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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.

rs2072660

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:154576245 (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
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.296951 (78600/264690, TOPMED)
T=0.247141 (33929/137286, ALFA)
T=0.34218 (26928/78696, PAGE_STUDY) (+ 16 more)
T=0.26074 (4370/16760, 8.3KJPN)
T=0.3073 (1539/5008, 1000G)
T=0.2112 (946/4480, Estonian)
T=0.2408 (928/3854, ALSPAC)
T=0.2317 (859/3708, TWINSUK)
T=0.2570 (753/2930, KOREAN)
T=0.3358 (632/1882, HapMap)
T=0.2789 (511/1832, Korea1K)
T=0.247 (247/998, GoNL)
T=0.270 (213/788, PRJEB37584)
T=0.310 (186/600, NorthernSweden)
T=0.180 (87/484, SGDP_PRJ)
T=0.259 (56/216, Qatari)
T=0.294 (63/214, Vietnamese)
T=0.25 (12/48, Siberian)
T=0.25 (10/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CHRNB2 : Non Coding Transcript Variant
Publications
19 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p13 chr 1 NC_000001.11:g.154576245T>C
GRCh38.p13 chr 1 NC_000001.11:g.154576245T>G
GRCh37.p13 chr 1 NC_000001.10:g.154548721T>C
GRCh37.p13 chr 1 NC_000001.10:g.154548721T>G
CHRNB2 RefSeqGene NG_008027.1:g.13465T>C
CHRNB2 RefSeqGene NG_008027.1:g.13465T>G
Gene: CHRNB2, cholinergic receptor nicotinic beta 2 subunit (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CHRNB2 transcript NM_000748.3:c.*313= N/A 3 Prime UTR Variant
CHRNB2 transcript variant X2 XM_017000180.2:c.*313= N/A 3 Prime UTR Variant
CHRNB2 transcript variant X1 XR_001736952.2:n.2074T>C N/A Non Coding Transcript Variant
CHRNB2 transcript variant X1 XR_001736952.2:n.2074T>G N/A Non Coding Transcript 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 137286 T=0.247141 C=0.752859, G=0.000000
European Sub 119468 T=0.236473 C=0.763527, G=0.000000
African Sub 4872 T=0.5072 C=0.4928, G=0.0000
African Others Sub 166 T=0.620 C=0.380, G=0.000
African American Sub 4706 T=0.5032 C=0.4968, G=0.0000
Asian Sub 566 T=0.249 C=0.751, G=0.000
East Asian Sub 458 T=0.275 C=0.725, G=0.000
Other Asian Sub 108 T=0.139 C=0.861, G=0.000
Latin American 1 Sub 614 T=0.293 C=0.707, G=0.000
Latin American 2 Sub 5760 T=0.2264 C=0.7736, G=0.0000
South Asian Sub 104 T=0.260 C=0.740, G=0.000
Other Sub 5902 T=0.2635 C=0.7365, G=0.0000


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 T=0.296951 C=0.703049
The PAGE Study Global Study-wide 78696 T=0.34218 C=0.65782
The PAGE Study AfricanAmerican Sub 32514 T=0.42539 C=0.57461
The PAGE Study Mexican Sub 10810 T=0.22488 C=0.77512
The PAGE Study Asian Sub 8318 T=0.2380 C=0.7620
The PAGE Study PuertoRican Sub 7914 T=0.2943 C=0.7057
The PAGE Study NativeHawaiian Sub 4534 T=0.4945 C=0.5055
The PAGE Study Cuban Sub 4230 T=0.2629 C=0.7371
The PAGE Study Dominican Sub 3828 T=0.3461 C=0.6539
The PAGE Study CentralAmerican Sub 2450 T=0.2473 C=0.7527
The PAGE Study SouthAmerican Sub 1982 T=0.2548 C=0.7452
The PAGE Study NativeAmerican Sub 1260 T=0.2849 C=0.7151
The PAGE Study SouthAsian Sub 856 T=0.243 C=0.757
8.3KJPN JAPANESE Study-wide 16760 T=0.26074 C=0.73926
1000Genomes Global Study-wide 5008 T=0.3073 C=0.6927
1000Genomes African Sub 1322 T=0.4660 C=0.5340
1000Genomes East Asian Sub 1008 T=0.3036 C=0.6964
1000Genomes Europe Sub 1006 T=0.2565 C=0.7435
1000Genomes South Asian Sub 978 T=0.196 C=0.804
1000Genomes American Sub 694 T=0.241 C=0.759
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.2112 C=0.7888
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.2408 C=0.7592
