRNA3 : Intron Variant
Publications: 43 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	326680	C=0.628542	A=0.000000, T=0.371458	0.40008	0.142996	0.456924	32
European	Sub	288016	C=0.612501	A=0.000000, T=0.387499	0.377229	0.152228	0.470543	6
African	Sub	8586	C=0.8565	A=0.0000, T=0.1435	0.737713	0.024691	0.237596	3
African Others	Sub	346	C=0.882	A=0.000, T=0.118	0.786127	0.023121	0.190751	1
African American	Sub	8240	C=0.8555	A=0.0000, T=0.1445	0.73568	0.024757	0.239563	3
Asian	Sub	3884	C=0.7273	A=0.0000, T=0.2727	0.530381	0.075695	0.393924	0
East Asian	Sub	3150	C=0.7051	A=0.0000, T=0.2949	0.497778	0.087619	0.414603	0
Other Asian	Sub	734	C=0.823	A=0.000, T=0.177	0.6703	0.024523	0.305177	0
Latin American 1	Sub	1060	C=0.7236	A=0.0000, T=0.2764	0.533962	0.086792	0.379245	1
Latin American 2	Sub	6982	C=0.8098	A=0.0000, T=0.1902	0.661988	0.042395	0.295617	4
South Asian	Sub	5184	C=0.7404	A=0.0000, T=0.2596	0.551698	0.070988	0.377315	1
Other	Sub	12968	C=0.65423	A=0.00000, T=0.34577	0.432449	0.123998	0.443553	2

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
Allele Frequency Aggregator	Total	Global	321644	C=0.627772	A=0.000000, T=0.372228
Allele Frequency Aggregator	European	Sub	284922	C=0.612469	A=0.000000, T=0.387531
Allele Frequency Aggregator	Other	Sub	12168	C=0.65056	A=0.00000, T=0.34944
Allele Frequency Aggregator	African	Sub	7444	C=0.8615	A=0.0000, T=0.1385
Allele Frequency Aggregator	Latin American 2	Sub	6982	C=0.8098	A=0.0000, T=0.1902
Allele Frequency Aggregator	South Asian	Sub	5184	C=0.7404	A=0.0000, T=0.2596
Allele Frequency Aggregator	Asian	Sub	3884	C=0.7273	A=0.0000, T=0.2727
Allele Frequency Aggregator	Latin American 1	Sub	1060	C=0.7236	A=0.0000, T=0.2764
TopMed	Global	Study-wide	264690	C=0.699139	T=0.300861
The PAGE Study	Global	Study-wide	78700	C=0.76665	T=0.23335
The PAGE Study	AfricanAmerican	Sub	32516	C=0.80917	T=0.19083
The PAGE Study	Mexican	Sub	10810	C=0.79149	T=0.20851
The PAGE Study	Asian	Sub	8318	C=0.7005	T=0.2995
The PAGE Study	PuertoRican	Sub	7918	C=0.7186	T=0.2814
The PAGE Study	NativeHawaiian	Sub	4534	C=0.7358	T=0.2642
The PAGE Study	Cuban	Sub	4230	C=0.6570	T=0.3430
The PAGE Study	Dominican	Sub	3828	C=0.7179	T=0.2821
The PAGE Study	CentralAmerican	Sub	2450	C=0.8106	T=0.1894
The PAGE Study	SouthAmerican	Sub	1980	C=0.7808	T=0.2192
The PAGE Study	NativeAmerican	Sub	1260	C=0.7048	T=0.2952
The PAGE Study	SouthAsian	Sub	856	C=0.780	T=0.220
14KJPN	JAPANESE	Study-wide	27996	C=0.71396	T=0.28604
8.3KJPN	JAPANESE	Study-wide	16760	C=0.71056	T=0.28944
1000Genomes_30x	Global	Study-wide	6404	C=0.7472	T=0.2528
1000Genomes_30x	African	Sub	1786	C=0.8371	T=0.1629
1000Genomes_30x	Europe	Sub	1266	C=0.5829	T=0.4171
1000Genomes_30x	South Asian	Sub	1202	C=0.8020	T=0.1980
1000Genomes_30x	East Asian	Sub	1170	C=0.7145	T=0.2855
