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.
rs1051730
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr15:78601997 (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
- G>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.243678 (64499/264690, TOPMED)A=0.327632 (85459/260838, ALFA)A=0.269257 (67652/251254, GnomAD_exome) (+ 24 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- CHRNA3 : Synonymous Variant
- Publications
- 290 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 | 277294 | G=0.675849 | A=0.324151 | 0.462368 | 0.11067 | 0.426962 | 32 |
| European | Sub | 232708 | G=0.653845 | A=0.346155 | 0.429319 | 0.121629 | 0.449052 | 5 |
| African | Sub | 15606 | G=0.88178 | A=0.11822 | 0.778034 | 0.014482 | 0.207484 | 0 |
| African Others | Sub | 540 | G=0.930 | A=0.070 | 0.862963 | 0.003704 | 0.133333 | 0 |
| African American | Sub | 15066 | G=0.88006 | A=0.11994 | 0.77499 | 0.014868 | 0.210142 | 0 |
| Asian | Sub | 834 | G=0.970 | A=0.030 | 0.940048 | 0.0 | 0.059952 | 0 |
| East Asian | Sub | 660 | G=0.971 | A=0.029 | 0.942424 | 0.0 | 0.057576 | 0 |
| Other Asian | Sub | 174 | G=0.966 | A=0.034 | 0.931034 | 0.0 | 0.068966 | 0 |
| Latin American 1 | Sub | 1190 | G=0.7782 | A=0.2218 | 0.610084 | 0.053782 | 0.336134 | 0 |
| Latin American 2 | Sub | 6900 | G=0.8158 | A=0.1842 | 0.670725 | 0.03913 | 0.290145 | 3 |
| South Asian | Sub | 5048 | G=0.7552 | A=0.2448 | 0.575277 | 0.064976 | 0.359746 | 1 |
| Other | Sub | 15008 | G=0.68743 | A=0.31257 | 0.474547 | 0.09968 | 0.425773 | 0 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | G=0.756322 | A=0.243678 |
| Allele Frequency Aggregator | Total | Global | 260838 | G=0.672368 | A=0.327632 |
| Allele Frequency Aggregator | European | Sub | 222542 | G=0.653531 | A=0.346469 |
| Allele Frequency Aggregator | Other | Sub | 13556 | G=0.68612 | A=0.31388 |
| Allele Frequency Aggregator | African | Sub | 10768 | G=0.87890 | A=0.12110 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 6900 | G=0.8158 | A=0.1842 |
| Allele Frequency Aggregator | South Asian | Sub | 5048 | G=0.7552 | A=0.2448 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1190 | G=0.7782 | A=0.2218 |
| Allele Frequency Aggregator | Asian | Sub | 834 | G=0.970 | A=0.030 |
| gnomAD - Exomes | Global | Study-wide | 251254 | G=0.730743 | A=0.269257 |
| gnomAD - Exomes | European | Sub | 135252 | G=0.655591 | A=0.344409 |
| gnomAD - Exomes | Asian | Sub | 48986 | G=0.84065 | A=0.15935 |
| gnomAD - Exomes | American | Sub | 34584 | G=0.83356 | A=0.16644 |
| gnomAD - Exomes | African | Sub | 16250 | G=0.88763 | A=0.11237 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10052 | G=0.61709 | A=0.38291 |
| gnomAD - Exomes | Other | Sub | 6130 | G=0.7010 | A=0.2990 |
| gnomAD - Genomes | Global | Study-wide | 139848 | G=0.740275 | A=0.259725 |
| gnomAD - Genomes | European | Sub | 75734 | G=0.65438 | A=0.34562 |
| gnomAD - Genomes | African | Sub | 41906 | G=0.88097 | A=0.11903 |
| gnomAD - Genomes | American | Sub | 13614 | G=0.76385 | A=0.23615 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | G=0.6186 | A=0.3814 |
| gnomAD - Genomes | East Asian | Sub | 3128 | G=0.9690 | A=0.0310 |
| gnomAD - Genomes | Other | Sub | 2144 | G=0.7295 | A=0.2705 |
| ExAC | Global | Study-wide | 121262 | G=0.727029 | A=0.272971 |
| ExAC | Europe | Sub | 73258 | G=0.64800 | A=0.35200 |
| ExAC | Asian | Sub | 25132 | G=0.83575 | A=0.16425 |
| ExAC | American | Sub | 11562 | G=0.85331 | A=0.14669 |
| ExAC | African | Sub | 10402 | G=0.88454 | A=0.11546 |
| ExAC | Other | Sub | 908 | G=0.682 | A=0.318 |
| The PAGE Study | Global | Study-wide | 78694 | G=0.84408 | A=0.15592 |
| The PAGE Study | AfricanAmerican | Sub | 32514 | G=0.87716 | A=0.12284 |
| The PAGE Study | Mexican | Sub | 10808 | G=0.80968 | A=0.19032 |
| The PAGE Study | Asian | Sub | 8318 | G=0.9740 | A=0.0260 |
| The PAGE Study | PuertoRican | Sub | 7918 | G=0.7527 | A=0.2473 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | G=0.8701 | A=0.1299 |
| The PAGE Study | Cuban | Sub | 4228 | G=0.6923 | A=0.3077 |
| The PAGE Study | Dominican | Sub | 3828 | G=0.7753 | A=0.2247 |
| The PAGE Study | CentralAmerican | Sub | 2448 | G=0.8325 | A=0.1675 |
| The PAGE Study | SouthAmerican | Sub | 1982 | G=0.7977 | A=0.2023 |
| The PAGE Study | NativeAmerican | Sub | 1260 | G=0.7548 | A=0.2452 |
| The PAGE Study | SouthAsian | Sub | 856 | G=0.796 | A=0.204 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.97926 | A=0.02074 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.97900 | A=0.02100 |
| GO Exome Sequencing Project | Global | Study-wide | 12978 | G=0.72808 | A=0.27192 |
| GO Exome Sequencing Project | European American | Sub | 8586 | G=0.6506 | A=0.3494 |
| GO Exome Sequencing Project | African American | Sub | 4392 | G=0.8796 | A=0.1204 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.8278 | A=0.1722 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.9082 | A=0.0918 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.6209 | A=0.3791 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.8195 | A=0.1805 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.9726 | A=0.0274 |