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.2317 C=0.7683
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.2570 C=0.7430
HapMap Global Study-wide 1882 T=0.3358 C=0.6642
HapMap American Sub 766 T=0.249 C=0.751
HapMap African Sub 688 T=0.488 C=0.512
HapMap Asian Sub 252 T=0.274 C=0.726
HapMap Europe Sub 176 T=0.205 C=0.795
Korean Genome Project KOREAN Study-wide 1832 T=0.2789 C=0.7211
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.247 C=0.753
CNV burdens in cranial meningiomas Global Study-wide 788 T=0.270 C=0.730
CNV burdens in cranial meningiomas CRM Sub 788 T=0.270 C=0.730
Northern Sweden ACPOP Study-wide 600 T=0.310 C=0.690
SGDP_PRJ Global Study-wide 484 T=0.180 C=0.820
Qatari Global Study-wide 216 T=0.259 C=0.741
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.294 C=0.706
Siberian Global Study-wide 48 T=0.25 C=0.75
The Danish reference pan genome Danish Study-wide 40 T=0.25 C=0.75
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 T= C G
GRCh38.p13 chr 1 NC_000001.11:g.154576245= NC_000001.11:g.154576245T>C NC_000001.11:g.154576245T>G
GRCh37.p13 chr 1 NC_000001.10:g.154548721= NC_000001.10:g.154548721T>C NC_000001.10:g.154548721T>G
CHRNB2 RefSeqGene NG_008027.1:g.13465= NG_008027.1:g.13465T>C NG_008027.1:g.13465T>G
CHRNB2 transcript NM_000748.3:c.*313= NM_000748.3:c.*313T>C NM_000748.3:c.*313T>G
CHRNB2 transcript NM_000748.2:c.*313= NM_000748.2:c.*313T>C NM_000748.2:c.*313T>G
CHRNB2 transcript variant X2 XM_017000180.2:c.*313= XM_017000180.2:c.*313T>C XM_017000180.2:c.*313T>G
CHRNB2 transcript variant X1 XR_001736952.2:n.2074= XR_001736952.2:n.2074T>C XR_001736952.2:n.2074T>G
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#.

117 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss2986745 Jun 15, 2001 (96)
2 HGBASE ss3187718 Aug 15, 2001 (98)
3 TSC-CSHL ss5160889 Oct 08, 2002 (108)
4 WI_SSAHASNP ss11395407 Jul 11, 2003 (116)
5 CSHL-HAPMAP ss16418205 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss19121079 Feb 27, 2004 (120)
7 ABI ss44132820 Mar 15, 2006 (126)
8 ILLUMINA ss65741192 Oct 15, 2006 (127)
9 TAPPERS ss69371817 May 17, 2007 (127)
10 SI_EXO ss71642820 May 17, 2007 (127)
11 ILLUMINA ss74872078 Dec 07, 2007 (129)
12 UUGC ss76901685 Dec 07, 2007 (129)
13 HGSV ss80090164 Dec 15, 2007 (130)
14 BCMHGSC_JDW ss87824677 Mar 23, 2008 (129)
15 HUMANGENOME_JCVI ss99251111 Feb 06, 2009 (130)
16 SHGC ss99307546 Feb 06, 2009 (130)
17 BGI ss106602165 Feb 06, 2009 (130)
18 1000GENOMES ss108599285 Jan 23, 2009 (130)
19 1000GENOMES ss111154440 Jan 25, 2009 (130)
20 ILLUMINA-UK ss119032243 Feb 15, 2009 (130)
21 KRIBB_YJKIM ss119415486 Dec 01, 2009 (131)
22 ENSEMBL ss138083313 Dec 01, 2009 (131)
23 ENSEMBL ss139210682 Dec 01, 2009 (131)
24 ILLUMINA ss160498306 Dec 01, 2009 (131)
25 PERLEGEN ss161151681 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss164120029 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss165220013 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss167133556 Jul 04, 2010 (132)
29 ILLUMINA ss173097936 Jul 04, 2010 (132)
30 BUSHMAN ss199086363 Jul 04, 2010 (132)
31 BCM-HGSC-SUB ss205346044 Jul 04, 2010 (132)
32 1000GENOMES ss218651247 Jul 14, 2010 (132)
33 1000GENOMES ss230731930 Jul 14, 2010 (132)
34 1000GENOMES ss238379842 Jul 15, 2010 (132)
35 BL ss253509152 May 09, 2011 (134)
36 GMI ss276051213 May 04, 2012 (137)
37 PJP ss290637058 May 09, 2011 (134)
38 ILLUMINA ss480411689 May 04, 2012 (137)
39 ILLUMINA ss480425079 May 04, 2012 (137)
40 ILLUMINA ss481207885 Sep 08, 2015 (146)
