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.
rs1948
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr15:78625057 (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
- A>G / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.285768 (75640/264690, TOPMED)A=0.306167 (74962/244840, GnomAD_exome)A=0.330824 (65576/198220, ALFA) (+ 24 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- CHRNB4 : Synonymous Variant
- Publications
- 41 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 | 198220 | A=0.330824 | G=0.669176, T=0.000000 |
| European | Sub | 172058 | A=0.340019 | G=0.659981, T=0.000000 |
| African | Sub | 5032 | A=0.2643 | G=0.7357, T=0.0000 |
| African Others | Sub | 166 | A=0.241 | G=0.759, T=0.000 |
| African American | Sub | 4866 | A=0.2651 | G=0.7349, T=0.0000 |
| Asian | Sub | 684 | A=0.507 | G=0.493, T=0.000 |
| East Asian | Sub | 522 | A=0.517 | G=0.483, T=0.000 |
| Other Asian | Sub | 162 | A=0.475 | G=0.525, T=0.000 |
| Latin American 1 | Sub | 714 | A=0.296 | G=0.704, T=0.000 |
| Latin American 2 | Sub | 6306 | A=0.1627 | G=0.8373, T=0.0000 |
| South Asian | Sub | 4950 | A=0.3024 | G=0.6976, T=0.0000 |
| Other | Sub | 8476 | A=0.3141 | G=0.6859, T=0.0000 |
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 | A=0.285768 | G=0.714232 |
| gnomAD - Exomes | Global | Study-wide | 244840 | A=0.306167 | G=0.693833 |
| gnomAD - Exomes | European | Sub | 129614 | A=0.338999 | G=0.661001 |
| gnomAD - Exomes | Asian | Sub | 48852 | A=0.36293 | G=0.63707 |
| gnomAD - Exomes | American | Sub | 34504 | A=0.13906 | G=0.86094 |
| gnomAD - Exomes | African | Sub | 15796 | A=0.21835 | G=0.78165 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10018 | A=0.31384 | G=0.68616 |
| gnomAD - Exomes | Other | Sub | 6056 | A=0.3141 | G=0.6859 |
| Allele Frequency Aggregator | Total | Global | 198220 | A=0.330824 | G=0.669176, T=0.000000 |
| Allele Frequency Aggregator | European | Sub | 172058 | A=0.340019 | G=0.659981, T=0.000000 |
| Allele Frequency Aggregator | Other | Sub | 8476 | A=0.3141 | G=0.6859, T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 6306 | A=0.1627 | G=0.8373, T=0.0000 |
| Allele Frequency Aggregator | African | Sub | 5032 | A=0.2643 | G=0.7357, T=0.0000 |
| Allele Frequency Aggregator | South Asian | Sub | 4950 | A=0.3024 | G=0.6976, T=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 714 | A=0.296 | G=0.704, T=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 684 | A=0.507 | G=0.493, T=0.000 |
| gnomAD - Genomes | Global | Study-wide | 140010 | A=0.294965 | G=0.705035 |
| gnomAD - Genomes | European | Sub | 75810 | A=0.34058 | G=0.65942 |
| gnomAD - Genomes | African | Sub | 41958 | A=0.22165 | G=0.77835 |
| gnomAD - Genomes | American | Sub | 13648 | A=0.21417 | G=0.78583 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3316 | A=0.3275 | G=0.6725 |
| gnomAD - Genomes | East Asian | Sub | 3130 | A=0.4882 | G=0.5118 |
| gnomAD - Genomes | Other | Sub | 2148 | A=0.2989 | G=0.7011 |
| ExAC | Global | Study-wide | 119328 | A=0.308989 | G=0.691011 |
| ExAC | Europe | Sub | 72006 | A=0.33371 | G=0.66629 |
| ExAC | Asian | Sub | 24968 | A=0.35818 | G=0.64182 |
| ExAC | American | Sub | 11508 | A=0.12374 | G=0.87626 |
| ExAC | African | Sub | 9956 | A=0.2202 | G=0.7798 |
| ExAC | Other | Sub | 890 | A=0.318 | G=0.682 |
| 14KJPN | JAPANESE | Study-wide | 28258 | A=0.40781 | G=0.59219 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.40089 | G=0.59911 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.2965 | G=0.7035 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.2156 | G=0.7844 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.3096 | G=0.6904 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.3353 | G=0.6647 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.4880 | G=0.5120 |
| 1000Genomes_30x | American | Sub | 980 | A=0.151 | G=0.849 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.3051 | G=0.6949 |
| 1000Genomes | African | Sub | 1322 | A=0.2186 | G=0.7814 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.4812 | G=0.5188 |
| 1000Genomes | Europe | Sub | 1006 | A=0.3191 | G=0.6809 |