| 1000Genomes_30x | American | Sub | 980 | G=0.786 | A=0.214 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.8319 | A=0.1681 |
| 1000Genomes | African | Sub | 1322 | G=0.9130 | A=0.0870 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.9732 | A=0.0268 |
| 1000Genomes | Europe | Sub | 1006 | G=0.6312 | A=0.3688 |
| 1000Genomes | South Asian | Sub | 978 | G=0.817 | A=0.183 |
| 1000Genomes | American | Sub | 694 | G=0.784 | A=0.216 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.6768 | A=0.3232 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.6764 | A=0.3236 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.6718 | A=0.3282 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | G=0.9771 | A=0.0229 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | G=0.7793 | A=0.2207 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | G=0.943 | A=0.057 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | G=0.691 | A=0.309 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | G=0.600 | A=0.400 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | G=0.628 | A=0.372 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | G=0.880 | A=0.120 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | G=0.935 | A=0.065 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | G=0.96 | A=0.04 |
| HapMap | Global | Study-wide | 1892 | G=0.8383 | A=0.1617 |
| HapMap | American | Sub | 770 | G=0.787 | A=0.213 |
| HapMap | African | Sub | 692 | G=0.910 | A=0.090 |
| HapMap | Asian | Sub | 254 | G=0.980 | A=0.020 |
| HapMap | Europe | Sub | 176 | G=0.574 | A=0.426 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.663 | A=0.337 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | G=0.967 | A=0.033 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | G=0.967 | A=0.033 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.678 | A=0.322 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.607 | A=0.393 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | G=0.697 | A=0.303 |
| Qatari | Global | Study-wide | 216 | G=0.625 | A=0.375 |
| SGDP_PRJ | Global | Study-wide | 170 | G=0.400 | A=0.600 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 84 | G=0.69 | A=0.31 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.55 | A=0.45 |
| Siberian | Global | Study-wide | 22 | G=0.41 | A=0.59 |
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.p14 chr 15 | NC_000015.10:g.78601997G>A |
| GRCh37.p13 chr 15 | NC_000015.9:g.78894339G>A |
| CHRNA3 RefSeqGene | NG_016143.1:g.24299C>T |
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.645C>T | Y [TAC] > Y [TAT] | Coding Sequence Variant |
| neuronal acetylcholine receptor subunit alpha-3 isoform 1 precursor | NP_000734.2:p.Tyr215= | Y (Tyr) > Y (Tyr) | Synonymous Variant |
| CHRNA3 transcript variant 2 | NM_001166694.2:c.645C>T | Y [TAC] > Y [TAT] | Coding Sequence Variant |
| neuronal acetylcholine receptor subunit alpha-3 isoform 2 precursor | NP_001160166.1:p.Tyr215= | Y (Tyr) > Y (Tyr) | Synonymous Variant |
| CHRNA3 transcript variant 3 | NR_046313.2:n.847C>T | N/A | Non Coding Transcript Variant |
| CHRNA3 transcript variant X1 | XM_006720382.4:c.444C>T | Y [TAC] > Y [TAT] | Coding Sequence Variant |
| neuronal acetylcholine receptor subunit alpha-3 isoform X1 | XP_006720445.1:p.Tyr148= | Y (Tyr) > Y (Tyr) | Synonymous 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.
Allele: A (allele ID:
32542
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000019055.3 | Lung cancer susceptibility 2 | Risk-Factor |
| RCV000033204.3 | Smoking as a quantitative trait locus 3 | Risk-Factor |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | G= | A |
|---|---|---|
| GRCh38.p14 chr 15 | NC_000015.10:g.78601997= | NC_000015.10:g.78601997G>A |
| GRCh37.p13 chr 15 | NC_000015.9:g.78894339= | NC_000015.9:g.78894339G>A |
| CHRNA3 RefSeqGene | NG_016143.1:g.24299= | NG_016143.1:g.24299C>T |
| CHRNA3 transcript variant 1 | NM_000743.5:c.645= | NM_000743.5:c.645C>T |
| CHRNA3 transcript variant 1 | NM_000743.4:c.645= | NM_000743.4:c.645C>T |
| CHRNA3 transcript variant 3 | NR_046313.2:n.847= | NR_046313.2:n.847C>T |
| CHRNA3 transcript variant 3 | NR_046313.1:n.1146= | NR_046313.1:n.1146C>T |
| CHRNA3 transcript variant 2 | NM_001166694.2:c.645= | NM_001166694.2:c.645C>T |
| CHRNA3 transcript variant 2 | NM_001166694.1:c.645= | NM_001166694.1:c.645C>T |
| CHRNA3 transcript variant X1 | XM_006720382.4:c.444= | XM_006720382.4:c.444C>T |
| CHRNA3 transcript variant X1 | XM_006720382.3:c.444= | XM_006720382.3:c.444C>T |
| CHRNA3 transcript variant X1 | XM_006720382.2:c.444= | XM_006720382.2:c.444C>T |
| CHRNA3 transcript variant X2 | XM_006720382.1:c.444= | XM_006720382.1:c.444C>T |
| neuronal acetylcholine receptor subunit alpha-3 isoform 1 precursor | NP_000734.2:p.Tyr215= | NP_000734.2:p.Tyr215= |
| neuronal acetylcholine receptor subunit alpha-3 isoform 2 precursor | NP_001160166.1:p.Tyr215= | NP_001160166.1:p.Tyr215= |
| neuronal acetylcholine receptor subunit alpha-3 isoform X1 | XP_006720445.1:p.Tyr148= | XP_006720445.1:p.Tyr148= |
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#.