41 ILLUMINA ss485003390 May 04, 2012 (137)
42 GSK-GENETICS ss491235549 May 04, 2012 (137)
43 ILLUMINA ss537034547 Sep 08, 2015 (146)
44 TISHKOFF ss554693767 Apr 25, 2013 (138)
45 SSMP ss648413995 Apr 25, 2013 (138)
46 ILLUMINA ss778853319 Aug 21, 2014 (142)
47 ILLUMINA ss782947998 Aug 21, 2014 (142)
48 ILLUMINA ss783910392 Aug 21, 2014 (142)
49 ILLUMINA ss832203876 Apr 01, 2015 (144)
50 ILLUMINA ss834314002 Aug 21, 2014 (142)
51 EVA-GONL ss975682557 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1068269622 Aug 21, 2014 (142)
53 1000GENOMES ss1292925494 Aug 21, 2014 (142)
54 DDI ss1425978966 Apr 01, 2015 (144)
55 EVA_GENOME_DK ss1574392083 Apr 01, 2015 (144)
56 EVA_DECODE ss1585063977 Apr 01, 2015 (144)
57 EVA_UK10K_ALSPAC ss1601213926 Apr 01, 2015 (144)
58 EVA_UK10K_TWINSUK ss1644207959 Apr 01, 2015 (144)
59 EVA_SVP ss1712370916 Apr 01, 2015 (144)
60 ILLUMINA ss1751872199 Sep 08, 2015 (146)
61 HAMMER_LAB ss1795092185 Sep 08, 2015 (146)
62 WEILL_CORNELL_DGM ss1918916461 Feb 12, 2016 (147)
63 ILLUMINA ss1958317577 Feb 12, 2016 (147)
64 GENOMED ss1966867528 Jul 19, 2016 (147)
65 JJLAB ss2019973769 Sep 14, 2016 (149)
66 USC_VALOUEV ss2147998283 Dec 20, 2016 (150)
67 HUMAN_LONGEVITY ss2166540950 Dec 20, 2016 (150)
68 TOPMED ss2329045867 Dec 20, 2016 (150)
69 SYSTEMSBIOZJU ss2624494911 Nov 08, 2017 (151)
70 ILLUMINA ss2632576061 Nov 08, 2017 (151)
71 GRF ss2697971174 Nov 08, 2017 (151)
72 GNOMAD ss2761315597 Nov 08, 2017 (151)
73 AFFY ss2985525065 Nov 08, 2017 (151)
74 SWEGEN ss2987752070 Nov 08, 2017 (151)
75 ILLUMINA ss3021136272 Nov 08, 2017 (151)
76 BIOINF_KMB_FNS_UNIBA ss3023744052 Nov 08, 2017 (151)
77 TOPMED ss3092142231 Nov 08, 2017 (151)
78 TOPMED ss3092142232 Nov 08, 2017 (151)
79 CSHL ss3343710531 Nov 08, 2017 (151)
80 ILLUMINA ss3626208405 Oct 11, 2018 (152)
81 ILLUMINA ss3630608956 Oct 11, 2018 (152)
82 ILLUMINA ss3632909961 Oct 11, 2018 (152)
83 ILLUMINA ss3633605284 Oct 11, 2018 (152)
84 ILLUMINA ss3634349873 Oct 11, 2018 (152)
85 ILLUMINA ss3635298735 Oct 11, 2018 (152)
86 ILLUMINA ss3636029338 Oct 11, 2018 (152)
87 ILLUMINA ss3637049223 Oct 11, 2018 (152)
88 ILLUMINA ss3637787295 Oct 11, 2018 (152)
89 ILLUMINA ss3640057230 Oct 11, 2018 (152)
90 ILLUMINA ss3642796575 Oct 11, 2018 (152)
91 OMUKHERJEE_ADBS ss3646246100 Oct 11, 2018 (152)
92 URBANLAB ss3646791324 Oct 11, 2018 (152)
93 ILLUMINA ss3651470516 Oct 11, 2018 (152)
94 EGCUT_WGS ss3655692280 Jul 12, 2019 (153)
95 EVA_DECODE ss3687782303 Jul 12, 2019 (153)
96 ILLUMINA ss3725065372 Jul 12, 2019 (153)
97 ACPOP ss3727485705 Jul 12, 2019 (153)
98 ILLUMINA ss3744650782 Jul 12, 2019 (153)
99 EVA ss3746808073 Jul 12, 2019 (153)
100 PAGE_CC ss3770840930 Jul 12, 2019 (153)
101 ILLUMINA ss3772151916 Jul 12, 2019 (153)
102 PACBIO ss3783566295 Jul 12, 2019 (153)
103 PACBIO ss3789197840 Jul 12, 2019 (153)
104 PACBIO ss3794069845 Jul 12, 2019 (153)
105 KHV_HUMAN_GENOMES ss3799809810 Jul 12, 2019 (153)
106 EVA ss3826424135 Apr 25, 2020 (154)
107 EVA ss3836606647 Apr 25, 2020 (154)
108 EVA ss3842015866 Apr 25, 2020 (154)
109 SGDP_PRJ ss3850006602 Apr 25, 2020 (154)
110 KRGDB ss3895212938 Apr 25, 2020 (154)
111 KOGIC ss3945651167 Apr 25, 2020 (154)
112 FSA-LAB ss3983947185 Apr 25, 2021 (155)
113 FSA-LAB ss3983947186 Apr 25, 2021 (155)
114 EVA ss3984464754 Apr 25, 2021 (155)
115 EVA ss3986013169 Apr 25, 2021 (155)
116 TOPMED ss4468301315 Apr 25, 2021 (155)
117 TOMMO_GENOMICS ss5146483006 Apr 25, 2021 (155)
118 1000Genomes NC_000001.10 - 154548721 Oct 11, 2018 (152)