1000Genomes_30x	American	Sub	980	C=0.767	T=0.233
1000Genomes	Global	Study-wide	5008	C=0.7460	T=0.2540
1000Genomes	African	Sub	1322	C=0.8351	T=0.1649
1000Genomes	East Asian	Sub	1008	C=0.7113	T=0.2887
1000Genomes	Europe	Sub	1006	C=0.5954	T=0.4046
1000Genomes	South Asian	Sub	978	C=0.802	T=0.198
1000Genomes	American	Sub	694	C=0.767	T=0.233
Genetic variation in the Estonian population	Estonian	Study-wide	4478	C=0.6501	T=0.3499
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6230	T=0.3770
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6238	T=0.3762
MxGDAR/Encodat-PGx	Global	Study-wide	3270	C=0.8664	T=0.1336
MxGDAR/Encodat-PGx	MxGDAR	Sub	3270	C=0.8664	T=0.1336
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7102	G=0.0000, T=0.2898
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.7054	T=0.2946
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.740	T=0.260
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.667	T=0.333
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.574	T=0.426
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.616	T=0.384
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.731	T=0.269
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.935	T=0.065
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.96	T=0.04
HapMap	Global	Study-wide	1886	C=0.7206	T=0.2794
HapMap	American	Sub	770	C=0.703	T=0.297
HapMap	African	Sub	688	C=0.794	T=0.206
HapMap	Asian	Sub	252	C=0.710	T=0.290
HapMap	Europe	Sub	176	C=0.528	T=0.472
Korean Genome Project	KOREAN	Study-wide	1832	C=0.7200	T=0.2800
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.614	T=0.386
CNV burdens in cranial meningiomas	Global	Study-wide	790	C=0.728	T=0.272
CNV burdens in cranial meningiomas	CRM	Sub	790	C=0.728	T=0.272
Northern Sweden	ACPOP	Study-wide	600	C=0.642	T=0.358
SGDP_PRJ	Global	Study-wide	242	C=0.401	T=0.599
Qatari	Global	Study-wide	216	C=0.593	T=0.407
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	56	C=0.68	T=0.32
The Danish reference pan genome	Danish	Study-wide	40	C=0.53	T=0.47
Siberian	Global	Study-wide	26	C=0.38	T=0.62

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 15	NC_000015.10:g.78606381C>A
GRCh38.p14 chr 15	NC_000015.10:g.78606381C>G
GRCh38.p14 chr 15	NC_000015.10:g.78606381C>T
GRCh37.p13 chr 15	NC_000015.9:g.78898723C>A
GRCh37.p13 chr 15	NC_000015.9:g.78898723C>G
GRCh37.p13 chr 15	NC_000015.9:g.78898723C>T
CHRNA3 RefSeqGene	NG_016143.1:g.19915G>T
CHRNA3 RefSeqGene	NG_016143.1:g.19915G>C
CHRNA3 RefSeqGene	NG_016143.1:g.19915G>A

Gene: CHRNA3, cholinergic receptor nicotinic alpha 3 subunit (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CHRNA3 transcript variant 1	NM_000743.5:c.378-4117G>T	N/A	Intron Variant
CHRNA3 transcript variant 2	NM_001166694.2:c.378-4117… NM_001166694.2:c.378-4117G>T	N/A	Intron Variant