| 1000Genomes | South Asian | Sub | 978 | A=0.333 | G=0.667 |
| 1000Genomes | American | Sub | 694 | A=0.154 | G=0.846 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.3522 | G=0.6478 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.3555 | G=0.6445 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.3643 | G=0.6357 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2928 | A=0.4450 | G=0.5550 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | A=0.2596 | G=0.7404 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | A=0.421 | G=0.579 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | A=0.258 | G=0.742 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | A=0.206 | G=0.794 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | A=0.306 | G=0.694 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | A=0.260 | G=0.740 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | A=0.005 | G=0.995 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | A=0.03 | G=0.97 |
| HapMap | Global | Study-wide | 1882 | A=0.2853 | G=0.7147 |
| HapMap | American | Sub | 766 | A=0.309 | G=0.691 |
| HapMap | African | Sub | 690 | A=0.188 | G=0.812 |
| HapMap | Asian | Sub | 250 | A=0.464 | G=0.536 |
| HapMap | Europe | Sub | 176 | A=0.307 | G=0.693 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.4312 | G=0.5688 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.347 | G=0.653 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 786 | A=0.509 | G=0.491 |
| CNV burdens in cranial meningiomas | CRM | Sub | 786 | A=0.509 | G=0.491 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.340 | G=0.660 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.513 | G=0.487 |
| SGDP_PRJ | Global | Study-wide | 500 | A=0.206 | G=0.794 |
| FINRISK | Finnish from FINRISK project | Study-wide | 302 | A=0.331 | G=0.669 |
| Qatari | Global | Study-wide | 216 | A=0.282 | G=0.718 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 210 | A=0.567 | G=0.433 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 80 | A=0.53 | G=0.47 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.28 | G=0.72 |
| Siberian | Global | Study-wide | 38 | A=0.21 | G=0.79 |
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.78625057A>G |
| GRCh38.p14 chr 15 | NC_000015.10:g.78625057A>T |
| GRCh37.p13 chr 15 | NC_000015.9:g.78917399A>G |
| GRCh37.p13 chr 15 | NC_000015.9:g.78917399A>T |
| CHRNA3 RefSeqGene | NG_016143.1:g.1239T>C |
| CHRNA3 RefSeqGene | NG_016143.1:g.1239T>A |
Gene: CHRNB4, cholinergic receptor nicotinic beta 4 subunit
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CHRNB4 transcript variant 1 | NM_000750.5:c.*76= | N/A | 3 Prime UTR Variant |
| CHRNB4 transcript variant 2 | NM_001256567.3:c.594T>C | A [GCT] > A [GCC] | Coding Sequence Variant |
| neuronal acetylcholine receptor subunit beta-4 isoform 2 precursor | NP_001243496.1:p.Ala198= | A (Ala) > A (Ala) | Synonymous Variant |
| CHRNB4 transcript variant 2 | NM_001256567.3:c.594T>A | A [GCT] > A [GCA] | Coding Sequence Variant |
| neuronal acetylcholine receptor subunit beta-4 isoform 2 precursor | NP_001243496.1:p.Ala198= | A (Ala) > A (Ala) | Synonymous Variant |
| CHRNB4 transcript variant X1 | XM_011521187.3:c.*76= | N/A | 3 Prime UTR Variant |
| CHRNB4 transcript variant X2 | XM_011521186.3:c.*76= | N/A | 3 Prime UTR Variant |
| CHRNB4 transcript variant X3 | XM_017021885.2:c.*76= | N/A | 3 Prime UTR Variant |
| CHRNB4 transcript variant X4 | XM_017021886.2:c.*76= | N/A | 3 Prime UTR Variant |
| CHRNB4 transcript variant X8 | XM_011521191.3:c.*76= | N/A | 3 Prime UTR Variant |
| CHRNB4 transcript variant X9 | XM_011521190.3:c.*76= | N/A | 3 Prime UTR Variant |
| CHRNB4 transcript variant X10 | XM_011521192.3:c.*76= | N/A | 3 Prime UTR Variant |
| CHRNB4 transcript variant X5 | XM_017021887.2:c. | N/A | Genic Downstream Transcript Variant |
| CHRNB4 transcript variant X6 | XM_017021888.2:c. | N/A | Genic Downstream Transcript Variant |
| CHRNB4 transcript variant X7 | XM_017021889.3:c. | N/A | Genic Downstream 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.
