rs1948
| Orientation | minus |
| Stabilized | minus |
| Make rs1948(C;C) |
| Make rs1948(C;T) |
| Make rs1948(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 15 |
| Position | 78625057 |
| Gene | CHRNB4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1948 |
| dbSNP (classic) | rs1948 |
| ClinGen | rs1948 |
| ebi | rs1948 |
| HLI | rs1948 |
| Exac | rs1948 |
| Gnomad | rs1948 |
| Varsome | rs1948 |
| LitVar | rs1948 |
| Map | rs1948 |
| PheGenI | rs1948 |
| Biobank | rs1948 |
| 1000 genomes | rs1948 |
| hgdp | rs1948 |
| ensembl | rs1948 |
| geneview | rs1948 |
| scholar | rs1948 |
| rs1948 | |
| pharmgkb | rs1948 |
| gwascentral | rs1948 |
| openSNP | rs1948 |
| 23andMe | rs1948 |
| SNPshot | rs1948 |
| SNPdbe | rs1948 |
| MSV3d | rs1948 |
| GWAS Ctlg | rs1948 |
| GMAF | 0.3177 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
The (C;C) genotype (as published) of rs1948 was calculated to represent a hazard ratio of 1.29 (CI: 1.01-1.63) for initiation of tobacco and alcohol use at an earlier age than average. A linked SNP also in the A5A3B4 gene, rs8023462, showed similiar association. [PMID 18163978
]
[PMID 17373692] No evidence for association between 19 cholinergic genes and bipolar disorder.
[PMID 18165968] Identification of pharmacogenetic markers in smoking cessation therapy.
[PMID 18571741] Genetic variability in nicotinic acetylcholine receptors and nicotine addiction: converging evidence from human and animal research.
[PMID 18957677] The CHRNA5-A3 region on chromosome 15q24-25.1 is a risk factor both for nicotine dependence and for lung cancer.
[PMID 19029397] Nicotinic receptor gene variants influence susceptibility to heavy smoking.
[PMID 19492010] The genetic components of alcohol and nicotine co-addiction: from genes to behavior.
[PMID 22241830] Analysis of detailed phenotype profiles reveals CHRNA5-CHRNA3-CHRNB4 gene cluster association with several nicotine dependence traits.
[PMID 23872218] Functional characterization of SNPs in CHRNA3/B4 intergenic region associated with drug behaviors
[PMID 22945651] Epigenetic screen identifies genotype-specific promoter DNA methylation and oncogenic potential of CHRNB4.
[PMID 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.
[PMID 30453884] Combined genetic influence of the nicotinic receptor gene cluster CHRNA5/A3/B4 on nicotine dependence.
[PMID 32580138] Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population.
