Name: rs569207
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.

rs569207

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:78580777 (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>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.301640 (79841/264690, TOPMED)
T=0.339468 (80363/236732, GnomAD_exome)
T=0.278923 (38984/139766, GnomAD) (+ 26 more)
T=0.332169 (37571/113108, ExAC)
T=0.39150 (30810/78698, PAGE_STUDY)
T=0.25806 (13009/50410, ALFA)
C=0.46758 (13213/28258, 14KJPN)
C=0.46271 (7755/16760, 8.3KJPN)
T=0.24206 (3141/12976, GO-ESP)
T=0.3930 (2517/6404, 1000G_30x)
T=0.3946 (1976/5008, 1000G)
T=0.2554 (1144/4480, Estonian)
T=0.2302 (887/3854, ALSPAC)
T=0.2228 (826/3708, TWINSUK)
T=0.4942 (1448/2930, KOREAN)
T=0.3633 (686/1888, HapMap)
C=0.4885 (895/1832, Korea1K)
T=0.3466 (391/1128, Daghestan)
T=0.235 (235/998, GoNL)
T=0.432 (338/782, PRJEB37584)
T=0.430 (259/602, Vietnamese)
T=0.253 (152/600, NorthernSweden)
T=0.230 (123/534, MGP)
C=0.296 (107/362, SGDP_PRJ)
T=0.331 (100/302, FINRISK)
T=0.269 (58/216, Qatari)
T=0.25 (10/40, GENOME_DK)
T=0.07 (2/30, Ancient Sardinia)
C=0.32 (7/22, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CHRNA5 : Intron Variant
Publications: 21 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	50504	C=0.74210	G=0.00000, T=0.25790
European	Sub	32856	C=0.77106	G=0.00000, T=0.22894
African	Sub	8518	C=0.7276	G=0.0000, T=0.2724
African Others	Sub	240	C=0.729	G=0.000, T=0.271
African American	Sub	8278	C=0.7276	G=0.0000, T=0.2724
Asian	Sub	282	C=0.557	G=0.000, T=0.443
East Asian	Sub	190	C=0.553	G=0.000, T=0.447
Other Asian	Sub	92	C=0.57	G=0.00, T=0.43
Latin American 1	Sub	276	C=0.663	G=0.000, T=0.337
Latin American 2	Sub	1998	C=0.4384	G=0.0000, T=0.5616
South Asian	Sub	134	C=0.530	G=0.000, T=0.470
Other	Sub	6440	C=0.7236	G=0.0000, T=0.2764

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	C=0.698360	T=0.301640
gnomAD - Exomes	Global	Study-wide	236732	C=0.660532	T=0.339468
gnomAD - Exomes	European	Sub	128642	C=0.761003	T=0.238997
gnomAD - Exomes	Asian	Sub	45740	C=0.55009	T=0.44991
gnomAD - Exomes	American	Sub	31866	C=0.35499	T=0.64501
gnomAD - Exomes	African	Sub	15826	C=0.71041	T=0.28959
gnomAD - Exomes	Ashkenazi Jewish	Sub	8924	C=0.7642	T=0.2358
gnomAD - Exomes	Other	Sub	5734	C=0.6864	T=0.3136
gnomAD - Genomes	Global	Study-wide	139766	C=0.721077	T=0.278923
gnomAD - Genomes	European	Sub	75730	C=0.76522	T=0.23478
gnomAD - Genomes	African	Sub	41838	C=0.71502	T=0.28498
gnomAD - Genomes	American	Sub	13612	C=0.52263	T=0.47737
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.7861	T=0.2139
gnomAD - Genomes	East Asian	Sub	3118	C=0.5430	T=0.4570
gnomAD - Genomes	Other	Sub	2148	C=0.6983	T=0.3017
ExAC	Global	Study-wide	113108	C=0.667831	T=0.332169
ExAC	Europe	Sub	69092	C=0.76010	T=0.23990
ExAC	Asian	Sub	22068	C=0.53408	T=0.46592
ExAC	American	Sub	11126	C=0.32114	T=0.67886
ExAC	African	Sub	9966	C=0.7103	T=0.2897
ExAC	Other	Sub	856	C=0.680	T=0.320
The PAGE Study	Global	Study-wide	78698	C=0.60850	T=0.39150
The PAGE Study	AfricanAmerican	Sub	32516	C=0.71088	T=0.28912