CHRNA3 transcript variant 3	NR_046313.2:n.	N/A	Intron Variant
CHRNA3 transcript variant X1	XM_006720382.4:c.177-4117… XM_006720382.4:c.177-4117G>T	N/A	Intron 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=	A	G	T
GRCh38.p14 chr 15	NC_000015.10:g.78606381=	NC_000015.10:g.78606381C>A	NC_000015.10:g.78606381C>G	NC_000015.10:g.78606381C>T
GRCh37.p13 chr 15	NC_000015.9:g.78898723=	NC_000015.9:g.78898723C>A	NC_000015.9:g.78898723C>G	NC_000015.9:g.78898723C>T
CHRNA3 RefSeqGene	NG_016143.1:g.19915=	NG_016143.1:g.19915G>T	NG_016143.1:g.19915G>C	NG_016143.1:g.19915G>A
CHRNA3 transcript variant 1	NM_000743.4:c.378-4117=	NM_000743.4:c.378-4117G>T	NM_000743.4:c.378-4117G>C	NM_000743.4:c.378-4117G>A
CHRNA3 transcript variant 1	NM_000743.5:c.378-4117=	NM_000743.5:c.378-4117G>T	NM_000743.5:c.378-4117G>C	NM_000743.5:c.378-4117G>A
CHRNA3 transcript variant 2	NM_001166694.1:c.378-4117=	NM_001166694.1:c.378-4117G>T	NM_001166694.1:c.378-4117G>C	NM_001166694.1:c.378-4117G>A
CHRNA3 transcript variant 2	NM_001166694.2:c.378-4117=	NM_001166694.2:c.378-4117G>T	NM_001166694.2:c.378-4117G>C	NM_001166694.2:c.378-4117G>A
CHRNA3 transcript variant X1	XM_006720382.4:c.177-4117=	XM_006720382.4:c.177-4117G>T	XM_006720382.4:c.177-4117G>C	XM_006720382.4:c.177-4117G>A

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#.

132 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSAHASNP	ss21288574	Apr 05, 2004 (121)
2	ABI	ss40569455	Mar 15, 2006 (126)
3	ILLUMINA	ss67046285	Dec 01, 2006 (127)
4	ILLUMINA	ss67371726	Dec 01, 2006 (127)
5	ILLUMINA	ss68141166	Dec 12, 2006 (127)
6	ILLUMINA	ss70588395	May 25, 2008 (130)
7	ILLUMINA	ss71131670	May 17, 2007 (127)
8	ILLUMINA	ss75487714	Dec 07, 2007 (129)
9	HGSV	ss77114231	Dec 07, 2007 (129)
10	KRIBB_YJKIM	ss85283551	Dec 15, 2007 (130)
11	HUMANGENOME_JCVI	ss96773846	Feb 05, 2009 (130)
12	BGI	ss103254303	Dec 01, 2009 (131)
13	1000GENOMES	ss108966844	Jan 23, 2009 (130)
14	ENSEMBL	ss136848940	Dec 01, 2009 (131)
15	ILLUMINA	ss153294791	Dec 01, 2009 (131)
16	GMI	ss156762862	Dec 01, 2009 (131)
17	ILLUMINA	ss159238674	Dec 01, 2009 (131)
18	ILLUMINA	ss160306488	Dec 01, 2009 (131)
19	ILLUMINA	ss172275888	Jul 04, 2010 (132)
20	BCM-HGSC-SUB	ss207330229	Jul 04, 2010 (132)
21	1000GENOMES	ss226987938	Jul 14, 2010 (132)
22	1000GENOMES	ss236845761	Jul 15, 2010 (132)
23	1000GENOMES	ss243220631	Jul 15, 2010 (132)
24	GMI	ss282327738	May 04, 2012 (137)
25	GMI	ss286987137	Apr 25, 2013 (138)
26	PJP	ss291757356	May 09, 2011 (134)
27	ILLUMINA	ss410902720	Sep 17, 2011 (135)
28	ILLUMINA	ss479840528	May 04, 2012 (137)
29	ILLUMINA	ss479847991	May 04, 2012 (137)
30	ILLUMINA	ss480442667	Sep 08, 2015 (146)
31	ILLUMINA	ss484718753	May 04, 2012 (137)
32	ILLUMINA	ss536821460	Sep 08, 2015 (146)
33	TISHKOFF	ss564593500	Apr 25, 2013 (138)