163 SubSNP,
27 Frequency,
2 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | LEE | ss1527503 | Oct 05, 2000 (86) |
| 2 | WI_SSAHASNP | ss6752714 | Feb 20, 2003 (111) |
| 3 | HG_BONN_CNS_SNPS | ss12586759 | Aug 26, 2003 (117) |
| 4 | CSHL-HAPMAP | ss16686526 | Feb 27, 2004 (120) |
| 5 | PERLEGEN | ss24450352 | Sep 20, 2004 (123) |
| 6 | ILLUMINA | ss66633671 | Nov 30, 2006 (127) |
| 7 | ILLUMINA | ss66894650 | Nov 30, 2006 (127) |
| 8 | ILLUMINA | ss67002526 | Nov 30, 2006 (127) |
| 9 | CSHL-HAPMAP | ss68382321 | Jan 12, 2007 (127) |
| 10 | ILLUMINA | ss70375475 | May 17, 2007 (127) |
| 11 | ILLUMINA | ss70490682 | May 25, 2008 (130) |
| 12 | ILLUMINA | ss71015211 | May 17, 2007 (127) |
| 13 | ILLUMINA | ss75505216 | Dec 06, 2007 (129) |
| 14 | UUGC | ss76901672 | Dec 06, 2007 (129) |
| 15 | KRIBB_YJKIM | ss83674185 | Dec 15, 2007 (130) |
| 16 | CORNELL | ss86272886 | Mar 23, 2008 (129) |
| 17 | CNG | ss98336491 | Feb 05, 2009 (130) |
| 18 | SHGC | ss99307503 | Feb 05, 2009 (130) |
| 19 | 1000GENOMES | ss108966814 | Jan 23, 2009 (130) |
| 20 | ILLUMINA | ss121363562 | Dec 01, 2009 (131) |
| 21 | ILLUMINA | ss152786497 | Dec 01, 2009 (131) |
| 22 | ILLUMINA | ss159135491 | Dec 01, 2009 (131) |
| 23 | SEATTLESEQ | ss159731143 | Dec 01, 2009 (131) |
| 24 | ILLUMINA | ss159908614 | Dec 01, 2009 (131) |
| 25 | PERLEGEN | ss161151767 | Dec 01, 2009 (131) |
| 26 | ILLUMINA | ss169545555 | Jul 04, 2010 (132) |
| 27 | ILLUMINA | ss170343271 | Jul 04, 2010 (132) |
| 28 | BCM-HGSC-SUB | ss207219787 | Jul 04, 2010 (132) |
| 29 | 1000GENOMES | ss226987927 | Jul 14, 2010 (132) |
| 30 | 1000GENOMES | ss236845753 | Jul 15, 2010 (132) |
| 31 | 1000GENOMES | ss243220619 | Jul 15, 2010 (132) |
| 32 | BL | ss255132764 | May 09, 2011 (134) |
| 33 | GMI | ss286987132 | Apr 25, 2013 (138) |
| 34 | NHLBI-ESP | ss342409746 | May 09, 2011 (134) |
| 35 | ILLUMINA | ss410887974 | Sep 17, 2011 (135) |
| 36 | PAGE_STUDY | ss469414507 | May 04, 2012 (137) |
| 37 | PAGE_STUDY | ss469415358 | May 04, 2012 (137) |
| 38 | PAGE_STUDY | ss469996490 | May 04, 2012 (137) |
| 39 | ILLUMINA | ss479312924 | May 04, 2012 (137) |
| 40 | ILLUMINA | ss479316024 | May 04, 2012 (137) |
| 41 | ILLUMINA | ss479700326 | Sep 08, 2015 (146) |
| 42 | ILLUMINA | ss484456772 | May 04, 2012 (137) |
| 43 | 1000GENOMES | ss491088657 | May 04, 2012 (137) |
| 44 | GSK-GENETICS | ss491249729 | May 04, 2012 (137) |
| 45 | EXOME_CHIP | ss491497937 | May 04, 2012 (137) |
| 46 | CLINSEQ_SNP | ss491705171 | May 04, 2012 (137) |
| 47 | ILLUMINA | ss536622098 | Sep 08, 2015 (146) |
| 48 | TISHKOFF | ss564593482 | Apr 25, 2013 (138) |
| 49 | SSMP | ss660330994 | Apr 25, 2013 (138) |
| 50 | ILLUMINA | ss778360901 | Aug 21, 2014 (142) |
| 51 | ILLUMINA | ss782674941 | Aug 21, 2014 (142) |
| 52 | ILLUMINA | ss783643607 | Aug 21, 2014 (142) |
| 53 | ILLUMINA | ss825345086 | Jul 19, 2016 (147) |
| 54 | ILLUMINA | ss831925656 | Apr 01, 2015 (144) |
| 55 | ILLUMINA | ss832648157 | Aug 21, 2014 (142) |
| 56 | ILLUMINA | ss833238846 | Aug 21, 2014 (142) |
| 57 | ILLUMINA | ss833815674 | Aug 21, 2014 (142) |
| 58 | JMKIDD_LAB | ss974492212 | Aug 21, 2014 (142) |
| 59 | EVA-GONL | ss991981992 | Aug 21, 2014 (142) |
| 60 | JMKIDD_LAB | ss1067554683 | Aug 21, 2014 (142) |
| 61 | JMKIDD_LAB | ss1080267011 | Aug 21, 2014 (142) |
| 62 | 1000GENOMES | ss1354231316 | Aug 21, 2014 (142) |
| 63 | DDI | ss1427685769 | Apr 01, 2015 (144) |
| 64 | OMIM-CURATED-RECORDS | ss1505810978 | Dec 08, 2014 (142) |
| 65 | EVA_GENOME_DK | ss1577713203 | Apr 01, 2015 (144) |
| 66 | EVA_FINRISK | ss1584095529 | Apr 01, 2015 (144) |
| 67 | EVA_UK10K_ALSPAC | ss1633409666 | Apr 01, 2015 (144) |
| 68 | EVA_UK10K_TWINSUK | ss1676403699 | Apr 01, 2015 (144) |
| 69 | EVA_EXAC | ss1691948724 | Apr 01, 2015 (144) |
| 70 | EVA_DECODE | ss1696008199 | Apr 01, 2015 (144) |
| 71 | EVA_MGP | ss1711405799 | Apr 01, 2015 (144) |
| 72 | EVA_SVP | ss1713504257 | Apr 01, 2015 (144) |
| 73 | ILLUMINA | ss1752172490 | Sep 08, 2015 (146) |
| 74 | WEILL_CORNELL_DGM | ss1935385133 | Feb 12, 2016 (147) |
| 75 | ILLUMINA | ss1959628676 | Feb 12, 2016 (147) |
| 76 | GENOMED | ss1968152663 | Jul 19, 2016 (147) |
| 77 | JJLAB | ss2028474142 | Sep 14, 2016 (149) |
| 78 | ILLUMINA | ss2094798443 | Dec 20, 2016 (150) |
| 79 | ILLUMINA | ss2095060252 | Dec 20, 2016 (150) |
| 80 | USC_VALOUEV | ss2156882693 | Dec 20, 2016 (150) |
| 81 | HUMAN_LONGEVITY | ss2208362371 | Dec 20, 2016 (150) |
| 82 | ILLUMINA | ss2633253978 | Nov 08, 2017 (151) |
| 83 | ILLUMINA | ss2635059730 | Nov 08, 2017 (151) |