The PAGE Study	Mexican	Sub	10810	C=0.39824	T=0.60176
The PAGE Study	Asian	Sub	8318	C=0.4781	T=0.5219
The PAGE Study	PuertoRican	Sub	7914	C=0.6376	T=0.3624
The PAGE Study	NativeHawaiian	Sub	4534	C=0.6061	T=0.3939
The PAGE Study	Cuban	Sub	4230	C=0.7080	T=0.2920
The PAGE Study	Dominican	Sub	3828	C=0.6784	T=0.3216
The PAGE Study	CentralAmerican	Sub	2450	C=0.4090	T=0.5910
The PAGE Study	SouthAmerican	Sub	1982	C=0.4183	T=0.5817
The PAGE Study	NativeAmerican	Sub	1260	C=0.6278	T=0.3722
The PAGE Study	SouthAsian	Sub	856	C=0.564	T=0.436
Allele Frequency Aggregator	Total	Global	50410	C=0.74194	G=0.00000, T=0.25806
Allele Frequency Aggregator	European	Sub	32780	C=0.77096	G=0.00000, T=0.22904
Allele Frequency Aggregator	African	Sub	8518	C=0.7276	G=0.0000, T=0.2724
Allele Frequency Aggregator	Other	Sub	6422	C=0.7231	G=0.0000, T=0.2769
Allele Frequency Aggregator	Latin American 2	Sub	1998	C=0.4384	G=0.0000, T=0.5616
Allele Frequency Aggregator	Asian	Sub	282	C=0.557	G=0.000, T=0.443
Allele Frequency Aggregator	Latin American 1	Sub	276	C=0.663	G=0.000, T=0.337
Allele Frequency Aggregator	South Asian	Sub	134	C=0.530	G=0.000, T=0.470
14KJPN	JAPANESE	Study-wide	28258	C=0.46758	T=0.53242
8.3KJPN	JAPANESE	Study-wide	16760	C=0.46271	T=0.53729
GO Exome Sequencing Project	Global	Study-wide	12976	C=0.75794	T=0.24206
GO Exome Sequencing Project	European American	Sub	8584	C=0.7767	T=0.2233
GO Exome Sequencing Project	African American	Sub	4392	C=0.7213	T=0.2787
1000Genomes_30x	Global	Study-wide	6404	C=0.6070	T=0.3930
1000Genomes_30x	African	Sub	1786	C=0.6831	T=0.3169
1000Genomes_30x	Europe	Sub	1266	C=0.7622	T=0.2378
1000Genomes_30x	South Asian	Sub	1202	C=0.5499	T=0.4501
1000Genomes_30x	East Asian	Sub	1170	C=0.5265	T=0.4735
1000Genomes_30x	American	Sub	980	C=0.434	T=0.566
1000Genomes	Global	Study-wide	5008	C=0.6054	T=0.3946
1000Genomes	African	Sub	1322	C=0.6838	T=0.3162
1000Genomes	East Asian	Sub	1008	C=0.5188	T=0.4812
1000Genomes	Europe	Sub	1006	C=0.7555	T=0.2445
1000Genomes	South Asian	Sub	978	C=0.552	T=0.448
1000Genomes	American	Sub	694	C=0.439	T=0.561
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.7446	T=0.2554
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.7698	T=0.2302
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.7772	T=0.2228
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.5058	T=0.4942
HapMap	Global	Study-wide	1888	C=0.6367	T=0.3633
HapMap	American	Sub	770	C=0.616	T=0.384
HapMap	African	Sub	690	C=0.680	T=0.320
HapMap	Asian	Sub	252	C=0.492	T=0.508
HapMap	Europe	Sub	176	C=0.767	T=0.233
Korean Genome Project	KOREAN	Study-wide	1832	C=0.4885	T=0.5115
Genome-wide autozygosity in Daghestan	Global	Study-wide	1128	C=0.6534	T=0.3466
Genome-wide autozygosity in Daghestan	Daghestan	Sub	624	C=0.649	T=0.351
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.757	T=0.243
Genome-wide autozygosity in Daghestan	Central Asia	Sub	118	C=0.610	T=0.390
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.731	T=0.269
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.46	T=0.54
