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.
rs6495309
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr15:78622903 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>A / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.279799 (74060/264690, TOPMED)T=0.256486 (35647/138982, GnomAD)T=0.233398 (26296/112666, ALFA) (+ 20 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- CHRNA3 : 2KB Upstream Variant
- Publications
- 45 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 |
|---|---|---|---|---|
| Total | Global | 112666 | C=0.766602 | A=0.000000, T=0.233398 |
| European | Sub | 93632 | C=0.78269 | A=0.00000, T=0.21731 |
| African | Sub | 7174 | C=0.7575 | A=0.0000, T=0.2425 |
| African Others | Sub | 242 | C=0.781 | A=0.000, T=0.219 |
| African American | Sub | 6932 | C=0.7566 | A=0.0000, T=0.2434 |
| Asian | Sub | 268 | C=0.597 | A=0.000, T=0.403 |
| East Asian | Sub | 226 | C=0.597 | A=0.000, T=0.403 |
| Other Asian | Sub | 42 | C=0.60 | A=0.00, T=0.40 |
| Latin American 1 | Sub | 254 | C=0.681 | A=0.000, T=0.319 |
| Latin American 2 | Sub | 1232 | C=0.4700 | A=0.0000, T=0.5300 |
| South Asian | Sub | 4960 | C=0.5808 | A=0.0000, T=0.4192 |
| Other | Sub | 5146 | C=0.7497 | A=0.0000, T=0.2503 |
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=0.720201 | T=0.279799 |
| gnomAD - Genomes | Global | Study-wide | 138982 | C=0.743514 | T=0.256486 |
| gnomAD - Genomes | European | Sub | 75292 | C=0.77868 | T=0.22132 |
| gnomAD - Genomes | African | Sub | 41562 | C=0.74840 | T=0.25160 |
| gnomAD - Genomes | American | Sub | 13542 | C=0.56757 | T=0.43243 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | C=0.7903 | T=0.2097 |
| gnomAD - Genomes | East Asian | Sub | 3122 | C=0.5602 | T=0.4398 |
| gnomAD - Genomes | Other | Sub | 2140 | C=0.7196 | T=0.2804 |
| Allele Frequency Aggregator | Total | Global | 112666 | C=0.766602 | A=0.000000, T=0.233398 |
| Allele Frequency Aggregator | European | Sub | 93632 | C=0.78269 | A=0.00000, T=0.21731 |
| Allele Frequency Aggregator | African | Sub | 7174 | C=0.7575 | A=0.0000, T=0.2425 |
| Allele Frequency Aggregator | Other | Sub | 5146 | C=0.7497 | A=0.0000, T=0.2503 |
| Allele Frequency Aggregator | South Asian | Sub | 4960 | C=0.5808 | A=0.0000, T=0.4192 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 1232 | C=0.4700 | A=0.0000, T=0.5300 |
| Allele Frequency Aggregator | Asian | Sub | 268 | C=0.597 | A=0.000, T=0.403 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 254 | C=0.681 | A=0.000, T=0.319 |
| 14KJPN | JAPANESE | Study-wide | 28258 | C=0.47809 | T=0.52191 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.47226 | T=0.52774 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.6332 | T=0.3668 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.7363 | T=0.2637 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.7773 | T=0.2227 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.5466 | T=0.4534 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.5453 | T=0.4547 |
| 1000Genomes_30x | American | Sub | 980 | C=0.470 | T=0.530 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.6300 | T=0.3700 |
| 1000Genomes | African | Sub | 1322 | C=0.7360 | T=0.2640 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.5387 | T=0.4613 |
| 1000Genomes | Europe | Sub | 1006 | C=0.7694 | T=0.2306 |