Allele: G (allele ID:
1279134
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV001713894.1 | not provided | Benign |
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 | A= | G | T |
|---|---|---|---|
| GRCh38.p14 chr 15 | NC_000015.10:g.78625057= | NC_000015.10:g.78625057A>G | NC_000015.10:g.78625057A>T |
| GRCh37.p13 chr 15 | NC_000015.9:g.78917399= | NC_000015.9:g.78917399A>G | NC_000015.9:g.78917399A>T |
| CHRNA3 RefSeqGene | NG_016143.1:g.1239= | NG_016143.1:g.1239T>C | NG_016143.1:g.1239T>A |
| CHRNB4 transcript variant 1 | NM_000750.5:c.*76= | NM_000750.5:c.*76T>C | NM_000750.5:c.*76T>A |
| CHRNB4 transcript variant 1 | NM_000750.4:c.*76= | NM_000750.4:c.*76T>C | NM_000750.4:c.*76T>A |
| CHRNB4 transcript variant 1 | NM_000750.3:c.*76= | NM_000750.3:c.*76T>C | NM_000750.3:c.*76T>A |
| CHRNB4 transcript variant X2 | XM_011521186.3:c.*76= | XM_011521186.3:c.*76T>C | XM_011521186.3:c.*76T>A |
| CHRNB4 transcript variant X1 | XM_011521186.2:c.*76= | XM_011521186.2:c.*76T>C | XM_011521186.2:c.*76T>A |
| CHRNB4 transcript variant X6 | XM_011521186.1:c.*76= | XM_011521186.1:c.*76T>C | XM_011521186.1:c.*76T>A |
| CHRNB4 transcript variant X1 | XM_011521187.3:c.*76= | XM_011521187.3:c.*76T>C | XM_011521187.3:c.*76T>A |
| CHRNB4 transcript variant X2 | XM_011521187.2:c.*76= | XM_011521187.2:c.*76T>C | XM_011521187.2:c.*76T>A |
| CHRNB4 transcript variant X7 | XM_011521187.1:c.*76= | XM_011521187.1:c.*76T>C | XM_011521187.1:c.*76T>A |
| CHRNB4 transcript variant X9 | XM_011521190.3:c.*76= | XM_011521190.3:c.*76T>C | XM_011521190.3:c.*76T>A |
| CHRNB4 transcript variant X9 | XM_011521190.2:c.*76= | XM_011521190.2:c.*76T>C | XM_011521190.2:c.*76T>A |
| CHRNB4 transcript variant X10 | XM_011521190.1:c.*76= | XM_011521190.1:c.*76T>C | XM_011521190.1:c.*76T>A |
| CHRNB4 transcript variant X8 | XM_011521191.3:c.*76= | XM_011521191.3:c.*76T>C | XM_011521191.3:c.*76T>A |
| CHRNB4 transcript variant X8 | XM_011521191.2:c.*76= | XM_011521191.2:c.*76T>C | XM_011521191.2:c.*76T>A |
| CHRNB4 transcript variant X11 | XM_011521191.1:c.*76= | XM_011521191.1:c.*76T>C | XM_011521191.1:c.*76T>A |
| CHRNB4 transcript variant X10 | XM_011521192.3:c.*76= | XM_011521192.3:c.*76T>C | XM_011521192.3:c.*76T>A |
| CHRNB4 transcript variant X10 | XM_011521192.2:c.*76= | XM_011521192.2:c.*76T>C | XM_011521192.2:c.*76T>A |
| CHRNB4 transcript variant X12 | XM_011521192.1:c.*76= | XM_011521192.1:c.*76T>C | XM_011521192.1:c.*76T>A |
| CHRNB4 transcript variant 2 | NM_001256567.3:c.594= | NM_001256567.3:c.594T>C | NM_001256567.3:c.594T>A |
| CHRNB4 transcript variant 2 | NM_001256567.2:c.594= | NM_001256567.2:c.594T>C | NM_001256567.2:c.594T>A |
| CHRNB4 transcript variant 2 | NM_001256567.1:c.594= | NM_001256567.1:c.594T>C | NM_001256567.1:c.594T>A |
| CHRNB4 transcript variant X4 | XM_017021886.2:c.*76= | XM_017021886.2:c.*76T>C | XM_017021886.2:c.*76T>A |
| CHRNB4 transcript variant X4 | XM_017021886.1:c.*76= | XM_017021886.1:c.*76T>C | XM_017021886.1:c.*76T>A |
| CHRNB4 transcript variant X3 | XM_017021885.2:c.*76= | XM_017021885.2:c.*76T>C | XM_017021885.2:c.*76T>A |
| CHRNB4 transcript variant X3 | XM_017021885.1:c.*76= | XM_017021885.1:c.*76T>C | XM_017021885.1:c.*76T>A |
| neuronal acetylcholine receptor subunit beta-4 isoform 2 precursor | NP_001243496.1:p.Ala198= | NP_001243496.1:p.Ala198= | NP_001243496.1:p.Ala198= |
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#.