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.75	T=0.25
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.765	T=0.235
CNV burdens in cranial meningiomas	Global	Study-wide	782	C=0.568	T=0.432
CNV burdens in cranial meningiomas	CRM	Sub	782	C=0.568	T=0.432
A Vietnamese Genetic Variation Database	Global	Study-wide	602	C=0.570	T=0.430
Northern Sweden	ACPOP	Study-wide	600	C=0.747	T=0.253
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.770	T=0.230
SGDP_PRJ	Global	Study-wide	362	C=0.296	T=0.704
FINRISK	Finnish from FINRISK project	Study-wide	302	C=0.669	T=0.331
Qatari	Global	Study-wide	216	C=0.731	T=0.269
The Danish reference pan genome	Danish	Study-wide	40	C=0.75	T=0.25
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	30	C=0.93	T=0.07
Siberian	Global	Study-wide	22	C=0.32	T=0.68

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.78580777C>G
GRCh38.p14 chr 15	NC_000015.10:g.78580777C>T
GRCh37.p13 chr 15	NC_000015.9:g.78873119C>G
GRCh37.p13 chr 15	NC_000015.9:g.78873119C>T
CHRNA5 RefSeqGene	NG_023328.1:g.20258C>G
CHRNA5 RefSeqGene	NG_023328.1:g.20258C>T

Gene: CHRNA5, cholinergic receptor nicotinic alpha 5 subunit (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CHRNA5 transcript variant 1	NM_000745.4:c.107-34C>G	N/A	Intron Variant
CHRNA5 transcript variant 2	NM_001307945.2:c.107-34C>G	N/A	Intron Variant
CHRNA5 transcript variant 3	NM_001395171.1:c.107-34C>G	N/A	Intron Variant
CHRNA5 transcript variant 4	NM_001395172.1:c.107-34C>G	N/A	Intron Variant
CHRNA5 transcript variant 5	NM_001395173.1:c.107-34C>G	N/A	Intron Variant
CHRNA5 transcript variant 6	NM_001395174.1:c.107-34C>G	N/A	Intron Variant
CHRNA5 transcript variant 7	NM_001395175.1:c.107-34C>G	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=	G	T
GRCh38.p14 chr 15	NC_000015.10:g.78580777=	NC_000015.10:g.78580777C>G	NC_000015.10:g.78580777C>T
GRCh37.p13 chr 15	NC_000015.9:g.78873119=	NC_000015.9:g.78873119C>G	NC_000015.9:g.78873119C>T
CHRNA5 RefSeqGene	NG_023328.1:g.20258=	NG_023328.1:g.20258C>G	NG_023328.1:g.20258C>T
CHRNA5 transcript variant 1	NM_000745.3:c.107-34=	NM_000745.3:c.107-34C>G	NM_000745.3:c.107-34C>T
CHRNA5 transcript variant 1	NM_000745.4:c.107-34=	NM_000745.4:c.107-34C>G	NM_000745.4:c.107-34C>T
CHRNA5 transcript variant 2	NM_001307945.2:c.107-34=	NM_001307945.2:c.107-34C>G	NM_001307945.2:c.107-34C>T
CHRNA5 transcript variant 3	NM_001395171.1:c.107-34=	NM_001395171.1:c.107-34C>G	NM_001395171.1:c.107-34C>T
CHRNA5 transcript variant 4	NM_001395172.1:c.107-34=	NM_001395172.1:c.107-34C>G	NM_001395172.1:c.107-34C>T
CHRNA5 transcript variant 5	NM_001395173.1:c.107-34=	NM_001395173.1:c.107-34C>G	NM_001395173.1:c.107-34C>T
CHRNA5 transcript variant 6	NM_001395174.1:c.107-34=	NM_001395174.1:c.107-34C>G	NM_001395174.1:c.107-34C>T
CHRNA5 transcript variant 7	NM_001395175.1:c.107-34=	NM_001395175.1:c.107-34C>G	NM_001395175.1:c.107-34C>T
CHRNA5 transcript variant X1	XM_005254142.1:c.107-34=	XM_005254142.1:c.107-34C>G	XM_005254142.1:c.107-34C>T

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#.