119 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 154548721 Oct 11, 2018 (152)
120 Genetic variation in the Estonian population NC_000001.10 - 154548721 Oct 11, 2018 (152)
121 The Danish reference pan genome NC_000001.10 - 154548721 Apr 25, 2020 (154)
122 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 27050415 (NC_000001.11:154576244:T:C 98071/140038)
Row 27050416 (NC_000001.11:154576244:T:G 1/140074)

- Apr 25, 2021 (155)
123 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 27050415 (NC_000001.11:154576244:T:C 98071/140038)
Row 27050416 (NC_000001.11:154576244:T:G 1/140074)

- Apr 25, 2021 (155)
124 Genome of the Netherlands Release 5 NC_000001.10 - 154548721 Apr 25, 2020 (154)
125 HapMap NC_000001.11 - 154576245 Apr 25, 2020 (154)
126 KOREAN population from KRGDB NC_000001.10 - 154548721 Apr 25, 2020 (154)
127 Korean Genome Project NC_000001.11 - 154576245 Apr 25, 2020 (154)
128 Northern Sweden NC_000001.10 - 154548721 Jul 12, 2019 (153)
129 The PAGE Study NC_000001.11 - 154576245 Jul 12, 2019 (153)
130 CNV burdens in cranial meningiomas NC_000001.10 - 154548721 Apr 25, 2021 (155)
131 Qatari NC_000001.10 - 154548721 Apr 25, 2020 (154)
132 SGDP_PRJ NC_000001.10 - 154548721 Apr 25, 2020 (154)
133 Siberian NC_000001.10 - 154548721 Apr 25, 2020 (154)
134 8.3KJPN NC_000001.10 - 154548721 Apr 25, 2021 (155)
135 TopMed NC_000001.11 - 154576245 Apr 25, 2021 (155)
136 UK 10K study - Twins NC_000001.10 - 154548721 Oct 11, 2018 (152)
137 A Vietnamese Genetic Variation Database NC_000001.10 - 154548721 Jul 12, 2019 (153)
138 ALFA NC_000001.11 - 154576245 Apr 25, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs60570685 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss80090164 NC_000001.8:151361793:T:C NC_000001.11:154576244:T:C (self)
ss87824677, ss108599285, ss111154440, ss119032243, ss160498306, ss164120029, ss165220013, ss167133556, ss199086363, ss205346044, ss253509152, ss276051213, ss290637058, ss480411689, ss491235549, ss1585063977, ss1712370916, ss3642796575 NC_000001.9:152815344:T:C NC_000001.11:154576244:T:C (self)
3717547, 2021155, 1430528, 1708641, 878198, 2390332, 770570, 14068, 958391, 2023582, 514637, 4452313, 2021155, 434384, ss218651247, ss230731930, ss238379842, ss480425079, ss481207885, ss485003390, ss537034547, ss554693767, ss648413995, ss778853319, ss782947998, ss783910392, ss832203876, ss834314002, ss975682557, ss1068269622, ss1292925494, ss1425978966, ss1574392083, ss1601213926, ss1644207959, ss1751872199, ss1795092185, ss1918916461, ss1958317577, ss1966867528, ss2019973769, ss2147998283, ss2329045867, ss2624494911, ss2632576061, ss2697971174, ss2761315597, ss2985525065, ss2987752070, ss3021136272, ss3343710531, ss3626208405, ss3630608956, ss3632909961, ss3633605284, ss3634349873, ss3635298735, ss3636029338, ss3637049223, ss3637787295, ss3640057230, ss3646246100, ss3651470516, ss3655692280, ss3727485705, ss3744650782, ss3746808073, ss3772151916, ss3783566295, ss3789197840, ss3794069845, ss3826424135, ss3836606647, ss3850006602, ss3895212938, ss3983947185, ss3983947186, ss3984464754, ss3986013169, ss5146483006 NC_000001.10:154548720:T:C NC_000001.11:154576244:T:C (self)
176441, 2029168, 62399, 20031733, 31907650, 9702566109, ss2166540950, ss3023744052, ss3092142231, ss3646791324, ss3687782303, ss3725065372, ss3770840930, ss3799809810, ss3842015866, ss3945651167, ss4468301315 NC_000001.11:154576244:T:C NC_000001.11:154576244:T:C (self)