34	SSMP	ss660331006	Apr 25, 2013 (138)
35	ILLUMINA	ss778417842	Sep 08, 2015 (146)
36	ILLUMINA	ss782806099	Sep 08, 2015 (146)
37	ILLUMINA	ss783771480	Sep 08, 2015 (146)
38	ILLUMINA	ss832059206	Sep 08, 2015 (146)
39	ILLUMINA	ss832750996	Jul 13, 2019 (153)
40	ILLUMINA	ss833873182	Sep 08, 2015 (146)
41	EVA-GONL	ss991982022	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1080267037	Aug 21, 2014 (142)
43	1000GENOMES	ss1354231444	Aug 21, 2014 (142)
44	DDI	ss1427685777	Apr 01, 2015 (144)
45	EVA_GENOME_DK	ss1577713215	Apr 01, 2015 (144)
46	EVA_UK10K_ALSPAC	ss1633409737	Apr 01, 2015 (144)
47	EVA_UK10K_TWINSUK	ss1676403770	Apr 01, 2015 (144)
48	EVA_SVP	ss1713504260	Apr 01, 2015 (144)
49	ILLUMINA	ss1752172493	Sep 08, 2015 (146)
50	HAMMER_LAB	ss1808288177	Sep 08, 2015 (146)
51	WEILL_CORNELL_DGM	ss1935385162	Feb 12, 2016 (147)
52	ILLUMINA	ss1946399442	Feb 12, 2016 (147)
53	ILLUMINA	ss1959628692	Feb 12, 2016 (147)
54	GENOMED	ss1968152668	Jul 19, 2016 (147)
55	JJLAB	ss2028474153	Sep 14, 2016 (149)
56	USC_VALOUEV	ss2156882707	Dec 20, 2016 (150)
57	HUMAN_LONGEVITY	ss2208362647	Dec 20, 2016 (150)
58	SYSTEMSBIOZJU	ss2628732225	Nov 08, 2017 (151)
59	ILLUMINA	ss2633253986	Nov 08, 2017 (151)
60	ILLUMINA	ss2633253987	Nov 08, 2017 (151)
61	ILLUMINA	ss2633253988	Nov 08, 2017 (151)
62	ILLUMINA	ss2635059731	Nov 08, 2017 (151)
63	GRF	ss2701363309	Nov 08, 2017 (151)
64	ILLUMINA	ss2710821058	Nov 08, 2017 (151)
65	GNOMAD	ss2937111070	Nov 08, 2017 (151)
66	AFFY	ss2985683980	Nov 08, 2017 (151)
67	SWEGEN	ss3013594123	Nov 08, 2017 (151)
68	ILLUMINA	ss3021651915	Nov 08, 2017 (151)
69	BIOINF_KMB_FNS_UNIBA	ss3028061349	Nov 08, 2017 (151)
70	CSHL	ss3351199677	Nov 08, 2017 (151)
71	ILLUMINA	ss3625678990	Oct 12, 2018 (152)
72	ILLUMINA	ss3627406777	Oct 12, 2018 (152)
73	ILLUMINA	ss3631245088	Oct 12, 2018 (152)
74	ILLUMINA	ss3633103686	Oct 12, 2018 (152)
75	ILLUMINA	ss3633808615	Oct 12, 2018 (152)
76	ILLUMINA	ss3634616133	Oct 12, 2018 (152)
77	ILLUMINA	ss3635497385	Oct 12, 2018 (152)
78	ILLUMINA	ss3636306550	Oct 12, 2018 (152)
79	ILLUMINA	ss3637248697	Oct 12, 2018 (152)
80	ILLUMINA	ss3638097040	Oct 12, 2018 (152)
81	ILLUMINA	ss3639061036	Oct 12, 2018 (152)
82	ILLUMINA	ss3639839704	Oct 12, 2018 (152)
83	ILLUMINA	ss3640323454	Oct 12, 2018 (152)
84	ILLUMINA	ss3641063247	Oct 12, 2018 (152)
85	ILLUMINA	ss3641358656	Oct 12, 2018 (152)
86	ILLUMINA	ss3643080482	Oct 12, 2018 (152)
87	ILLUMINA	ss3643889749	Oct 12, 2018 (152)
88	ILLUMINA	ss3644652557	Oct 12, 2018 (152)
89	URBANLAB	ss3650397578	Oct 12, 2018 (152)
90	ILLUMINA	ss3652053686	Oct 12, 2018 (152)
91	EGCUT_WGS	ss3680735495	Jul 13, 2019 (153)
92	EVA_DECODE	ss3698269953	Jul 13, 2019 (153)
93	ILLUMINA	ss3725516558	Jul 13, 2019 (153)
94	ACPOP	ss3741087629	Jul 13, 2019 (153)
95	ILLUMINA	ss3744133840	Jul 13, 2019 (153)