| 1000Genomes | South Asian | Sub | 978 | C=0.544 | T=0.456 |
| 1000Genomes | American | Sub | 694 | C=0.480 | T=0.520 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.7621 | T=0.2379 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.7802 | T=0.2198 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.7872 | T=0.2128 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.5334 | T=0.4666 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | C=0.5816 | T=0.4184 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | C=0.509 | T=0.491 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | C=0.616 | T=0.384 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | C=0.666 | T=0.334 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | C=0.759 | T=0.241 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | C=0.826 | T=0.174 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | C=0.171 | T=0.829 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | C=0.07 | T=0.93 |
| HapMap | Global | Study-wide | 1888 | C=0.6626 | T=0.3374 |
| HapMap | American | Sub | 766 | C=0.629 | T=0.371 |
| HapMap | African | Sub | 692 | C=0.723 | T=0.277 |
| HapMap | Asian | Sub | 254 | C=0.508 | T=0.492 |
| HapMap | Europe | Sub | 176 | C=0.795 | T=0.205 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | C=0.5098 | T=0.4902 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.777 | T=0.223 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 784 | C=0.585 | T=0.415 |
| CNV burdens in cranial meningiomas | CRM | Sub | 784 | C=0.585 | T=0.415 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.760 | T=0.240 |
| SGDP_PRJ | Global | Study-wide | 350 | C=0.329 | T=0.671 |
| Qatari | Global | Study-wide | 216 | C=0.764 | T=0.236 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 210 | C=0.600 | T=0.400 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 70 | C=0.86 | T=0.14 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.80 | T=0.20 |
| Siberian | Global | Study-wide | 18 | C=0.28 | T=0.72 |
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.78622903C>A |
| GRCh38.p14 chr 15 | NC_000015.10:g.78622903C>T |
| GRCh37.p13 chr 15 | NC_000015.9:g.78915245C>A |
| GRCh37.p13 chr 15 | NC_000015.9:g.78915245C>T |
| CHRNA3 RefSeqGene | NG_016143.1:g.3393G>T |
| CHRNA3 RefSeqGene | NG_016143.1:g.3393G>A |
Gene: CHRNA3, cholinergic receptor nicotinic alpha 3 subunit
(minus strand)
:
2KB Upstream Variant
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CHRNA3 transcript variant 1 | NM_000743.5:c. | N/A | Upstream Transcript Variant |
| CHRNA3 transcript variant 2 | NM_001166694.2:c. | N/A | Upstream Transcript Variant |
| CHRNA3 transcript variant 3 | NR_046313.2:n. | N/A | Upstream Transcript Variant |
| CHRNA3 transcript variant X1 | XM_006720382.4:c. | N/A | N/A |
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
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 | C= | A | T |
|---|---|---|---|
| GRCh38.p14 chr 15 | NC_000015.10:g.78622903= | NC_000015.10:g.78622903C>A | NC_000015.10:g.78622903C>T |
| GRCh37.p13 chr 15 | NC_000015.9:g.78915245= | NC_000015.9:g.78915245C>A | NC_000015.9:g.78915245C>T |
| CHRNA3 RefSeqGene | NG_016143.1:g.3393= | NG_016143.1:g.3393G>T | NG_016143.1:g.3393G>A |
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#.
