rs578776
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs578776(C;T) |
| Make rs578776(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 15 |
| Position | 78596058 |
| Gene | CHRNA3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs578776 |
| dbSNP (classic) | rs578776 |
| ClinGen | rs578776 |
| ebi | rs578776 |
| HLI | rs578776 |
| Exac | rs578776 |
| Gnomad | rs578776 |
| Varsome | rs578776 |
| LitVar | rs578776 |
| Map | rs578776 |
| PheGenI | rs578776 |
| Biobank | rs578776 |
| 1000 genomes | rs578776 |
| hgdp | rs578776 |
| ensembl | rs578776 |
| geneview | rs578776 |
| scholar | rs578776 |
| rs578776 | |
| pharmgkb | rs578776 |
| gwascentral | rs578776 |
| openSNP | rs578776 |
| 23andMe | rs578776 |
| SNPshot | rs578776 |
| SNPdbe | rs578776 |
| MSV3d | rs578776 |
| GWAS Ctlg | rs578776 |
| GMAF | 0.4564 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19259974
] identifies a region associated with nicotine dependence in this particular study (1,050 dependents, 879 non-dependent controls, all of European descent), noted as distinct from the loci which rs16969968 defines
[PMID 19706762] The CHRNA5-CHRNA3-CHRNB4 Nicotinic Receptor Subunit Gene Cluster Affects Risk for Nicotine Dependence in African-Americans and in European-Americans
[PMID 20587604] Fine Mapping of Chromosome 15q25.1 Lung Cancer Susceptibility in African Americans
[PMID 20700436] Multiple Independent Loci at Chromosome 15q25.1 Affect Smoking Quantity: a Meta-Analysis and Comparison with Lung Cancer and COPD
[PMID 20840187] Peer smoking and the nicotinic receptor genes: an examination of genetic and environmental risks for nicotine dependence
[PMID 22046326] 'Smoking Genes': A Genetic Association Study
[PMID 17135278] Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs.
[PMID 18519524] Variants in nicotinic receptors and risk for nicotine dependence.
[PMID 18565990] Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence.
[PMID 18571741] Genetic variability in nicotinic acetylcholine receptors and nicotine addiction: converging evidence from human and animal research.
[PMID 18780872] Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer.
[PMID 18783506] Association of a single nucleotide polymorphism in neuronal acetylcholine receptor subunit alpha 5 (CHRNA5) with smoking status and with 'pleasurable buzz' during early experimentation with smoking.
[PMID 19029397] Nicotinic receptor gene variants influence susceptibility to heavy smoking.
[PMID 19184766] A testable prognostic model of nicotine dependence.
[PMID 19247474] Genome-wide and candidate gene association study of cigarette smoking behaviors.
[PMID 19436041] Human neuronal acetylcholine receptor A5-A3-B4 haplotypes are associated with multiple nicotine dependence phenotypes.
[PMID 19443489] Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5.
[PMID 20485328] Variation in nicotinic acetylcholine receptor genes is associated with multiple substance dependence phenotypes.
[PMID 20808433] Associations of variants in CHRNA5/A3/B4 gene cluster with smoking behaviors in a Korean population.
[PMID 20886544] Risk gene variants for nicotine dependence in the CHRNA5-CHRNA3-CHRNB4 cluster are associated with cognitive performance.
[PMID 21385908] Association of the nicotine metabolite ratio and CHRNA5/CHRNA3 polymorphisms with smoking rate among treatment-seeking smokers.
[PMID 21810735] Single nucleotide polymorphisms in CHRNA5 rs16969968, CHRNA3 rs578776, and LOC123688 rs8034191 are associated with heaviness of smoking in women in Northeastern Ontario, Canada.
[PMID 21862624] Genetic polymorphisms in 15q25 and 19q13 loci, cotinine levels, and risk of lung cancer in EPIC.
[PMID 22241830] Analysis of detailed phenotype profiles reveals CHRNA5-CHRNA3-CHRNB4 gene cluster association with several nicotine dependence traits.
[PMID 23397474] Polymorphisms of CHRNA5-CHRNA3-CHRNB4 Gene Cluster and NSCLC Risk in Chinese Population
[PMID 22884254] Association of nicotine dependence susceptibility gene, CHRNA5, with Parkinson's disease age at onset: gene and smoking status interaction.
[PMID 23689675] Genetic risk for nicotine dependence in the cholinergic system and activation of the brain reward system in healthy adolescents.
[PMID 23692359] CHRNA5-A3-B4 genetic variants alter nicotine intake and interact with tobacco use to influence body weight in Alaska Native tobacco users.
[PMID 25139936] Association of Cancer Susceptibility Variants with Risk of Multiple Primary Cancers: the Population Architecture using Genomics and Epidemiology Study
[PMID 25652844] Nicotine dependence in an isolated population of Kashubians from North Poland: a population survey
[PMID 25632390] Association between genetic variants on chromosome 15q25 locus and several nicotine dependence traits in Polish population: a case-control study
| ClinVar | |
|---|---|
| Risk | rs578776(T;T) |
| Alt | rs578776(T;T) |
| Reference | Rs578776(C;C) |
| Significance | Drug-response |
| Disease | nicotine response - Toxicity/ADR |
| Variation | info |
| Gene | CHRNA3 |
| CLNDBN | nicotine response - Toxicity/ADR, Metabolism/PK |
| Reversed | 1 |
| HGVS | NC_000015.9:g.78888400G>A |
| CLNSRC | |
| CLNACC | RCV000417128.1, |