120 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss740497	Aug 11, 2000 (83)
2	WI_SSAHASNP	ss6752019	Feb 20, 2003 (111)
3	PERLEGEN	ss24005989	Sep 20, 2004 (123)
4	ILLUMINA	ss65752451	Oct 16, 2006 (127)
5	TAPPERS	ss69371813	May 18, 2007 (127)
6	ILLUMINA	ss74969628	Dec 06, 2007 (129)
7	AFFY	ss76849962	Dec 06, 2007 (129)
8	UUGC	ss76901610	Dec 06, 2007 (129)
9	HGSV	ss78385089	Dec 06, 2007 (129)
10	BCMHGSC_JDW	ss90221253	Mar 24, 2008 (129)
11	CNG	ss98339060	Feb 05, 2009 (130)
12	SHGC	ss99307504	Feb 05, 2009 (130)
13	BGI	ss103254289	Dec 01, 2009 (131)
14	1000GENOMES	ss108966694	Jan 23, 2009 (130)
15	KRIBB_YJKIM	ss119358514	Dec 01, 2009 (131)
16	ENSEMBL	ss136444862	Dec 01, 2009 (131)
17	ILLUMINA	ss161052402	Dec 01, 2009 (131)
18	PERLEGEN	ss161151775	Dec 01, 2009 (131)
19	ILLUMINA	ss173924278	Jul 04, 2010 (132)
20	BUSHMAN	ss201066630	Jul 04, 2010 (132)
21	1000GENOMES	ss211637465	Jul 14, 2010 (132)
22	1000GENOMES	ss226987876	Jul 14, 2010 (132)
23	1000GENOMES	ss236845710	Jul 15, 2010 (132)
24	1000GENOMES	ss243220572	Jul 15, 2010 (132)
25	BL	ss255132615	May 09, 2011 (134)
26	GMI	ss282327665	May 04, 2012 (137)
27	GMI	ss286987101	Apr 25, 2013 (138)
28	PJP	ss291757322	May 09, 2011 (134)
29	ILLUMINA	ss479449079	Sep 08, 2015 (146)
30	1000GENOMES	ss491088633	May 04, 2012 (137)
31	GSK-GENETICS	ss491249426	May 04, 2012 (137)
32	CLINSEQ_SNP	ss491705153	May 04, 2012 (137)
33	TISHKOFF	ss564593397	Apr 25, 2013 (138)
34	SSMP	ss660330906	Apr 25, 2013 (138)
35	NHLBI-ESP	ss713253493	Apr 25, 2013 (138)
36	JMKIDD_LAB	ss974492208	Aug 21, 2014 (142)
37	EVA-GONL	ss991981830	Aug 21, 2014 (142)
38	JMKIDD_LAB	ss1067554670	Aug 21, 2014 (142)
39	JMKIDD_LAB	ss1080266910	Aug 21, 2014 (142)
40	1000GENOMES	ss1354230799	Aug 21, 2014 (142)
41	HAMMER_LAB	ss1397701866	Sep 08, 2015 (146)
42	DDI	ss1427685729	Apr 01, 2015 (144)
43	EVA_GENOME_DK	ss1577713150	Apr 01, 2015 (144)
44	EVA_FINRISK	ss1584095525	Apr 01, 2015 (144)
45	EVA_UK10K_ALSPAC	ss1633409354	Apr 01, 2015 (144)
46	EVA_UK10K_TWINSUK	ss1676403387	Apr 01, 2015 (144)
47	EVA_EXAC	ss1691948270	Apr 01, 2015 (144)
48	EVA_DECODE	ss1696008033	Apr 01, 2015 (144)
49	EVA_MGP	ss1711405781	Apr 01, 2015 (144)
50	EVA_SVP	ss1713504245	Apr 01, 2015 (144)
51	WEILL_CORNELL_DGM	ss1935385012	Feb 12, 2016 (147)
52	ILLUMINA	ss1959628585	Feb 12, 2016 (147)
53	GENOMED	ss1968152635	Jul 19, 2016 (147)
54	JJLAB	ss2028474078	Sep 14, 2016 (149)
55	CSHL	ss2136817396	Nov 08, 2017 (151)
56	USC_VALOUEV	ss2156882614	Dec 20, 2016 (150)
57	HUMAN_LONGEVITY	ss2208361190	Dec 20, 2016 (150)
58	SYSTEMSBIOZJU	ss2628732156	Nov 08, 2017 (151)
59	GRF	ss2701363174	Nov 08, 2017 (151)
60	GNOMAD	ss2741434820	Nov 08, 2017 (151)
61	GNOMAD	ss2749361856	Nov 08, 2017 (151)
62	GNOMAD	ss2937109000	Nov 08, 2017 (151)
63	AFFY	ss2985047725	Nov 08, 2017 (151)
64	AFFY	ss2985683523	Nov 08, 2017 (151)
65	SWEGEN	ss3013593832	Nov 08, 2017 (151)
66	ILLUMINA	ss3021651815	Nov 08, 2017 (151)
67	BIOINF_KMB_FNS_UNIBA	ss3028061310	Nov 08, 2017 (151)
68	CSHL	ss3351199595	Nov 08, 2017 (151)
69	ILLUMINA	ss3636306498	Oct 12, 2018 (152)
70	ILLUMINA	ss3638097028	Oct 12, 2018 (152)
71	ILLUMINA	ss3643080470	Oct 12, 2018 (152)
72	OMUKHERJEE_ADBS	ss3646478146	Oct 12, 2018 (152)