96	ILLUMINA	ss3744423411	Jul 13, 2019 (153)
97	ILLUMINA	ss3744916655	Jul 13, 2019 (153)
98	EVA	ss3753326036	Jul 13, 2019 (153)
99	PAGE_CC	ss3771843529	Jul 13, 2019 (153)
100	ILLUMINA	ss3772415202	Jul 13, 2019 (153)
101	KHV_HUMAN_GENOMES	ss3818629986	Jul 13, 2019 (153)
102	EVA	ss3834329342	Apr 27, 2020 (154)
103	EVA	ss3840764292	Apr 27, 2020 (154)
104	EVA	ss3846254281	Apr 27, 2020 (154)
105	HGDP	ss3847529766	Apr 27, 2020 (154)
106	SGDP_PRJ	ss3883314370	Apr 27, 2020 (154)
107	KRGDB	ss3932543619	Apr 27, 2020 (154)
108	KOGIC	ss3976541557	Apr 27, 2020 (154)
109	EVA	ss3984450118	Apr 27, 2021 (155)
110	EVA	ss3984704409	Apr 27, 2021 (155)
111	EVA	ss3985728213	Apr 27, 2021 (155)
112	TOPMED	ss4998156886	Apr 27, 2021 (155)
113	TOMMO_GENOMICS	ss5217094995	Apr 27, 2021 (155)
114	EVA	ss5237554262	Apr 27, 2021 (155)
115	1000G_HIGH_COVERAGE	ss5299113975	Oct 16, 2022 (156)
116	EVA	ss5315798764	Oct 16, 2022 (156)
117	EVA	ss5420470465	Oct 16, 2022 (156)
118	HUGCELL_USP	ss5492771758	Oct 16, 2022 (156)
119	EVA	ss5511491031	Oct 16, 2022 (156)
120	1000G_HIGH_COVERAGE	ss5600853422	Oct 16, 2022 (156)
121	SANFORD_IMAGENETICS	ss5624365879	Oct 16, 2022 (156)
122	SANFORD_IMAGENETICS	ss5657887492	Oct 16, 2022 (156)
123	TOMMO_GENOMICS	ss5771171329	Oct 16, 2022 (156)
124	EVA	ss5799943164	Oct 16, 2022 (156)
125	YY_MCH	ss5815502297	Oct 16, 2022 (156)
126	EVA	ss5828461672	Oct 16, 2022 (156)
127	EVA	ss5847452339	Oct 16, 2022 (156)
128	EVA	ss5847750817	Oct 16, 2022 (156)
129	EVA	ss5851370584	Oct 16, 2022 (156)
130	EVA	ss5876652088	Oct 16, 2022 (156)
131	EVA	ss5949305704	Oct 16, 2022 (156)
132	EVA	ss5979467714	Oct 16, 2022 (156)
133	1000Genomes	NC_000015.9 - 78898723	Oct 12, 2018 (152)
134	1000Genomes_30x	NC_000015.10 - 78606381	Oct 16, 2022 (156)
135	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 78898723	Oct 12, 2018 (152)
136	Genetic variation in the Estonian population	NC_000015.9 - 78898723	Oct 12, 2018 (152)
137	The Danish reference pan genome	NC_000015.9 - 78898723	Apr 27, 2020 (154)
138	gnomAD - Genomes Submission ignored due to conflicting rows: Row 474712010 (NC_000015.10:78606380:C:A 4/136688) Row 474712011 (NC_000015.10:78606380:C:T 42446/136376)	-	Apr 27, 2021 (155)
139	gnomAD - Genomes Submission ignored due to conflicting rows: Row 474712010 (NC_000015.10:78606380:C:A 4/136688) Row 474712011 (NC_000015.10:78606380:C:T 42446/136376)	-	Apr 27, 2021 (155)
140	Genome of the Netherlands Release 5	NC_000015.9 - 78898723	Apr 27, 2020 (154)
141	HGDP-CEPH-db Supplement 1	NC_000015.8 - 76685778	Apr 27, 2020 (154)
142	HapMap	NC_000015.10 - 78606381	Apr 27, 2020 (154)
143	KOREAN population from KRGDB	NC_000015.9 - 78898723	Apr 27, 2020 (154)
144	Korean Genome Project	NC_000015.10 - 78606381	Apr 27, 2020 (154)
145	Northern Sweden	NC_000015.9 - 78898723	Jul 13, 2019 (153)