| 84 | GRF | ss2701363292 | Nov 08, 2017 (151) |
| 85 | ILLUMINA | ss2710821053 | Nov 08, 2017 (151) |
| 86 | GNOMAD | ss2741435479 | Nov 08, 2017 (151) |
| 87 | GNOMAD | ss2749362088 | Nov 08, 2017 (151) |
| 88 | GNOMAD | ss2937110693 | Nov 08, 2017 (151) |
| 89 | AFFY | ss2985047758 | Nov 08, 2017 (151) |
| 90 | AFFY | ss2985683920 | Nov 08, 2017 (151) |
| 91 | SWEGEN | ss3013594075 | Nov 08, 2017 (151) |
| 92 | ILLUMINA | ss3021651901 | Nov 08, 2017 (151) |
| 93 | BIOINF_KMB_FNS_UNIBA | ss3028061344 | Nov 08, 2017 (151) |
| 94 | CSHL | ss3351199668 | Nov 08, 2017 (151) |
| 95 | ILLUMINA | ss3625678966 | Oct 12, 2018 (152) |
| 96 | ILLUMINA | ss3627406767 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3631245082 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3633103685 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3633808613 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3634616130 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3635497383 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3636306541 | Oct 12, 2018 (152) |
| 103 | ILLUMINA | ss3637248695 | Oct 12, 2018 (152) |
| 104 | ILLUMINA | ss3638097037 | Oct 12, 2018 (152) |
| 105 | ILLUMINA | ss3639061033 | Oct 12, 2018 (152) |
| 106 | ILLUMINA | ss3639536015 | Oct 12, 2018 (152) |
| 107 | ILLUMINA | ss3640323451 | Oct 12, 2018 (152) |
| 108 | ILLUMINA | ss3643080479 | Oct 12, 2018 (152) |
| 109 | ILLUMINA | ss3644652555 | Oct 12, 2018 (152) |
| 110 | OMUKHERJEE_ADBS | ss3646478153 | Oct 12, 2018 (152) |
| 111 | ILLUMINA | ss3652053671 | Oct 12, 2018 (152) |
| 112 | ILLUMINA | ss3653820045 | Oct 12, 2018 (152) |
| 113 | EGCUT_WGS | ss3680735443 | Jul 13, 2019 (153) |
| 114 | EVA_DECODE | ss3698269901 | Jul 13, 2019 (153) |
| 115 | ILLUMINA | ss3725516545 | Jul 13, 2019 (153) |
| 116 | ACPOP | ss3741087602 | Jul 13, 2019 (153) |
| 117 | ILLUMINA | ss3744916652 | Jul 13, 2019 (153) |
| 118 | EVA | ss3753326002 | Jul 13, 2019 (153) |
| 119 | PAGE_CC | ss3771843516 | Jul 13, 2019 (153) |
| 120 | ILLUMINA | ss3772415199 | Jul 13, 2019 (153) |
| 121 | KHV_HUMAN_GENOMES | ss3818629958 | Jul 13, 2019 (153) |
| 122 | EVA | ss3824943869 | Apr 27, 2020 (154) |
| 123 | EVA | ss3825864195 | Apr 27, 2020 (154) |
| 124 | EVA | ss3834329332 | Apr 27, 2020 (154) |
| 125 | EVA | ss3840764283 | Apr 27, 2020 (154) |
| 126 | EVA | ss3846254272 | Apr 27, 2020 (154) |
| 127 | HGDP | ss3847529763 | Apr 27, 2020 (154) |
| 128 | SGDP_PRJ | ss3883314327 | Apr 27, 2020 (154) |
| 129 | KRGDB | ss3932543546 | Apr 27, 2020 (154) |
| 130 | FSA-LAB | ss3984078454 | Apr 27, 2021 (155) |
| 131 | EVA | ss3984704404 | Apr 27, 2021 (155) |
| 132 | EVA | ss3985728209 | Apr 27, 2021 (155) |
| 133 | EVA | ss3986658278 | Apr 27, 2021 (155) |
| 134 | EVA | ss4017711881 | Apr 27, 2021 (155) |
| 135 | TOPMED | ss4998155695 | Apr 27, 2021 (155) |
| 136 | TOMMO_GENOMICS | ss5217094841 | Apr 27, 2021 (155) |
| 137 | EVA | ss5236926100 | Apr 27, 2021 (155) |
| 138 | EVA | ss5237231094 | Apr 27, 2021 (155) |
| 139 | EVA | ss5237664546 | Oct 16, 2022 (156) |
| 140 | 1000G_HIGH_COVERAGE | ss5299113882 | Oct 16, 2022 (156) |
| 141 | TRAN_CS_UWATERLOO | ss5314441853 | Oct 16, 2022 (156) |
| 142 | EVA | ss5315798761 | Oct 16, 2022 (156) |
| 143 | EVA | ss5420470261 | Oct 16, 2022 (156) |
| 144 | HUGCELL_USP | ss5492771652 | Oct 16, 2022 (156) |
| 145 | EVA | ss5511491017 | Oct 16, 2022 (156) |
| 146 | 1000G_HIGH_COVERAGE | ss5600853259 | Oct 16, 2022 (156) |
| 147 | EVA | ss5623965160 | Oct 16, 2022 (156) |
| 148 | EVA | ss5624055494 | Oct 16, 2022 (156) |
| 149 | SANFORD_IMAGENETICS | ss5624365874 | Oct 16, 2022 (156) |
| 150 | SANFORD_IMAGENETICS | ss5657887446 | Oct 16, 2022 (156) |
| 151 | TOMMO_GENOMICS | ss5771171130 | Oct 16, 2022 (156) |
| 152 | EVA | ss5799454419 | Oct 16, 2022 (156) |
| 153 | EVA | ss5799943162 | Oct 16, 2022 (156) |
| 154 | EVA | ss5800068445 | Oct 16, 2022 (156) |
| 155 | EVA | ss5800195304 | Oct 16, 2022 (156) |
| 156 | YY_MCH | ss5815502272 | Oct 16, 2022 (156) |
| 157 | EVA | ss5828461626 | Oct 16, 2022 (156) |
| 158 | EVA | ss5847750814 | Oct 16, 2022 (156) |
| 159 | EVA | ss5848408314 | Oct 16, 2022 (156) |
| 160 | EVA | ss5876651951 | Oct 16, 2022 (156) |
| 161 | EVA | ss5936561103 | Oct 16, 2022 (156) |
| 162 | EVA | ss5949305634 | Oct 16, 2022 (156) |
| 163 | EVA | ss5980883386 | Oct 16, 2022 (156) |
| 164 | 1000Genomes | NC_000015.9 - 78894339 | Oct 12, 2018 (152) |
| 165 | 1000Genomes_30x | NC_000015.10 - 78601997 | Oct 16, 2022 (156) |