73	ILLUMINA	ss3652053581	Oct 12, 2018 (152)
74	ILLUMINA	ss3653820009	Oct 12, 2018 (152)
75	EGCUT_WGS	ss3680735180	Jul 13, 2019 (153)
76	EVA_DECODE	ss3698269599	Jul 13, 2019 (153)
77	ILLUMINA	ss3725516461	Jul 13, 2019 (153)
78	ACPOP	ss3741087476	Jul 13, 2019 (153)
79	EVA	ss3753325826	Jul 13, 2019 (153)
80	PAGE_CC	ss3771843439	Jul 13, 2019 (153)
81	PACBIO	ss3787901318	Jul 13, 2019 (153)
82	PACBIO	ss3792904328	Jul 13, 2019 (153)
83	PACBIO	ss3797788907	Jul 13, 2019 (153)
84	KHV_HUMAN_GENOMES	ss3818629793	Jul 13, 2019 (153)
85	EVA	ss3824943727	Apr 27, 2020 (154)
86	EVA	ss3825864172	Apr 27, 2020 (154)
87	EVA	ss3834329269	Apr 27, 2020 (154)
88	EVA	ss3840764239	Apr 27, 2020 (154)
89	EVA	ss3846254227	Apr 27, 2020 (154)
90	SGDP_PRJ	ss3883314082	Apr 27, 2020 (154)
91	KRGDB	ss3932543206	Apr 27, 2020 (154)
92	KOGIC	ss3976541165	Apr 27, 2020 (154)
93	FSA-LAB	ss3984078436	Apr 27, 2021 (155)
94	EVA	ss3984704389	Apr 27, 2021 (155)
95	EVA	ss3985728203	Apr 27, 2021 (155)
96	EVA	ss3986658250	Apr 27, 2021 (155)
97	TOPMED	ss4998150557	Apr 27, 2021 (155)
98	EVA	ss5141987846	Apr 27, 2021 (155)
99	TOMMO_GENOMICS	ss5217094125	Apr 27, 2021 (155)
100	EVA	ss5237231090	Apr 27, 2021 (155)
101	1000G_HIGH_COVERAGE	ss5299113406	Oct 16, 2022 (156)
102	EVA	ss5420469410	Oct 16, 2022 (156)
103	HUGCELL_USP	ss5492771170	Oct 16, 2022 (156)
104	EVA	ss5511490951	Oct 16, 2022 (156)
105	1000G_HIGH_COVERAGE	ss5600852577	Oct 16, 2022 (156)
106	EVA	ss5624055490	Oct 16, 2022 (156)
107	SANFORD_IMAGENETICS	ss5624365859	Oct 16, 2022 (156)
108	SANFORD_IMAGENETICS	ss5657887187	Oct 16, 2022 (156)
109	TOMMO_GENOMICS	ss5771170215	Oct 16, 2022 (156)
110	EVA	ss5800195299	Oct 16, 2022 (156)
111	YY_MCH	ss5815502112	Oct 16, 2022 (156)
112	EVA	ss5828461445	Oct 16, 2022 (156)
113	EVA	ss5847452330	Oct 16, 2022 (156)
114	EVA	ss5847750788	Oct 16, 2022 (156)
115	EVA	ss5848408300	Oct 16, 2022 (156)
116	EVA	ss5851370503	Oct 16, 2022 (156)
117	EVA	ss5876651375	Oct 16, 2022 (156)
118	EVA	ss5949305322	Oct 16, 2022 (156)
119	EVA	ss5979467694	Oct 16, 2022 (156)
120	EVA	ss5981291135	Oct 16, 2022 (156)
121	1000Genomes	NC_000015.9 - 78873119	Oct 12, 2018 (152)
122	1000Genomes_30x	NC_000015.10 - 78580777	Oct 16, 2022 (156)
123	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 78873119	Oct 12, 2018 (152)
124	Genome-wide autozygosity in Daghestan	NC_000015.8 - 76660174	Apr 27, 2020 (154)
125	Genetic variation in the Estonian population	NC_000015.9 - 78873119	Oct 12, 2018 (152)
126	ExAC	NC_000015.9 - 78873119	Oct 12, 2018 (152)
127	FINRISK	NC_000015.9 - 78873119	Apr 27, 2020 (154)
128	The Danish reference pan genome	NC_000015.9 - 78873119	Apr 27, 2020 (154)
129	gnomAD - Genomes	NC_000015.10 - 78580777	Apr 27, 2021 (155)
130	gnomAD - Exomes	NC_000015.9 - 78873119	Jul 13, 2019 (153)
131	GO Exome Sequencing Project	NC_000015.9 - 78873119	Oct 12, 2018 (152)
132	Genome of the Netherlands Release 5	NC_000015.9 - 78873119	Apr 27, 2020 (154)
133	HapMap	NC_000015.10 - 78580777	Apr 27, 2020 (154)
134	KOREAN population from KRGDB	NC_000015.9 - 78873119	Apr 27, 2020 (154)
135	Korean Genome Project	NC_000015.10 - 78580777	Apr 27, 2020 (154)