99 SubSNP,
23 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | BCM_SSAHASNP | ss10764312 | Jul 11, 2003 (116) |
| 2 | WI_SSAHASNP | ss12309672 | Jul 11, 2003 (116) |
| 3 | ILLUMINA | ss66784102 | Nov 30, 2006 (127) |
| 4 | ILLUMINA | ss67462921 | Nov 30, 2006 (127) |
| 5 | ILLUMINA | ss67816631 | Nov 30, 2006 (127) |
| 6 | ILLUMINA | ss70868586 | May 24, 2008 (130) |
| 7 | ILLUMINA | ss71457066 | May 17, 2007 (127) |
| 8 | ILLUMINA | ss75777965 | Dec 07, 2007 (129) |
| 9 | ILLUMINA | ss79222981 | Dec 14, 2007 (130) |
| 10 | KRIBB_YJKIM | ss84490122 | Dec 14, 2007 (130) |
| 11 | BCMHGSC_JDW | ss90221378 | Mar 24, 2008 (129) |
| 12 | BGI | ss103254325 | Dec 01, 2009 (131) |
| 13 | 1000GENOMES | ss108966990 | Jan 23, 2009 (130) |
| 14 | ILLUMINA | ss122553323 | Dec 01, 2009 (131) |
| 15 | ENSEMBL | ss136445060 | Dec 01, 2009 (131) |
| 16 | ILLUMINA | ss154363786 | Dec 01, 2009 (131) |
| 17 | ILLUMINA | ss159539963 | Dec 01, 2009 (131) |
| 18 | COMPLETE_GENOMICS | ss171364850 | Jul 04, 2010 (132) |
| 19 | ILLUMINA | ss172135331 | Jul 04, 2010 (132) |
| 20 | ILLUMINA | ss174017688 | Jul 04, 2010 (132) |
| 21 | 1000GENOMES | ss211637507 | Jul 14, 2010 (132) |
| 22 | 1000GENOMES | ss226987986 | Jul 14, 2010 (132) |
| 23 | 1000GENOMES | ss236845808 | Jul 15, 2010 (132) |
| 24 | 1000GENOMES | ss243220681 | Jul 15, 2010 (132) |
| 25 | BL | ss255132921 | May 09, 2011 (134) |
| 26 | GMI | ss282327839 | May 04, 2012 (137) |
| 27 | GMI | ss286987175 | Apr 25, 2013 (138) |
| 28 | PJP | ss291757390 | May 09, 2011 (134) |
| 29 | ILLUMINA | ss410941350 | Sep 17, 2011 (135) |
| 30 | ILLUMINA | ss537356536 | Sep 08, 2015 (146) |
| 31 | TISHKOFF | ss564593563 | Apr 25, 2013 (138) |
| 32 | SSMP | ss660331131 | Apr 25, 2013 (138) |
| 33 | ILLUMINA | ss825553499 | Apr 01, 2015 (144) |
| 34 | ILLUMINA | ss833051171 | Jul 13, 2019 (153) |
| 35 | EVA-GONL | ss991982162 | Aug 21, 2014 (142) |
| 36 | JMKIDD_LAB | ss1080267105 | Aug 21, 2014 (142) |
| 37 | 1000GENOMES | ss1354231955 | Aug 21, 2014 (142) |
| 38 | DDI | ss1427685836 | Apr 01, 2015 (144) |
| 39 | EVA_GENOME_DK | ss1577713271 | Apr 01, 2015 (144) |
| 40 | EVA_UK10K_ALSPAC | ss1633409919 | Apr 01, 2015 (144) |
| 41 | EVA_UK10K_TWINSUK | ss1676403952 | Apr 01, 2015 (144) |
| 42 | EVA_DECODE | ss1696008343 | Apr 01, 2015 (144) |
| 43 | EVA_SVP | ss1713504268 | Apr 01, 2015 (144) |
| 44 | WEILL_CORNELL_DGM | ss1935385322 | Feb 12, 2016 (147) |
| 45 | ILLUMINA | ss1959628719 | Feb 12, 2016 (147) |
| 46 | GENOMED | ss1968152700 | Jul 19, 2016 (147) |
| 47 | JJLAB | ss2028474218 | Sep 14, 2016 (149) |
| 48 | USC_VALOUEV | ss2156882786 | Dec 20, 2016 (150) |
| 49 | HUMAN_LONGEVITY | ss2208363458 | Dec 20, 2016 (150) |
| 50 | SYSTEMSBIOZJU | ss2628732288 | Nov 08, 2017 (151) |
| 51 | ILLUMINA | ss2633254006 | Nov 08, 2017 (151) |
| 52 | GRF | ss2701363437 | Nov 08, 2017 (151) |
| 53 | ILLUMINA | ss2710821075 | Nov 08, 2017 (151) |
| 54 | GNOMAD | ss2937112732 | Nov 08, 2017 (151) |
| 55 | AFFY | ss2985684228 | Nov 08, 2017 (151) |
| 56 | SWEGEN | ss3013594441 | Nov 08, 2017 (151) |
| 57 | ILLUMINA | ss3021651940 | Nov 08, 2017 (151) |
| 58 | BIOINF_KMB_FNS_UNIBA | ss3028061393 | Nov 08, 2017 (151) |