146	The PAGE Study	NC_000015.10 - 78606381	Jul 13, 2019 (153)
147	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000015.9 - 78898723	Apr 27, 2021 (155)
148	CNV burdens in cranial meningiomas	NC_000015.9 - 78898723	Apr 27, 2021 (155)
149	MxGDAR/Encodat-PGx	NC_000015.9 - 78898723	Apr 27, 2021 (155)
150	Qatari	NC_000015.9 - 78898723	Apr 27, 2020 (154)
151	SGDP_PRJ	NC_000015.9 - 78898723	Apr 27, 2020 (154)
152	Siberian	NC_000015.9 - 78898723	Apr 27, 2020 (154)
153	8.3KJPN	NC_000015.9 - 78898723	Apr 27, 2021 (155)
154	14KJPN	NC_000015.10 - 78606381	Oct 16, 2022 (156)
155	TopMed	NC_000015.10 - 78606381	Apr 27, 2021 (155)
156	UK 10K study - Twins	NC_000015.9 - 78898723	Oct 12, 2018 (152)
157	ALFA	NC_000015.10 - 78606381	Apr 27, 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)
rs59251142	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss2937111070	NC_000015.9:78898722:C:A	NC_000015.10:78606380:C:A	(self)
3212553859, ss2208362647	NC_000015.10:78606380:C:A	NC_000015.10:78606380:C:A	(self)
39721013, ss3932543619	NC_000015.9:78898722:C:G	NC_000015.10:78606380:C:G	(self)
207658, ss77114231, ss108966844, ss207330229, ss282327738, ss286987137, ss291757356, ss479840528, ss1713504260, ss2635059731, ss3639061036, ss3639839704, ss3643080482, ss3643889749, ss3847529766	NC_000015.8:76685777:C:T	NC_000015.10:78606380:C:T	(self)
67330772, 37390037, 26473743, 3933796, 16684449, 39721013, 14372494, 954140, 253934, 3119, 17427092, 35331350, 9399061, 75064302, 37390037, ss226987938, ss236845761, ss243220631, ss479847991, ss480442667, ss484718753, ss536821460, ss564593500, ss660331006, ss778417842, ss782806099, ss783771480, ss832059206, ss832750996, ss833873182, ss991982022, ss1080267037, ss1354231444, ss1427685777, ss1577713215, ss1633409737, ss1676403770, ss1752172493, ss1808288177, ss1935385162, ss1946399442, ss1959628692, ss1968152668, ss2028474153, ss2156882707, ss2628732225, ss2633253986, ss2633253987, ss2633253988, ss2701363309, ss2710821058, ss2937111070, ss2985683980, ss3013594123, ss3021651915, ss3351199677, ss3625678990, ss3627406777, ss3631245088, ss3633103686, ss3633808615, ss3634616133, ss3635497385, ss3636306550, ss3637248697, ss3638097040, ss3640323454, ss3641063247, ss3641358656, ss3644652557, ss3652053686, ss3680735495, ss3741087629, ss3744133840, ss3744423411, ss3744916655, ss3753326036, ss3772415202, ss3834329342, ss3840764292, ss3883314370, ss3932543619, ss3984450118, ss3984704409, ss3985728213, ss5217094995, ss5237554262, ss5315798764, ss5420470465, ss5511491031, ss5624365879, ss5657887492, ss5799943164, ss5828461672, ss5847452339, ss5847750817, ss5949305704, ss5979467714	NC_000015.9:78898722:C:T	NC_000015.10:78606380:C:T	(self)