160 SubSNP,
27 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | WIAF | ss1974 | Sep 19, 2000 (36) |
| 2 | YUSUKE | ss4970687 | Aug 28, 2002 (108) |
| 3 | BCM_SSAHASNP | ss10788513 | Jul 11, 2003 (116) |
| 4 | WI_SSAHASNP | ss12331751 | Jul 11, 2003 (116) |
| 5 | SC_SNP | ss15679142 | Feb 27, 2004 (120) |
| 6 | CSHL-HAPMAP | ss16688115 | Feb 27, 2004 (120) |
| 7 | ILLUMINA | ss65741068 | Oct 16, 2006 (127) |
| 8 | ILLUMINA | ss66555043 | Dec 01, 2006 (127) |
| 9 | ILLUMINA | ss67209539 | Dec 01, 2006 (127) |
| 10 | ILLUMINA | ss67602486 | Dec 01, 2006 (127) |
| 11 | ILLUMINA | ss70687785 | May 24, 2008 (130) |
| 12 | ILLUMINA | ss71252356 | May 18, 2007 (127) |
| 13 | ILLUMINA | ss75549744 | Dec 06, 2007 (129) |
| 14 | UUGC | ss76901681 | Dec 06, 2007 (129) |
| 15 | ILLUMINA | ss79103204 | Dec 15, 2007 (130) |
| 16 | KRIBB_YJKIM | ss83344951 | Dec 15, 2007 (130) |
| 17 | BCMHGSC_JDW | ss90221382 | Mar 24, 2008 (129) |
| 18 | HUMANGENOME_JCVI | ss96825874 | Feb 04, 2009 (130) |
| 19 | CNG | ss98339007 | Feb 04, 2009 (130) |
| 20 | SHGC | ss99307643 | Feb 04, 2009 (130) |
| 21 | BGI | ss103254328 | Dec 01, 2009 (131) |
| 22 | 1000GENOMES | ss108967012 | Jan 23, 2009 (130) |
| 23 | 1000GENOMES | ss114422877 | Jan 25, 2009 (130) |
| 24 | ILLUMINA-UK | ss118295127 | Feb 14, 2009 (130) |
| 25 | ILLUMINA | ss121861849 | Dec 01, 2009 (131) |
| 26 | ENSEMBL | ss136445072 | Dec 01, 2009 (131) |
| 27 | ENSEMBL | ss139823528 | Dec 01, 2009 (131) |
| 28 | ILLUMINA | ss153790688 | Dec 01, 2009 (131) |
| 29 | GMI | ss156763154 | Dec 01, 2009 (131) |
| 30 | ILLUMINA | ss159342872 | Dec 01, 2009 (131) |
| 31 | ILLUMINA | ss160480181 | Dec 01, 2009 (131) |
| 32 | COMPLETE_GENOMICS | ss168361192 | Jul 04, 2010 (132) |
| 33 | COMPLETE_GENOMICS | ss169970392 | Jul 04, 2010 (132) |
| 34 | ILLUMINA | ss170900800 | Jul 04, 2010 (132) |
| 35 | COMPLETE_GENOMICS | ss171364864 | Jul 04, 2010 (132) |
| 36 | ILLUMINA | ss173005050 | Jul 04, 2010 (132) |
| 37 | BUSHMAN | ss201066942 | Jul 04, 2010 (132) |
| 38 | BCM-HGSC-SUB | ss207320213 | Jul 04, 2010 (132) |
| 39 | 1000GENOMES | ss226987996 | Jul 14, 2010 (132) |
| 40 | 1000GENOMES | ss236845816 | Jul 15, 2010 (132) |
| 41 | 1000GENOMES | ss243220688 | Jul 15, 2010 (132) |
| 42 | BL | ss255132954 | May 09, 2011 (134) |
| 43 | GMI | ss282327845 | May 04, 2012 (137) |
| 44 | GMI | ss286987180 | Apr 25, 2013 (138) |
| 45 | PJP | ss291757394 | May 09, 2011 (134) |
| 46 | ILLUMINA | ss480355348 | May 04, 2012 (137) |
| 47 | ILLUMINA | ss480367319 | May 04, 2012 (137) |
| 48 | ILLUMINA | ss481136134 | Sep 08, 2015 (146) |
| 49 | ILLUMINA | ss484975260 | May 04, 2012 (137) |
| 50 | ILLUMINA | ss537013103 | Sep 08, 2015 (146) |
| 51 | TISHKOFF | ss564593575 | Apr 25, 2013 (138) |
| 52 | SSMP | ss660331142 | Apr 25, 2013 (138) |
| 53 | ILLUMINA | ss778473759 | Sep 08, 2015 (146) |
| 54 | ILLUMINA | ss782933929 | Sep 08, 2015 (146) |
| 55 | ILLUMINA | ss783896691 | Sep 08, 2015 (146) |
| 56 | ILLUMINA | ss825433722 | Jul 19, 2016 (147) |
| 57 | ILLUMINA | ss832189409 | Sep 08, 2015 (146) |
| 58 | ILLUMINA | ss832854840 | Jul 13, 2019 (153) |
| 59 | ILLUMINA | ss833929566 | Sep 08, 2015 (146) |
| 60 | EVA-GONL | ss991982176 | Aug 21, 2014 (142) |
| 61 | JMKIDD_LAB | ss1080267118 | Aug 21, 2014 (142) |
| 62 | 1000GENOMES | ss1354232027 | Aug 21, 2014 (142) |
| 63 | DDI | ss1427685843 | Apr 01, 2015 (144) |
| 64 | EVA_GENOME_DK | ss1577713278 | Apr 01, 2015 (144) |
| 65 | EVA_FINRISK | ss1584095538 | Apr 01, 2015 (144) |
| 66 | EVA_UK10K_ALSPAC | ss1633409961 | Apr 01, 2015 (144) |
| 67 | EVA_UK10K_TWINSUK | ss1676403994 | Apr 01, 2015 (144) |
| 68 | EVA_EXAC | ss1691948954 | Apr 01, 2015 (144) |
| 69 | EVA_DECODE | ss1696008363 | Apr 01, 2015 (144) |
| 70 | EVA_MGP | ss1711405818 | Apr 01, 2015 (144) |
| 71 | EVA_SVP | ss1713504269 | Apr 01, 2015 (144) |
| 72 | ILLUMINA | ss1752172503 | Sep 08, 2015 (146) |