| 59 | CSHL | ss3351199751 | Nov 08, 2017 (151) |
| 60 | ILLUMINA | ss3627406801 | Oct 12, 2018 (152) |
| 61 | ILLUMINA | ss3638097046 | Oct 12, 2018 (152) |
| 62 | ILLUMINA | ss3639061040 | Oct 12, 2018 (152) |
| 63 | ILLUMINA | ss3639536017 | Oct 12, 2018 (152) |
| 64 | ILLUMINA | ss3643080488 | Oct 12, 2018 (152) |
| 65 | ILLUMINA | ss3652053714 | Oct 12, 2018 (152) |
| 66 | EGCUT_WGS | ss3680735773 | Jul 13, 2019 (153) |
| 67 | EVA_DECODE | ss3698270226 | Jul 13, 2019 (153) |
| 68 | ILLUMINA | ss3725516577 | Jul 13, 2019 (153) |
| 69 | ACPOP | ss3741087766 | Jul 13, 2019 (153) |
| 70 | ILLUMINA | ss3744423415 | Jul 13, 2019 (153) |
| 71 | EVA | ss3753326205 | Jul 13, 2019 (153) |
| 72 | PACBIO | ss3787901443 | Jul 13, 2019 (153) |
| 73 | PACBIO | ss3792904438 | Jul 13, 2019 (153) |
| 74 | PACBIO | ss3797789019 | Jul 13, 2019 (153) |
| 75 | KHV_HUMAN_GENOMES | ss3818630177 | Jul 13, 2019 (153) |
| 76 | EVA | ss3834329419 | Apr 27, 2020 (154) |
| 77 | EVA | ss3840764360 | Apr 27, 2020 (154) |
| 78 | EVA | ss3846254351 | Apr 27, 2020 (154) |
| 79 | HGDP | ss3847529770 | Apr 27, 2020 (154) |
| 80 | SGDP_PRJ | ss3883314702 | Apr 27, 2020 (154) |
| 81 | KRGDB | ss3932544087 | Apr 27, 2020 (154) |
| 82 | KOGIC | ss3976541904 | Apr 27, 2020 (154) |
| 83 | EVA | ss3984704417 | Apr 27, 2021 (155) |
| 84 | EVA | ss3985728223 | Apr 27, 2021 (155) |
| 85 | TOPMED | ss4998161556 | Apr 27, 2021 (155) |
| 86 | TOMMO_GENOMICS | ss5217095825 | Apr 27, 2021 (155) |
| 87 | 1000G_HIGH_COVERAGE | ss5299114500 | Oct 16, 2022 (156) |
| 88 | EVA | ss5420471273 | Oct 16, 2022 (156) |
| 89 | HUGCELL_USP | ss5492772092 | Oct 16, 2022 (156) |
| 90 | EVA | ss5511491109 | Oct 16, 2022 (156) |
| 91 | 1000G_HIGH_COVERAGE | ss5600854151 | Oct 16, 2022 (156) |
| 92 | SANFORD_IMAGENETICS | ss5624365893 | Oct 16, 2022 (156) |
| 93 | SANFORD_IMAGENETICS | ss5657887809 | Oct 16, 2022 (156) |
| 94 | TOMMO_GENOMICS | ss5771172393 | Oct 16, 2022 (156) |
| 95 | YY_MCH | ss5815502471 | Oct 16, 2022 (156) |
| 96 | EVA | ss5828461874 | Oct 16, 2022 (156) |
| 97 | EVA | ss5851370655 | Oct 16, 2022 (156) |
| 98 | EVA | ss5876652523 | Oct 16, 2022 (156) |
| 99 | EVA | ss5949305954 | Oct 16, 2022 (156) |
| 100 | 1000Genomes | NC_000015.9 - 78915245 | Oct 12, 2018 (152) |
| 101 | 1000Genomes_30x | NC_000015.10 - 78622903 | Oct 16, 2022 (156) |
| 102 | The Avon Longitudinal Study of Parents and Children | NC_000015.9 - 78915245 | Oct 12, 2018 (152) |
| 103 | Genetic variation in the Estonian population | NC_000015.9 - 78915245 | Oct 12, 2018 (152) |
| 104 | The Danish reference pan genome | NC_000015.9 - 78915245 | Apr 27, 2020 (154) |
| 105 | gnomAD - Genomes | NC_000015.10 - 78622903 | Apr 27, 2021 (155) |
| 106 | Genome of the Netherlands Release 5 | NC_000015.9 - 78915245 | Apr 27, 2020 (154) |
| 107 | HGDP-CEPH-db Supplement 1 | NC_000015.8 - 76702300 | Apr 27, 2020 (154) |
| 108 | HapMap | NC_000015.10 - 78622903 | Apr 27, 2020 (154) |
| 109 | KOREAN population from KRGDB | NC_000015.9 - 78915245 | Apr 27, 2020 (154) |
| 110 | Korean Genome Project | NC_000015.10 - 78622903 | Apr 27, 2020 (154) |