88379357, 1299230, 32919558, 1064998, 105008433, 213702546, 3212553859, ss2208362647, ss3028061349, ss3650397578, ss3698269953, ss3725516558, ss3771843529, ss3818629986, ss3846254281, ss3976541557, ss4998156886, ss5299113975, ss5492771758, ss5600853422, ss5771171329, ss5815502297, ss5851370584, ss5876652088	NC_000015.10:78606380:C:T	NC_000015.10:78606380:C:T	(self)
ss21288574	NT_010194.16:49689042:C:T	NC_000015.10:78606380:C:T	(self)
ss40569455, ss67046285, ss67371726, ss68141166, ss70588395, ss71131670, ss75487714, ss85283551, ss96773846, ss103254303, ss136848940, ss153294791, ss156762862, ss159238674, ss160306488, ss172275888, ss410902720	NT_010194.17:49689279:C:T	NC_000015.10:78606380:C:T	(self)

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

43 citations for rs12914385

PMID	Title	Author	Year	Journal
18759969	In search of causal variants: refining disease association signals using cross-population contrasts.	Saccone NL et al.	2008	BMC genetics
19247474	Genome-wide and candidate gene association study of cigarette smoking behaviors.	Caporaso N et al.	2009	PloS one
19628476	Association of serum cotinine level with a cluster of three nicotinic acetylcholine receptor genes (CHRNA3/CHRNA5/CHRNB4) on chromosome 15.	Keskitalo K et al.	2009	Human molecular genetics
19654303	Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.	Broderick P et al.	2009	Cancer research
19836008	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Landi MT et al.	2009	American journal of human genetics
19859904	Association and interaction analysis of variants in CHRNA5/CHRNA3/CHRNB4 gene cluster with nicotine dependence in African and European Americans.	Li MD et al.	2010	American journal of medical genetics. Part B, Neuropsychiatric genetics
19955392	Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers.	Wang Y et al.	2010	Carcinogenesis
20418890	Genome-wide meta-analyses identify multiple loci associated with smoking behavior.		2010	Nature genetics
20485328	Variation in nicotinic acetylcholine receptor genes is associated with multiple substance dependence phenotypes.	Sherva R et al.	2010	Neuropsychopharmacology
20548021	Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium.	Truong T et al.	2010	Journal of the National Cancer Institute
20554942	Nicotinic acetylcholine receptor region on chromosome 15q25 and lung cancer risk among African Americans: a case-control study.	Amos CI et al.	2010	Journal of the National Cancer Institute
20585100	Genome-wide association studies of cancer.	Stadler ZK et al.	2010	Journal of clinical oncology
20808433	Associations of variants in CHRNA5/A3/B4 gene cluster with smoking behaviors in a Korean population.	Li MD et al.	2010	PloS one
21436384	Genetic variability of smoking persistence in African Americans.	Hamidovic A et al.	2011	Cancer prevention research (Philadelphia, Pa.)