| 73 | HAMMER_LAB | ss1808288249 | Sep 08, 2015 (146) |
| 74 | WEILL_CORNELL_DGM | ss1935385340 | Feb 12, 2016 (147) |
| 75 | GENOMED | ss1968152705 | Jul 19, 2016 (147) |
| 76 | JJLAB | ss2028474229 | Sep 14, 2016 (149) |
| 77 | ILLUMINA | ss2095060257 | Dec 20, 2016 (150) |
| 78 | USC_VALOUEV | ss2156882797 | Dec 20, 2016 (150) |
| 79 | HUMAN_LONGEVITY | ss2208363591 | Dec 20, 2016 (150) |
| 80 | SYSTEMSBIOZJU | ss2628732292 | Nov 08, 2017 (151) |
| 81 | ILLUMINA | ss2633254010 | Nov 08, 2017 (151) |
| 82 | GRF | ss2701363446 | Nov 08, 2017 (151) |
| 83 | GNOMAD | ss2741435853 | Nov 08, 2017 (151) |
| 84 | GNOMAD | ss2749362195 | Nov 08, 2017 (151) |
| 85 | GNOMAD | ss2937112918 | Nov 08, 2017 (151) |
| 86 | AFFY | ss2985684262 | Nov 08, 2017 (151) |
| 87 | SWEGEN | ss3013594461 | Nov 08, 2017 (151) |
| 88 | EVA_SAMSUNG_MC | ss3023069227 | Nov 08, 2017 (151) |
| 89 | BIOINF_KMB_FNS_UNIBA | ss3028061399 | Nov 08, 2017 (151) |
| 90 | CSHL | ss3351199760 | Nov 08, 2017 (151) |
| 91 | ILLUMINA | ss3627406808 | Oct 12, 2018 (152) |
| 92 | ILLUMINA | ss3631245106 | Oct 12, 2018 (152) |
| 93 | ILLUMINA | ss3633103692 | Oct 12, 2018 (152) |
| 94 | ILLUMINA | ss3633808622 | Oct 12, 2018 (152) |
| 95 | ILLUMINA | ss3634616142 | Oct 12, 2018 (152) |
| 96 | ILLUMINA | ss3635497391 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3636306587 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3637248703 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3638097048 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3639061041 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3639536018 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3640323463 | Oct 12, 2018 (152) |
| 103 | ILLUMINA | ss3641063249 | Oct 12, 2018 (152) |
| 104 | ILLUMINA | ss3641358658 | Oct 12, 2018 (152) |
| 105 | ILLUMINA | ss3643080490 | Oct 12, 2018 (152) |
| 106 | OMUKHERJEE_ADBS | ss3646478162 | Oct 12, 2018 (152) |
| 107 | URBANLAB | ss3650397630 | Oct 12, 2018 (152) |
| 108 | ILLUMINA | ss3652053718 | Oct 12, 2018 (152) |
| 109 | EGCUT_WGS | ss3680735801 | Jul 13, 2019 (153) |
| 110 | EVA_DECODE | ss3698270266 | Jul 13, 2019 (153) |
| 111 | ACPOP | ss3741087781 | Jul 13, 2019 (153) |
| 112 | ILLUMINA | ss3744916664 | Jul 13, 2019 (153) |
| 113 | EVA | ss3753326220 | Jul 13, 2019 (153) |
| 114 | ILLUMINA | ss3772415212 | Jul 13, 2019 (153) |
| 115 | PACBIO | ss3787901447 | Jul 13, 2019 (153) |
| 116 | PACBIO | ss3792904442 | Jul 13, 2019 (153) |
| 117 | PACBIO | ss3797789023 | Jul 13, 2019 (153) |
| 118 | KHV_HUMAN_GENOMES | ss3818630200 | Jul 13, 2019 (153) |
| 119 | EVA | ss3825530043 | Apr 27, 2020 (154) |
| 120 | EVA | ss3825544970 | Apr 27, 2020 (154) |
| 121 | EVA | ss3825864214 | Apr 27, 2020 (154) |
| 122 | EVA | ss3834329428 | Apr 27, 2020 (154) |
| 123 | EVA | ss3840764366 | Apr 27, 2020 (154) |
| 124 | EVA | ss3846254357 | Apr 27, 2020 (154) |
| 125 | HGDP | ss3847529771 | Apr 27, 2020 (154) |
| 126 | SGDP_PRJ | ss3883314732 | Apr 27, 2020 (154) |
| 127 | KRGDB | ss3932544129 | Apr 27, 2020 (154) |
| 128 | KOGIC | ss3976541946 | Apr 27, 2020 (154) |
| 129 | FSA-LAB | ss3984078472 | Apr 27, 2021 (155) |
| 130 | EVA | ss3984704418 | Apr 27, 2021 (155) |
| 131 | EVA | ss3985728224 | Apr 27, 2021 (155) |
| 132 | EVA | ss3986068119 | Apr 27, 2021 (155) |
| 133 | EVA | ss3986658304 | Apr 27, 2021 (155) |
| 134 | TOPMED | ss4998162104 | Apr 27, 2021 (155) |
| 135 | TOMMO_GENOMICS | ss5217095898 | Apr 27, 2021 (155) |
| 136 | EVA | ss5236926110 | Apr 27, 2021 (155) |
| 137 | EVA | ss5237231101 | Apr 27, 2021 (155) |
| 138 | EVA | ss5237664557 | Oct 16, 2022 (156) |
| 139 | 1000G_HIGH_COVERAGE | ss5299114559 | Oct 16, 2022 (156) |
| 140 | TRAN_CS_UWATERLOO | ss5314441866 | Oct 16, 2022 (156) |
| 141 | EVA | ss5315798778 | Oct 16, 2022 (156) |
| 142 | EVA | ss5420471381 | Oct 16, 2022 (156) |