136	Medical Genome Project healthy controls from Spanish population	NC_000015.9 - 78873119	Apr 27, 2020 (154)
137	Northern Sweden	NC_000015.9 - 78873119	Jul 13, 2019 (153)
138	The PAGE Study	NC_000015.10 - 78580777	Jul 13, 2019 (153)
139	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000015.9 - 78873119	Apr 27, 2021 (155)
140	CNV burdens in cranial meningiomas	NC_000015.9 - 78873119	Apr 27, 2021 (155)
141	Qatari	NC_000015.9 - 78873119	Apr 27, 2020 (154)
142	SGDP_PRJ	NC_000015.9 - 78873119	Apr 27, 2020 (154)
143	Siberian	NC_000015.9 - 78873119	Apr 27, 2020 (154)
144	8.3KJPN	NC_000015.9 - 78873119	Apr 27, 2021 (155)
145	14KJPN	NC_000015.10 - 78580777	Oct 16, 2022 (156)
146	TopMed	NC_000015.10 - 78580777	Apr 27, 2021 (155)
147	UK 10K study - Twins	NC_000015.9 - 78873119	Oct 12, 2018 (152)
148	A Vietnamese Genetic Variation Database	NC_000015.9 - 78873119	Jul 13, 2019 (153)
149	ALFA	NC_000015.10 - 78580777	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
5797773313	NC_000015.10:78580776:C:G	NC_000015.10:78580776:C:G	(self)
171990, ss78385089, ss90221253, ss108966694, ss201066630, ss211637465, ss255132615, ss282327665, ss286987101, ss291757322, ss491249426, ss491705153, ss1397701866, ss1696008033, ss1713504245, ss2136817396, ss3643080470	NC_000015.8:76660173:C:T	NC_000015.10:78580776:C:T	(self)
67330082, 37389566, 26473428, 2331046, 91986, 3933734, 10701929, 1400977, 16684257, 39720600, 521541, 14372341, 954130, 253914, 17426942, 35331062, 9398968, 75063432, 37389566, 8312087, ss226987876, ss236845710, ss243220572, ss479449079, ss491088633, ss564593397, ss660330906, ss713253493, ss974492208, ss991981830, ss1067554670, ss1080266910, ss1354230799, ss1427685729, ss1577713150, ss1584095525, ss1633409354, ss1676403387, ss1691948270, ss1711405781, ss1935385012, ss1959628585, ss1968152635, ss2028474078, ss2156882614, ss2628732156, ss2701363174, ss2741434820, ss2749361856, ss2937109000, ss2985047725, ss2985683523, ss3013593832, ss3021651815, ss3351199595, ss3636306498, ss3638097028, ss3646478146, ss3652053581, ss3653820009, ss3680735180, ss3741087476, ss3753325826, ss3787901318, ss3792904328, ss3797788907, ss3824943727, ss3825864172, ss3834329269, ss3840764239, ss3883314082, ss3932543206, ss3984078436, ss3984704389, ss3985728203, ss3986658250, ss5217094125, ss5420469410, ss5511490951, ss5624055490, ss5624365859, ss5657887187, ss5800195299, ss5828461445, ss5847452330, ss5847750788, ss5848408300, ss5949305322, ss5979467694, ss5981291135	NC_000015.9:78873118:C:T	NC_000015.10:78580776:C:T	(self)
88378512, 474707018, 1299193, 32919166, 1064908, 105007319, 213696217, 5797773313, ss2208361190, ss3028061310, ss3698269599, ss3725516461, ss3771843439, ss3818629793, ss3846254227, ss3976541165, ss4998150557, ss5141987846, ss5237231090, ss5299113406, ss5492771170, ss5600852577, ss5771170215, ss5815502112, ss5851370503, ss5876651375	NC_000015.10:78580776:C:T	NC_000015.10:78580776:C:T	(self)
ss740497, ss6752019, ss24005989, ss65752451, ss69371813, ss74969628, ss76849962, ss76901610, ss98339060, ss99307504, ss103254289, ss119358514, ss136444862, ss161052402, ss161151775, ss173924278	NT_010194.17:49663675:C:T	NC_000015.10:78580776:C:T	(self)