21559498	Chromosome 15q25 (CHRNA3-CHRNA5) variation impacts indirectly on lung cancer risk.	Wang Y et al.	2011	PloS one
21808284	Gender-stratified gene and gene-treatment interactions in smoking cessation.	Lee W et al.	2012	The pharmacogenomics journal
21921092	Identification of FGF7 as a novel susceptibility locus for chronic obstructive pulmonary disease.	Brehm JM et al.	2011	Thorax
21949713	Genetics of sputum gene expression in chronic obstructive pulmonary disease.	Qiu W et al.	2011	PloS one
22074863	N-acetyltransferase 2 polymorphisms, tobacco smoking, and breast cancer risk in the breast and prostate cancer cohort consortium.	Cox DG et al.	2011	American journal of epidemiology
22290489	Pharmacogenetics of smoking cessation: role of nicotine target and metabolism genes.	Gold AB et al.	2012	Human genetics
22291610	A flexible Bayesian model for studying gene-environment interaction.	Yu K et al.	2012	PLoS genetics
22430809	Association between a genome-wide association study-identified locus and the risk of lung cancer in Japanese population.	Ito H et al.	2012	Journal of thoracic oncology
22945651	Epigenetic screen identifies genotype-specific promoter DNA methylation and oncogenic potential of CHRNB4.	Scherf DB et al.	2013	Oncogene
23094028	Genetic association analysis of complex diseases incorporating intermediate phenotype information.	Li Y et al.	2012	PloS one
23689675	Genetic risk for nicotine dependence in the cholinergic system and activation of the brain reward system in healthy adolescents.	Nees F et al.	2013	Neuropsychopharmacology
23701534	Genetic instrumental variable studies of effects of prenatal risk factors.	Wehby GL et al.	2013	Biodemography and social biology
23870182	Bridging the clinical gaps: genetic, epigenetic and transcriptomic biomarkers for the early detection of lung cancer in the post-National Lung Screening Trial era.	Brothers JF et al.	2013	BMC medicine
24686516	CHRNA3 polymorphism modifies lung adenocarcinoma risk in the Chinese Han population.	He P et al.	2014	International journal of molecular sciences
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
25233467	Role of nicotine dependence on the relationship between variants in the nicotinic receptor genes and risk of lung adenocarcinoma.	Tseng TS et al.	2014	PloS one
25656608	CHRNA3 genetic polymorphism and the risk of lung cancer in the Chinese Han smoking population.	Zhou W et al.	2015	Tumour biology
26831765	Association between two CHRNA3 variants and susceptibility of lung cancer: a meta-analysis.	Qu X et al.	2016	Scientific reports
26942719	Chromosome 15q25 (CHRNA3-CHRNB4) Variation Indirectly Impacts Lung Cancer Risk in Chinese Males.	Zhang Y et al.	2016	PloS one
26948517	Genetic scores of smoking behaviour in a Chinese population.	Yang S et al.	2016	Scientific reports
27099524	Natural killer cells and single nucleotide polymorphisms of specific ion channels and receptor genes in myalgic encephalomyelitis/chronic fatigue syndrome.	Marshall-Gradisnik S et al.	2016	The application of clinical genetics
27294413	Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.	Srivastava AK et al.	2016	Human genomics
27694844	An Adaptive Fisher's Combination Method for Joint Analysis of Multiple Phenotypes in Association Studies.	Liang X et al.	2016	Scientific reports
28827732	Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.	Wang J et al.	2017	Scientific reports
29422661	Understanding the role of the chromosome 15q25.1 in COPD through epigenetics and transcriptomics.	Nedeljkovic I et al.	2018	European journal of human genetics
29631575	The genetics of smoking in individuals with chronic obstructive pulmonary disease.	Obeidat M et al.	2018	Respiratory research
29688369	The SNPcurator: literature mining of enriched SNP-disease associations.	Tawfik NS et al.	2018	Database
29879020	Association analysis of CHRNA3 polymorphisms with schizophrenia in a Chinese Han population: A case-control study.	Li G et al.	2018	Medicine
31061854	Data on genotype frequency for SNPs associated to age of smoking onset and successful smoking cessation treatment.	Pérez-Rubio G et al.	2019	Data in brief

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs12914385