| 143 | HUGCELL_USP | ss5492772156 | Oct 16, 2022 (156) |
| 144 | 1000G_HIGH_COVERAGE | ss5600854240 | Oct 16, 2022 (156) |
| 145 | EVA | ss5623965167 | Oct 16, 2022 (156) |
| 146 | EVA | ss5624055502 | Oct 16, 2022 (156) |
| 147 | SANFORD_IMAGENETICS | ss5657887847 | Oct 16, 2022 (156) |
| 148 | TOMMO_GENOMICS | ss5771172491 | Oct 16, 2022 (156) |
| 149 | EVA | ss5799943171 | Oct 16, 2022 (156) |
| 150 | EVA | ss5800068452 | Oct 16, 2022 (156) |
| 151 | EVA | ss5800195313 | Oct 16, 2022 (156) |
| 152 | YY_MCH | ss5815502485 | Oct 16, 2022 (156) |
| 153 | EVA | ss5828461894 | Oct 16, 2022 (156) |
| 154 | EVA | ss5848408338 | Oct 16, 2022 (156) |
| 155 | EVA | ss5851370662 | Oct 16, 2022 (156) |
| 156 | EVA | ss5876652600 | Oct 16, 2022 (156) |
| 157 | EVA | ss5936561110 | Oct 16, 2022 (156) |
| 158 | EVA | ss5949305990 | Oct 16, 2022 (156) |
| 159 | EVA | ss5980883408 | Oct 16, 2022 (156) |
| 160 | EVA | ss5981291143 | Oct 16, 2022 (156) |
| 161 | 1000Genomes | NC_000015.9 - 78917399 | Oct 12, 2018 (152) |
| 162 | 1000Genomes_30x | NC_000015.10 - 78625057 | Oct 16, 2022 (156) |
| 163 | The Avon Longitudinal Study of Parents and Children | NC_000015.9 - 78917399 | Oct 12, 2018 (152) |
| 164 | Genetic variation in the Estonian population | NC_000015.9 - 78917399 | Oct 12, 2018 (152) |
| 165 | ExAC | NC_000015.9 - 78917399 | Oct 12, 2018 (152) |
| 166 | FINRISK | NC_000015.9 - 78917399 | Apr 27, 2020 (154) |
| 167 | The Danish reference pan genome | NC_000015.9 - 78917399 | Apr 27, 2020 (154) |
| 168 | gnomAD - Genomes | NC_000015.10 - 78625057 | Apr 27, 2021 (155) |
| 169 | gnomAD - Exomes | NC_000015.9 - 78917399 | Jul 13, 2019 (153) |
| 170 | Genome of the Netherlands Release 5 | NC_000015.9 - 78917399 | Apr 27, 2020 (154) |
| 171 | HGDP-CEPH-db Supplement 1 | NC_000015.8 - 76704454 | Apr 27, 2020 (154) |
| 172 | HapMap | NC_000015.10 - 78625057 | Apr 27, 2020 (154) |
| 173 | KOREAN population from KRGDB | NC_000015.9 - 78917399 | Apr 27, 2020 (154) |
| 174 | Korean Genome Project | NC_000015.10 - 78625057 | Apr 27, 2020 (154) |
| 175 | Medical Genome Project healthy controls from Spanish population | NC_000015.9 - 78917399 | Apr 27, 2020 (154) |
| 176 | Northern Sweden | NC_000015.9 - 78917399 | Jul 13, 2019 (153) |
| 177 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000015.9 - 78917399 | Apr 27, 2021 (155) |
| 178 | CNV burdens in cranial meningiomas | NC_000015.9 - 78917399 | Apr 27, 2021 (155) |
| 179 | Qatari | NC_000015.9 - 78917399 | Apr 27, 2020 (154) |
| 180 | SGDP_PRJ | NC_000015.9 - 78917399 | Apr 27, 2020 (154) |
| 181 | Siberian | NC_000015.9 - 78917399 | Apr 27, 2020 (154) |
| 182 | 8.3KJPN | NC_000015.9 - 78917399 | Apr 27, 2021 (155) |
| 183 | 14KJPN | NC_000015.10 - 78625057 | Oct 16, 2022 (156) |
| 184 | TopMed | NC_000015.10 - 78625057 | Apr 27, 2021 (155) |
| 185 | UK 10K study - Twins | NC_000015.9 - 78917399 | Oct 12, 2018 (152) |
| 186 | A Vietnamese Genetic Variation Database | NC_000015.9 - 78917399 | Jul 13, 2019 (153) |
| 187 | ALFA | NC_000015.10 - 78625057 | Apr 27, 2021 (155) |
| 188 | ClinVar | RCV001713894.1 | 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) |
|---|---|
| rs3784332 | Oct 08, 2002 (108) |
| rs58211758 | May 24, 2008 (130) |
| rs386550084 | Aug 21, 2014 (142) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 207663, ss90221382, ss108967012, ss114422877, ss118295127, ss160480181, ss168361192, ss169970392, ss171364864, ss201066942, ss207320213, ss255132954, ss282327845, ss286987180, ss291757394, ss480355348, ss825433722, ss1696008363, ss1713504269, ss3639061041, ss3639536018, ss3643080490, ss3847529771 | NC_000015.8:76704453:A:G | NC_000015.10:78625056:A:G | (self) |