| 166 | The Avon Longitudinal Study of Parents and Children | NC_000015.9 - 78894339 | Oct 12, 2018 (152) |
| 167 | Genetic variation in the Estonian population | NC_000015.9 - 78894339 | Oct 12, 2018 (152) |
| 168 | ExAC | NC_000015.9 - 78894339 | Oct 12, 2018 (152) |
| 169 | FINRISK | NC_000015.9 - 78894339 | Apr 27, 2020 (154) |
| 170 | The Danish reference pan genome | NC_000015.9 - 78894339 | Apr 27, 2020 (154) |
| 171 | gnomAD - Genomes | NC_000015.10 - 78601997 | Apr 27, 2021 (155) |
| 172 | gnomAD - Exomes | NC_000015.9 - 78894339 | Jul 13, 2019 (153) |
| 173 | GO Exome Sequencing Project | NC_000015.9 - 78894339 | Oct 12, 2018 (152) |
| 174 | Genome of the Netherlands Release 5 | NC_000015.9 - 78894339 | Apr 27, 2020 (154) |
| 175 | HGDP-CEPH-db Supplement 1 | NC_000015.8 - 76681394 | Apr 27, 2020 (154) |
| 176 | HapMap | NC_000015.10 - 78601997 | Apr 27, 2020 (154) |
| 177 | KOREAN population from KRGDB | NC_000015.9 - 78894339 | Apr 27, 2020 (154) |
| 178 | Medical Genome Project healthy controls from Spanish population | NC_000015.9 - 78894339 | Apr 27, 2020 (154) |
| 179 | Northern Sweden | NC_000015.9 - 78894339 | Jul 13, 2019 (153) |
| 180 | The PAGE Study | NC_000015.10 - 78601997 | Jul 13, 2019 (153) |
| 181 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000015.9 - 78894339 | Apr 27, 2021 (155) |
| 182 | CNV burdens in cranial meningiomas | NC_000015.9 - 78894339 | Apr 27, 2021 (155) |
| 183 | Qatari | NC_000015.9 - 78894339 | Apr 27, 2020 (154) |
| 184 | SGDP_PRJ | NC_000015.9 - 78894339 | Apr 27, 2020 (154) |
| 185 | Siberian | NC_000015.9 - 78894339 | Apr 27, 2020 (154) |
| 186 | 8.3KJPN | NC_000015.9 - 78894339 | Apr 27, 2021 (155) |
| 187 | 14KJPN | NC_000015.10 - 78601997 | Oct 16, 2022 (156) |
| 188 | TopMed | NC_000015.10 - 78601997 | Apr 27, 2021 (155) |
| 189 | UK 10K study - Twins | NC_000015.9 - 78894339 | Oct 12, 2018 (152) |
| 190 | ALFA | NC_000015.10 - 78601997 | Apr 27, 2021 (155) |
| 191 | ClinVar | RCV000019055.3 | Oct 16, 2022 (156) |
| 192 | ClinVar | RCV000033204.3 | Oct 16, 2022 (156) |
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) |
|---|---|
| rs17486992 | Oct 08, 2004 (123) |
| rs59313803 | May 25, 2008 (130) |
| rs117683679 | Aug 16, 2010 (132) |
| rs386514167 | Aug 21, 2014 (142) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 207655, ss108966814, ss207219787, ss255132764, ss286987132, ss410887974, ss479312924, ss491249729, ss491705171, ss825345086, ss1696008199, ss1713504257, ss2635059730, ss3639061033, ss3639536015, ss3643080479, ss3847529763 | NC_000015.8:76681393:G:A | NC_000015.10:78601996:G:A | (self) |
| 67330637, 37389944, 26473691, 2331565, 91990, 3933787, 10702652, 1401117, 16684419, 39720940, 521559, 14372467, 954136, 253929, 17427063, 35331307, 9399047, 75064148, 37389944, ss226987927, ss236845753, ss243220619, ss342409746, ss479316024, ss479700326, ss484456772, ss491088657, ss491497937, ss536622098, ss564593482, ss660330994, ss778360901, ss782674941, ss783643607, ss831925656, ss832648157, ss833238846, ss833815674, ss974492212, ss991981992, ss1067554683, ss1080267011, ss1354231316, ss1427685769, ss1577713203, ss1584095529, ss1633409666, ss1676403699, ss1691948724, ss1711405799, ss1752172490, ss1935385133, ss1959628676, ss1968152663, ss2028474142, ss2094798443, ss2095060252, ss2156882693, ss2633253978, ss2701363292, ss2710821053, ss2741435479, ss2749362088, ss2937110693, ss2985047758, ss2985683920, ss3013594075, ss3021651901, ss3351199668, ss3625678966, ss3627406767, ss3631245082, ss3633103685, ss3633808613, ss3634616130, ss3635497383, ss3636306541, ss3637248695, ss3638097037, ss3640323451, ss3644652555, ss3646478153, ss3652053671, ss3653820045, ss3680735443, ss3741087602, ss3744916652, ss3753326002, ss3772415199, ss3824943869, ss3825864195, ss3834329332, ss3840764283, ss3883314327, ss3932543546, ss3984078454, ss3984704404, ss3985728209, ss3986658278, ss4017711881, ss5217094841, ss5315798761, ss5420470261, ss5511491017, ss5623965160, ss5624055494, ss5624365874, ss5657887446, ss5799454419, ss5799943162, ss5800068445, ss5800195304, ss5828461626, ss5847750814, ss5848408314, ss5936561103, ss5949305634, ss5980883386 | NC_000015.9:78894338:G:A | NC_000015.10:78601996:G:A | (self) |
| RCV000019055.3, RCV000033204.3, 88379194, 474711113, 1299223, 1064985, 105008234, 213701355, 7448815897, ss1505810978, ss2208362371, ss3028061344, ss3698269901, ss3725516545, ss3771843516, ss3818629958, ss3846254272, ss4998155695, ss5236926100, ss5237231094, ss5237664546, ss5299113882, ss5314441853, ss5492771652, ss5600853259, ss5771171130, ss5815502272, ss5876651951 | NC_000015.10:78601996:G:A | NC_000015.10:78601996:G:A | (self) |