| 111 | Northern Sweden | NC_000015.9 - 78915245 | Jul 13, 2019 (153) |
| 112 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000015.9 - 78915245 | Apr 27, 2021 (155) |
| 113 | CNV burdens in cranial meningiomas | NC_000015.9 - 78915245 | Apr 27, 2021 (155) |
| 114 | Qatari | NC_000015.9 - 78915245 | Apr 27, 2020 (154) |
| 115 | SGDP_PRJ | NC_000015.9 - 78915245 | Apr 27, 2020 (154) |
| 116 | Siberian | NC_000015.9 - 78915245 | Apr 27, 2020 (154) |
| 117 | 8.3KJPN | NC_000015.9 - 78915245 | Apr 27, 2021 (155) |
| 118 | 14KJPN | NC_000015.10 - 78622903 | Oct 16, 2022 (156) |
| 119 | TopMed | NC_000015.10 - 78622903 | Apr 27, 2021 (155) |
| 120 | UK 10K study - Twins | NC_000015.9 - 78915245 | Oct 12, 2018 (152) |
| 121 | A Vietnamese Genetic Variation Database | NC_000015.9 - 78915245 | Jul 13, 2019 (153) |
| 122 | ALFA | NC_000015.10 - 78622903 | Apr 27, 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) |
|---|---|
| rs58000357 | May 24, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 13700256425 | NC_000015.10:78622902:C:A | NC_000015.10:78622902:C:A | (self) |
| 207662, ss90221378, ss108966990, ss171364850, ss211637507, ss255132921, ss282327839, ss286987175, ss291757390, ss825553499, ss1696008343, ss1713504268, ss3639061040, ss3639536017, ss3643080488, ss3847529770 | NC_000015.8:76702299:C:T | NC_000015.10:78622902:C:T | (self) |
| 67331309, 37390258, 26474021, 3933852, 16684566, 39721481, 14372631, 954150, 253942, 17427252, 35331682, 9399140, 75065132, 37390258, 8312243, ss226987986, ss236845808, ss243220681, ss537356536, ss564593563, ss660331131, ss833051171, ss991982162, ss1080267105, ss1354231955, ss1427685836, ss1577713271, ss1633409919, ss1676403952, ss1935385322, ss1959628719, ss1968152700, ss2028474218, ss2156882786, ss2628732288, ss2633254006, ss2701363437, ss2710821075, ss2937112732, ss2985684228, ss3013594441, ss3021651940, ss3351199751, ss3627406801, ss3638097046, ss3652053714, ss3680735773, ss3741087766, ss3744423415, ss3753326205, ss3787901443, ss3792904438, ss3797789019, ss3834329419, ss3840764360, ss3883314702, ss3932544087, ss3984704417, ss3985728223, ss5217095825, ss5420471273, ss5511491109, ss5624365893, ss5657887809, ss5828461874, ss5949305954 | NC_000015.9:78915244:C:T | NC_000015.10:78622902:C:T | (self) |
| 88380086, 474715839, 1299246, 32919905, 105009497, 213707216, 13700256425, ss2208363458, ss3028061393, ss3698270226, ss3725516577, ss3818630177, ss3846254351, ss3976541904, ss4998161556, ss5299114500, ss5492772092, ss5600854151, ss5771172393, ss5815502471, ss5851370655, ss5876652523 | NC_000015.10:78622902:C:T | NC_000015.10:78622902:C:T | (self) |
| ss10764312, ss12309672 | NT_010194.15:49701644:C:T | NC_000015.10:78622902:C:T | (self) |
| ss66784102, ss67462921, ss67816631, ss70868586, ss71457066, ss75777965, ss79222981, ss84490122, ss103254325, ss122553323, ss136445060, ss154363786, ss159539963, ss172135331, ss174017688, ss410941350 | NT_010194.17:49705801:C:T | NC_000015.10:78622902:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
45
citations for rs6495309
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 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 |