| 67331386, 37390306, 26474049, 2331827, 91999, 3933859, 10703035, 16684580, 39721523, 521578, 14372646, 954151, 253943, 17427270, 35331712, 9399151, 75065205, 37390306, 8312249, ss226987996, ss236845816, ss243220688, ss480367319, ss481136134, ss484975260, ss537013103, ss564593575, ss660331142, ss778473759, ss782933929, ss783896691, ss832189409, ss832854840, ss833929566, ss991982176, ss1080267118, ss1354232027, ss1427685843, ss1577713278, ss1584095538, ss1633409961, ss1676403994, ss1691948954, ss1711405818, ss1752172503, ss1808288249, ss1935385340, ss1968152705, ss2028474229, ss2095060257, ss2156882797, ss2628732292, ss2633254010, ss2701363446, ss2741435853, ss2749362195, ss2937112918, ss2985684262, ss3013594461, ss3023069227, ss3351199760, ss3627406808, ss3631245106, ss3633103692, ss3633808622, ss3634616142, ss3635497391, ss3636306587, ss3637248703, ss3638097048, ss3640323463, ss3641063249, ss3641358658, ss3646478162, ss3652053718, ss3680735801, ss3741087781, ss3744916664, ss3753326220, ss3772415212, ss3787901447, ss3792904442, ss3797789023, ss3825530043, ss3825544970, ss3825864214, ss3834329428, ss3840764366, ss3883314732, ss3932544129, ss3984078472, ss3984704418, ss3985728224, ss3986068119, ss3986658304, ss5217095898, ss5315798778, ss5420471381, ss5623965167, ss5624055502, ss5657887847, ss5799943171, ss5800068452, ss5800195313, ss5828461894, ss5848408338, ss5936561110, ss5949305990, ss5980883408, ss5981291143 | NC_000015.9:78917398:A:G | NC_000015.10:78625056:A:G | (self) |
| RCV001713894.1, 88380175, 474716274, 1299248, 32919947, 105009595, 213707764, 6296357247, ss2208363591, ss3028061399, ss3650397630, ss3698270266, ss3818630200, ss3846254357, ss3976541946, ss4998162104, ss5236926110, ss5237231101, ss5237664557, ss5299114559, ss5314441866, ss5492772156, ss5600854240, ss5771172491, ss5815502485, ss5851370662, ss5876652600 | NC_000015.10:78625056:A:G | NC_000015.10:78625056:A:G | (self) |
| ss10788513, ss12331751 | NT_010194.15:49703798:A:G | NC_000015.10:78625056:A:G | (self) |
| ss15679142, ss16688115 | NT_010194.16:49707718:A:G | NC_000015.10:78625056:A:G | (self) |
| ss1974, ss4970687, ss65741068, ss66555043, ss67209539, ss67602486, ss70687785, ss71252356, ss75549744, ss76901681, ss79103204, ss83344951, ss96825874, ss98339007, ss99307643, ss103254328, ss121861849, ss136445072, ss139823528, ss153790688, ss156763154, ss159342872, ss170900800, ss173005050 | NT_010194.17:49707955:A:G | NC_000015.10:78625056:A:G | (self) |
| 6296357247 | NC_000015.10:78625056:A:T | NC_000015.10:78625056:A:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
41
citations for rs1948
| 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 |
| 18163978 | The CHRNA5/A3/B4 gene cluster variability as an important determinant of early alcohol and tobacco initiation in young adults. | Schlaepfer IR et al. | 2008 | Biological psychiatry |
| 18165968 | Identification of pharmacogenetic markers in smoking cessation therapy. | Heitjan DF et al. | 2008 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 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 |
| 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 |
| 19029397 | Nicotinic receptor gene variants influence susceptibility to heavy smoking. | Stevens VL et al. | 2008 | Cancer epidemiology, biomarkers & prevention |
| 19156168 | Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. | Need AC et al. | 2009 | European journal of human genetics |
| 19492010 | The genetic components of alcohol and nicotine co-addiction: from genes to behavior. | Schlaepfer IR et al. | 2008 | Current drug abuse reviews |
| 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 |
| 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 |
| 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 |
| 21858091 | In vitro and ex vivo analysis of CHRNA3 and CHRNA5 haplotype expression. | Doyle GA et al. | 2011 | PloS one |
| 21949713 | Genetics of sputum gene expression in chronic obstructive pulmonary disease. | Qiu W et al. | 2011 | PloS one |