ss2986745, ss3187718, ss5160889, ss44132820, ss65741192, ss69371817, ss71642820, ss74872078, ss76901685, ss99251111, ss99307546, ss106602165, ss119415486, ss138083313, ss139210682, ss161151681, ss173097936 NT_004487.19:6037362:T:C NC_000001.11:154576244:T:C (self)
ss11395407 NT_004668.15:998552:T:C NC_000001.11:154576244:T:C (self)
ss16418205, ss19121079 NT_079484.1:998552:T:C NC_000001.11:154576244:T:C (self)
ss2761315597 NC_000001.10:154548720:T:G NC_000001.11:154576244:T:G (self)
9702566109, ss3092142232 NC_000001.11:154576244:T:G NC_000001.11:154576244:T:G (self)
Help

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

19 citations for rs2072660
PMID Title Author Year Journal
15154117 A common haplotype of the nicotine acetylcholine receptor alpha 4 subunit gene is associated with vulnerability to nicotine addiction in men. Feng Y et al. 2004 American journal of human genetics
16314871 Why do young women smoke? I. Direct and interactive effects of environment, psychological characteristics and nicotinic cholinergic receptor genes. Greenbaum L et al. 2006 Molecular psychiatry
17373692 No evidence for association between 19 cholinergic genes and bipolar disorder. Shi J et al. 2007 American journal of medical genetics. Part B, Neuropsychiatric genetics
17503330 A generalized combinatorial approach for detecting gene-by-gene and gene-by-environment interactions with application to nicotine dependence. Lou XY et al. 2007 American journal of human genetics
18534558 Gene-gene interactions among CHRNA4, CHRNB2, BDNF, and NTRK2 in nicotine dependence. Li MD et al. 2008 Biological psychiatry
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
18593715 Nicotinic acetylcholine receptor beta2 subunit gene implicated in a systems-based candidate gene study of smoking cessation. Conti DV et al. 2008 Human molecular genetics
19259974 Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes. Saccone NL et al. 2009 American journal of medical genetics. Part B, Neuropsychiatric genetics
19760673 Association of CHRN genes with "dizziness" to tobacco. Ehringer MA et al. 2010 American journal of medical genetics. Part B, Neuropsychiatric 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
20854418 CHRNB2 promoter region: association with subjective effects to nicotine and gene expression differences. Hoft NR et al. 2011 Genes, brain, and behavior
21467728 Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study. Wakai K et al. 2011 Journal of epidemiology
21606948 Varenicline for smoking cessation: nausea severity and variation in nicotinic receptor genes. Swan GE et al. 2012 The pharmacogenomics journal
22180580 Association between nicotinic acetylcholine receptor single nucleotide polymorphisms and smoking cessation. Spruell T et al. 2012 Nicotine & tobacco research
23691092 Associations of prenatal nicotine exposure and the dopamine related genes ANKK1 and DRD2 to verbal language. Eicher JD et al. 2013 PloS one
24667010 Nicotine dependence as a moderator of genetic influences on smoking cessation treatment outcome. Leventhal AM et al. 2014 Drug and alcohol dependence
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
25640319 The possible role of maternal bonding style and CHRNB2 gene polymorphisms in nicotine dependence and related depressive phenotype. Csala I et al. 2015 Progress in neuro-psychopharmacology & biological psychiatry
25778907 The DYX2 locus and neurochemical signaling genes contribute to speech sound disorder and related neurocognitive domains. Eicher JD et al. 2015 Genes, brain, and behavior
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