| ss16686526 | NT_010194.16:49684658:G:A | NC_000015.10:78601996:G:A | (self) |
| ss1527503, ss6752714, ss12586759, ss24450352, ss66633671, ss66894650, ss67002526, ss68382321, ss70375475, ss70490682, ss71015211, ss75505216, ss76901672, ss83674185, ss86272886, ss98336491, ss99307503, ss121363562, ss152786497, ss159135491, ss159731143, ss159908614, ss161151767, ss169545555, ss170343271, ss469414507, ss469415358, ss469996490 | NT_010194.17:49684895:G:A | NC_000015.10:78601996:G:A | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
290
citations for rs1051730
| 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 |
| 18385676 | Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1. | Amos CI et al. | 2008 | Nature genetics |
| 18385738 | A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. | Hung RJ et al. | 2008 | Nature |
| 18385739 | A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. | Thorgeirsson TE et al. | 2008 | Nature |
| 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 |
| 18565990 | Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence. | Saccone SF et al. | 2008 | Bioinformatics (Oxford, England) |
| 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 |
| 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 |
| 18759969 | In search of causal variants: refining disease association signals using cross-population contrasts. | Saccone NL et al. | 2008 | BMC genetics |
| 18780872 | Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer. | Liu P et al. | 2008 | Journal of the National Cancer Institute |
| 18957677 | The CHRNA5-A3 region on chromosome 15q24-25.1 is a risk factor both for nicotine dependence and for lung cancer. | Spitz MR et al. | 2008 | Journal of the National Cancer Institute |
| 18978790 | Lung cancer susceptibility locus at 5p15.33. | McKay JD et al. | 2008 | Nature genetics |
| 19005185 | Contribution of nicotine acetylcholine receptor polymorphisms to lung cancer risk in a smoking-independent manner in the Japanese. | Shiraishi K et al. | 2009 | Carcinogenesis |
| 19010884 | Smokers with the CHRNA lung cancer-associated variants are exposed to higher levels of nicotine equivalents and a carcinogenic tobacco-specific nitrosamine. | Le Marchand L et al. | 2008 | Cancer research |
| 19029397 | Nicotinic receptor gene variants influence susceptibility to heavy smoking. | Stevens VL et al. | 2008 | Cancer epidemiology, biomarkers & prevention |
| 19064933 | Chromosome 15q25.1 genetic markers associated with level of response to alcohol in humans. | Joslyn G et al. | 2008 | Proceedings of the National Academy of Sciences of the United States of America |
| 19132693 | Variants in nicotinic acetylcholine receptors alpha5 and alpha3 increase risks to nicotine dependence. | Chen X et al. | 2009 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 19247474 | Genome-wide and candidate gene association study of cigarette smoking behaviors. | Caporaso N et al. | 2009 | PloS one |
| 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 |
| 19300482 | A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci. | Pillai SG et al. | 2009 | PLoS genetics |
| 19300500 | A genome-wide association study of pulmonary function measures in the Framingham Heart Study. | Wilk JB et al. | 2009 | PLoS genetics |
| 19423719 | Update in lung cancer 2008. | Dubey S et al. | 2009 | American journal of respiratory and critical care medicine |
| 19429911 | A common genetic variant in the 15q24 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) is associated with a reduced ability of women to quit smoking in pregnancy. | Freathy RM et al. | 2009 | Human molecular genetics |
| 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 |
| 19465454 | The TERT-CLPTM1L lung cancer susceptibility variant associates with higher DNA adduct formation in the lung. | Zienolddiny S et al. | 2009 | Carcinogenesis |
| 19494806 | Dopamine genes and nicotine dependence in treatment-seeking and community smokers. | Bergen AW et al. | 2009 | Neuropsychopharmacology |
| 19569043 | Genome-wide association studies and the genetic dissection of complex traits. | Sebastiani P et al. | 2009 | American journal of hematology |
| 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 |
| 19639606 | Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases. | Zhong H et al. | 2010 | Genetic epidemiology |