| 22042234 | Externalizing behaviors are associated with SNPs in the CHRNA5/CHRNA3/CHRNB4 gene cluster. | Stephens SH et al. | 2012 | Behavior genetics |
| 22241830 | Analysis of detailed phenotype profiles reveals CHRNA5-CHRNA3-CHRNB4 gene cluster association with several nicotine dependence traits. | Broms U et al. | 2012 | Nicotine & tobacco research |
| 22291610 | A flexible Bayesian model for studying gene-environment interaction. | Yu K et al. | 2012 | PLoS genetics |
| 22382757 | The CHRNA5/A3/B4 gene cluster and tobacco, alcohol, cannabis, inhalants and other substance use initiation: replication and new findings using mixture analyses. | Lubke GH et al. | 2012 | Behavior genetics |
| 22438940 | Variants located upstream of CHRNB4 on chromosome 15q25.1 are associated with age at onset of daily smoking and habitual smoking. | Kapoor M et al. | 2012 | PloS one |
| 22945651 | Epigenetic screen identifies genotype-specific promoter DNA methylation and oncogenic potential of CHRNB4. | Scherf DB et al. | 2013 | Oncogene |
| 23024249 | Development of novel pharmacotherapeutics for tobacco dependence: progress and future directions. | Harmey D et al. | 2012 | Nicotine & tobacco research |
| 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 |
| 23143843 | Molecular mechanisms underlying behaviors related to nicotine addiction. | Picciotto MR et al. | 2013 | Cold Spring Harbor perspectives in medicine |
| 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 |
| 23875064 | Scrutiny of the CHRNA5-CHRNA3-CHRNB4 smoking behavior locus reveals a novel association with alcohol use in a Finnish population based study. | Hällfors J et al. | 2013 | International journal of molecular epidemiology and genetics |
| 24186853 | Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking. | Stephens SH et al. | 2013 | Genetic epidemiology |
| 25036316 | Joint association of nicotinic acetylcholine receptor variants with abdominal obesity in American Indians: the Strong Heart Family Study. | Zhu Y et al. | 2014 | PloS one |
| 25233467 | Role of nicotine dependence on the relationship between variants in the nicotinic receptor genes and risk of lung adenocarcinoma. | Tseng TS et al. | 2014 | PloS one |
| 25941207 | An Adolescent Substance Prevention Model Blocks the Effect of CHRNA5 Genotype on Smoking During High School. | Vandenbergh DJ et al. | 2016 | Nicotine & tobacco research |
| 26044620 | Gene network analysis shows immune-signaling and ERK1/2 as novel genetic markers for multiple addiction phenotypes: alcohol, smoking and opioid addiction. | Reyes-Gibby CC et al. | 2015 | BMC systems biology |
| 26351737 | Nicotinic acetylcholine receptors: upregulation, age-related effects and associations with drug use. | Melroy-Greif WE et al. | 2016 | Genes, brain, and behavior |
| 27166759 | Converging findings from linkage and association analyses on susceptibility genes for smoking and other addictions. | Yang J et al. | 2016 | Molecular psychiatry |
| 27758088 | The CHRNA5/CHRNA3/CHRNB4 Nicotinic Receptor Regulome: Genomic Architecture, Regulatory Variants, and Clinical Associations. | Barrie ES et al. | 2017 | Human mutation |
| 28900078 | [Polymorphic Variants of Glutamate Receptor (GRIK5, GRIN2B) and Serotonin Receptor (HTR2A) Genes Are Associated with Chronic Obstructive Pulmonary Disease]. | Korytina GF et al. | 2017 | Molekuliarnaia biologiia |
| 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 |
| 29666375 | Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population. | Liu Q et al. | 2018 | Translational psychiatry |
| 30453884 | Combined genetic influence of the nicotinic receptor gene cluster CHRNA5/A3/B4 on nicotine dependence. | Lee SH et al. | 2018 | BMC genomics |
| 32580138 | Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population. | Shi XY et al. | 2020 | EBioMedicine |
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.