| 19330903 | Gene by smoking interaction in hypertension: identification of a major quantitative trait locus on chromosome 15q for systolic blood pressure in Mexican-Americans. | Montasser ME et al. | 2009 | Journal of hypertension |
| 19491260 | Genetic variants on chromosome 15q25 associated with lung cancer risk in Chinese populations. | Wu C et al. | 2009 | Cancer research |
| 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 |
| 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 |
| 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 |
| 20485328 | Variation in nicotinic acetylcholine receptor genes is associated with multiple substance dependence phenotypes. | Sherva R et al. | 2010 | Neuropsychopharmacology |
| 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 |
| 20808433 | Associations of variants in CHRNA5/A3/B4 gene cluster with smoking behaviors in a Korean population. | Li MD et al. | 2010 | PloS one |
| 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 |
| 21229299 | Chromosome 15q24-25.1 variants, diet, and lung cancer susceptibility in cigarette smokers. | Sakoda LC et al. | 2011 | Cancer causes & control |
| 21487324 | Genetic effects and modifiers of radiotherapy and chemotherapy on survival in pancreatic cancer. | Zeng H et al. | 2011 | Pancreas |
| 21559498 | Chromosome 15q25 (CHRNA3-CHRNA5) variation impacts indirectly on lung cancer risk. | Wang Y et al. | 2011 | PloS one |
| 21808284 | Gender-stratified gene and gene-treatment interactions in smoking cessation. | Lee W et al. | 2012 | The pharmacogenomics journal |
| 21949713 | Genetics of sputum gene expression in chronic obstructive pulmonary disease. | Qiu W et al. | 2011 | PloS one |
| 22048466 | Smoking cessation pharmacogenetics: analysis of varenicline and bupropion in placebo-controlled clinical trials. | King DP et al. | 2012 | Neuropsychopharmacology |
| 22404340 | Replication of results of genome-wide association studies on lung cancer susceptibility loci in a Korean population. | Bae EY et al. | 2012 | Respirology (Carlton, Vic.) |
| 22899653 | Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls. | Timofeeva MN et al. | 2012 | Human molecular genetics |
| 23029550 | Associations between variation in CHRNA5-CHRNA3-CHRNB4, body mass index and blood pressure in the Northern Finland Birth Cohort 1966. | Kaakinen M et al. | 2012 | PloS one |
| 23056235 | Functional polymorphisms of CHRNA3 predict risks of chronic obstructive pulmonary disease and lung cancer in Chinese. | Yang L et al. | 2012 | PloS one |
| 23255854 | A functional polymorphism in the CHRNA3 gene and risk of chronic obstructive pulmonary disease in a Korean population. | Lee JY et al. | 2012 | Journal of Korean medical science |
| 23397474 | Polymorphisms of CHRNA5-CHRNA3-CHRNB4 Gene Cluster and NSCLC Risk in Chinese Population. | Li Z et al. | 2012 | Translational oncology |
| 23689675 | Genetic risk for nicotine dependence in the cholinergic system and activation of the brain reward system in healthy adolescents. | Nees F et al. | 2013 | Neuropsychopharmacology |
| 23872218 | Functional characterization of SNPs in CHRNA3/B4 intergenic region associated with drug behaviors. | Flora AV et al. | 2013 | Brain research |