| 19641473 | Racial differences in the association between SNPs on 15q25.1, smoking behavior, and risk of non-small cell lung cancer. | Schwartz AG et al. | 2009 | Journal of thoracic oncology |
| 19706762 | The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans. | Saccone NL et al. | 2009 | Cancer research |
| 19733931 | Blood-based CHRNA3 single nucleotide polymorphism and outcome in advanced non-small-cell lung cancer patients. | Carcereny E et al. | 2010 | Lung cancer (Amsterdam, Netherlands) |
| 19741265 | Genetics and genomics of chronic obstructive pulmonary disease. | Silverman EK et al. | 2009 | Proceedings of the American Thoracic Society |
| 19750184 | Genome-wide association studies for atherosclerotic vascular disease and its risk factors. | Ding K et al. | 2009 | Circulation. Cardiovascular genetics |
| 19800047 | Integration of genomic and genetic approaches implicates IREB2 as a COPD susceptibility gene. | DeMeo DL et al. | 2009 | American journal of human genetics |
| 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 |
| 19903803 | Re: Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk. | Spitz MR et al. | 2009 | Journal of the National Cancer Institute |
| 19951401 | Chronic obstructive pulmonary disease: towards pharmacogenetics. | Wood AM et al. | 2009 | Genome medicine |
| 20007924 | The 15q24/25 susceptibility variant for lung cancer and chronic obstructive pulmonary disease is associated with emphysema. | Lambrechts D et al. | 2010 | American journal of respiratory and critical care medicine |
| 20010834 | Genome-wide association study identifies five loci associated with lung function. | Repapi E et al. | 2010 | Nature genetics |
| 20010835 | Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. | Hancock DB et al. | 2010 | Nature genetics |
| 20068085 | Analysis of genetic variants in never-smokers with lung cancer facilitated by an Internet-based blood collection protocol: a preliminary report. | Girard N et al. | 2010 | Clinical cancer research |
| 20142248 | Cumulative effect of multiple loci on genetic susceptibility to familial lung cancer. | Liu P et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
| 20147892 | Convergent evidence that choline acetyltransferase gene variation is associated with prospective smoking cessation and nicotine dependence. | Ray R et al. | 2010 | Neuropsychopharmacology |
| 20158304 | A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations. | Lind PA et al. | 2010 | Twin research and human genetics |
| 20159342 | Genetics of addictions. | Hartz SM et al. | 2010 | The Psychiatric clinics of North America |
| 20348396 | A general framework for studying genetic effects and gene-environment interactions with missing data. | Hu YJ et al. | 2010 | Biostatistics (Oxford, England) |
| 20393456 | Sensorimotor gating is associated with CHRNA3 polymorphisms in schizophrenia and healthy volunteers. | Petrovsky N et al. | 2010 | Neuropsychopharmacology |
| 20395203 | A second genetic variant on chromosome 15q24-25.1 associates with lung cancer. | Liu P et al. | 2010 | Cancer research |
| 20418888 | Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. | Thorgeirsson TE et al. | 2010 | Nature genetics |
| 20418889 | Meta-analysis and imputation refines the association of 15q25 with smoking quantity. | Liu JZ et al. | 2010 | Nature genetics |
| 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 |
| 20564069 | Mediating effects of smoking and chronic obstructive pulmonary disease on the relation between the CHRNA5-A3 genetic locus and lung cancer risk. | Wang J et al. | 2010 | Cancer |
| 20581870 | From smoking to lung cancer: the CHRNA5/A3/B4 connection. | Improgo MR et al. | 2010 | Oncogene |
| 20585100 | Genome-wide association studies of cancer. | Stadler ZK et al. | 2010 | Journal of clinical oncology |
| 20631687 | Variation in the nicotinic acetylcholine receptor gene cluster CHRNA5-CHRNA3-CHRNB4 and its interaction with recent tobacco use influence cognitive flexibility. | Zhang H et al. | 2010 | Neuropsychopharmacology |
| 20643934 | A genetically modulated, intrinsic cingulate circuit supports human nicotine addiction. | Hong LE et al. | 2010 | Proceedings of the National Academy of Sciences of the United States of America |
| 20656943 | Loci identified by genome-wide association studies influence different disease-related phenotypes in chronic obstructive pulmonary disease. | Pillai SG et al. | 2010 | American journal of respiratory and critical care medicine |
| 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 |