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

21 citations for rs569207

PMID	Title	Author	Year	Journal
18414406	Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence.	Wang JC et al.	2009	Molecular psychiatry
18519524	Variants in nicotinic receptors and risk for nicotine dependence.	Bierut LJ et al.	2008	The American journal of psychiatry
18618000	A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction.	Weiss RB et al.	2008	PLoS genetics
19029397	Nicotinic receptor gene variants influence susceptibility to heavy smoking.	Stevens VL et al.	2008	Cancer epidemiology, biomarkers & prevention
19436041	Human neuronal acetylcholine receptor A5-A3-B4 haplotypes are associated with multiple nicotine dependence phenotypes.	Baker TB et al.	2009	Nicotine & tobacco research
19443489	Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5.	Wang JC et al.	2009	Human molecular genetics
20700147	Nicotinic α5 receptor subunit mRNA expression is associated with distant 5' upstream polymorphisms.	Smith RM et al.	2011	European journal of human genetics
20700436	Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD.	Saccone NL et al.	2010	PLoS genetics
20736995	Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence.	Wessel J et al.	2010	Neuropsychopharmacology
20808433	Associations of variants in CHRNA5/A3/B4 gene cluster with smoking behaviors in a Korean population.	Li MD et al.	2010	PloS one
21228559	An exploratory study on the CHRNA3-CHRNA5-CHRNB4 cluster, smoking, and Parkinson's disease.	Gao J et al.	2011	Neuro-degenerative diseases
21229299	Chromosome 15q24-25.1 variants, diet, and lung cancer susceptibility in cigarette smokers.	Sakoda LC et al.	2011	Cancer causes & control
21606948	Varenicline for smoking cessation: nausea severity and variation in nicotinic receptor genes.	Swan GE et al.	2012	The pharmacogenomics journal
22438921	Nicotinic acetylcholine receptor variants are related to smoking habits, but not directly to COPD.	Budulac SE et al.	2012	PloS one
23358500	Variation in the α 5 nicotinic acetylcholine receptor subunit gene predicts cigarette smoking intensity as a function of nicotine content.	Macqueen DA et al.	2014	The pharmacogenomics journal
23692359	CHRNA5-A3-B4 genetic variants alter nicotine intake and interact with tobacco use to influence body weight in Alaska Native tobacco users.	Zhu AZ et al.	2013	Addiction (Abingdon, England)
23943838	Effect of neuronal nicotinic acetylcholine receptor genes (CHRN) on longitudinal cigarettes per day in adolescents and young adults.	Cannon DS et al.	2014	Nicotine & tobacco research
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
25051068	Four SNPs in the CHRNA3/5 alpha-neuronal nicotinic acetylcholine receptor subunit locus are associated with COPD risk based on meta-analyses.	Cui K et al.	2014	PloS one
26695521	Mendelian Randomization - the Key to Understanding Aspects of Parkinson's Disease Causation?	Noyce AJ et al.	2016	Movement disorders
27166759	Converging findings from linkage and association analyses on susceptibility genes for smoking and other addictions.	Yang J et al.	2016	Molecular psychiatry

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs569207