| 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 |
| 24667010 | Nicotine dependence as a moderator of genetic influences on smoking cessation treatment outcome. | Leventhal AM et al. | 2014 | Drug and alcohol dependence |
| 24686516 | CHRNA3 polymorphism modifies lung adenocarcinoma risk in the Chinese Han population. | He P et al. | 2014 | International journal of molecular sciences |
| 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 |
| 25233467 | Role of nicotine dependence on the relationship between variants in the nicotinic receptor genes and risk of lung adenocarcinoma. | Tseng TS et al. | 2014 | PloS one |
| 25288178 | The association between the rs6495309 polymorphism in CHRNA3 gene and lung cancer risk in Chinese: a meta-analysis. | Xiao M et al. | 2014 | Scientific reports |
| 25302169 | Acetylcholine receptor pathway in lung cancer: New twists to an old story. | Niu XM et al. | 2014 | World journal of clinical oncology |
| 26831765 | Association between two CHRNA3 variants and susceptibility of lung cancer: a meta-analysis. | Qu X et al. | 2016 | Scientific reports |
| 26981122 | The Oncogenic Functions of Nicotinic Acetylcholine Receptors. | Zhao Y et al. | 2016 | Journal of oncology |
| 27050379 | Genetic variants of CHRNA5-A3 and CHRNB3-A6 predict survival of patients with advanced non-small cell lung cancer. | Wang Y et al. | 2016 | Oncotarget |
| 27162544 | Combining Telomerase Reverse Transcriptase Genetic Variant rs2736100 with Epidemiologic Factors in the Prediction of Lung Cancer Susceptibility. | Wang X et al. | 2016 | Journal of Cancer |
| 27230571 | Different dietary patterns and reduction of lung cancer risk: A large case-control study in the U.S. | Tu H et al. | 2016 | Scientific reports |
| 28181565 | Genetic susceptibility variants for lung cancer: replication study and assessment as expression quantitative trait loci. | Pintarelli G et al. | 2017 | Scientific reports |
| 28474623 | IREB2, CHRNA5, CHRNA3, FAM13A & hedgehog interacting protein genes polymorphisms & risk of chronic obstructive pulmonary disease in Tatar population from Russia. | Korytina GF et al. | 2016 | The Indian journal of medical research |
| 28827732 | Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies. | Wang J et al. | 2017 | Scientific reports |
| 29416783 | Study on polymorphisms in CHRNA5/CHRNA3/CHRNB4 gene cluster and the associated with the risk of non-small cell lung cancer. | Sun Y et al. | 2018 | Oncotarget |
| 31270413 | ||||
| 32104210 | Inherited lung cancer: a review. | de Alencar VTL et al. | 2020 | Ecancermedicalscience |
| 33578531 | The relationship between CHRNA5/A3/B4 gene cluster polymorphisms and lung cancer risk: An updated meta-analysis and systematic review. | Yi X et al. | 2021 | Medicine |
| 34540891 | Umbrella Review on Associations Between Single Nucleotide Polymorphisms and Lung Cancer Risk. | Li X et al. | 2021 | Frontiers in molecular biosciences |
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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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.