| 20832656 | Genetics of addictions. | Hartz SM et al. | 2010 | Clinics in laboratory medicine |
| 20886544 | Risk gene variants for nicotine dependence in the CHRNA5-CHRNA3-CHRNB4 cluster are associated with cognitive performance. | Winterer G et al. | 2010 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 21079997 | Uncovering hidden variance: pair-wise SNP analysis accounts for additional variance in nicotine dependence. | Culverhouse RC et al. | 2011 | Human genetics |
| 21081471 | Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study. | Gago-Dominguez M et al. | 2011 | Carcinogenesis |
| 21168125 | TTC12-ANKK1-DRD2 and CHRNA5-CHRNA3-CHRNB4 influence different pathways leading to smoking behavior from adolescence to mid-adulthood. | Ducci F et al. | 2011 | Biological psychiatry |
| 21191315 | Genetic association of bipolar disorder with the β(3) nicotinic receptor subunit gene. | Hartz SM et al. | 2011 | Psychiatric genetics |
| 21219822 | [Recent progress in genetic variants associated with cancer and their implications in diagnostics development]. | Cho WC et al. | 2011 | Zhongguo fei ai za zhi = Chinese journal of lung cancer |
| 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 |
| 21232152 | Epidemiology, radiology, and genetics of nicotine dependence in COPD. | Kim DK et al. | 2011 | Respiratory research |
| 21248747 | Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. | Sorice R et al. | 2011 | European journal of human genetics |
| 21268243 | Markers in the 15q24 nicotinic receptor subunit gene cluster (CHRNA5-A3-B4) predict severity of nicotine addiction and response to smoking cessation therapy. | Sarginson JE et al. | 2011 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 21296624 | An analysis of single nucleotide polymorphisms of 125 DNA repair genes in the Texas genome-wide association study of lung cancer with a replication for the XRCC4 SNPs. | Yu H et al. | 2011 | DNA repair |
| 21320324 | The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study. | Chappell SL et al. | 2011 | BMC medical genetics |
| 21357676 | Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption. | Sulem P et al. | 2011 | Human molecular genetics |
| 21385908 | Association of the nicotine metabolite ratio and CHRNA5/CHRNA3 polymorphisms with smoking rate among treatment-seeking smokers. | Falcone M et al. | 2011 | Nicotine & tobacco research |
| 21424681 | Peripheral arterial disease in diabetes: is there a role for genetics? | Katwal AB et al. | 2011 | Current diabetes reports |
| 21430647 | The galanin receptor 1 gene associates with tobacco craving in smokers seeking cessation treatment. | Lori A et al. | 2011 | Neuropsychopharmacology |
| 21436384 | Genetic variability of smoking persistence in African Americans. | Hamidovic A et al. | 2011 | Cancer prevention research (Philadelphia, Pa.) |
| 21438146 | Dysfunctional gene splicing as a potential contributor to neuropsychiatric disorders. | Glatt SJ et al. | 2011 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 21498873 | Associations of nicotine intake measures with CHRN genes in Finnish smokers. | Keskitalo-Vuokko K et al. | 2011 | Nicotine & tobacco research |
| 21559498 | Chromosome 15q25 (CHRNA3-CHRNA5) variation impacts indirectly on lung cancer risk. | Wang Y et al. | 2011 | PloS one |
| 21593077 | Genetic variation at CHRNA5-CHRNA3-CHRNB4 interacts with smoking status to influence body mass index. | Freathy RM et al. | 2011 | International journal of epidemiology |
| 21606948 | Varenicline for smoking cessation: nausea severity and variation in nicotinic receptor genes. | Swan GE et al. | 2012 | The pharmacogenomics journal |
| 21645942 | Association of smoking with tumor size at diagnosis in non-small cell lung cancer. | Chen X et al. | 2011 | Lung cancer (Amsterdam, Netherlands) |
| 21646606 | Nicotinic acetylcholine receptor polymorphism, smoking behavior, and tobacco-related cancer and lung and cardiovascular diseases: a cohort study. | Kaur-Knudsen D et al. | 2011 | Journal of clinical oncology |
| 21685187 | Genome-wide association study of smoking behaviours in patients with COPD. | Siedlinski M et al. | 2011 | Thorax |
| 21690317 | CHRNA3 rs1051730 genotype and short-term smoking cessation. | Munafò MR et al. | 2011 | Nicotine & tobacco research |
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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
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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.
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.