rs1044396
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2 | Increased risk of Nicotine dependence among males |
| Make rs1044396(C;T) |
| Make rs1044396(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 20 |
| Position | 63349782 |
| Gene | CHRNA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1044396 |
| dbSNP (classic) | rs1044396 |
| ClinGen | rs1044396 |
| ebi | rs1044396 |
| HLI | rs1044396 |
| Exac | rs1044396 |
| Gnomad | rs1044396 |
| Varsome | rs1044396 |
| LitVar | rs1044396 |
| Map | rs1044396 |
| PheGenI | rs1044396 |
| Biobank | rs1044396 |
| 1000 genomes | rs1044396 |
| hgdp | rs1044396 |
| ensembl | rs1044396 |
| geneview | rs1044396 |
| scholar | rs1044396 |
| rs1044396 | |
| pharmgkb | rs1044396 |
| gwascentral | rs1044396 |
| openSNP | rs1044396 |
| 23andMe | rs1044396 |
| SNPshot | rs1044396 |
| SNPdbe | rs1044396 |
| MSV3d | rs1044396 |
| GWAS Ctlg | rs1044396 |
| GMAF | 0.3609 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 15154117
] associated with vulnerability to nicotine addiction in men.
g2b2mh blog rs1044396 mediates effects of nicotine self-medication via parietal cortex. subjects with the (T;T) genotype showed robust brain activity in the parietal cortex while subjects with the (C;C) genotype showed very little change in activity.
| OMIM | 118504 |
| Desc | CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4 |
| Variant | 0005 |
| Related | also |
[PMID 19482438] Association of genes coding for the alpha-4, alpha-5, beta-2 and beta-3 subunits of nicotinic receptors with cigarette smoking and nicotine dependence
[PMID 22008229] Association of CHRNA4 polymorphism with depression and loneliness in elderly males
[PMID 17135278] Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs.
[PMID 17503330] A generalized combinatorial approach for detecting gene-by-gene and gene-by-environment interactions with application to nicotine dependence.
[PMID 17613539] Association of attentional network function with exon 5 variations of the CHRNA4 gene.
[PMID 17948872] Association of dopamine, serotonin, and nicotinic gene polymorphisms with methylphenidate response in ADHD.
[PMID 18534558] Gene-gene interactions among CHRNA4, CHRNB2, BDNF, and NTRK2 in nicotine dependence.
[PMID 18571741] Genetic variability in nicotinic acetylcholine receptors and nicotine addiction: converging evidence from human and animal research.
[PMID 18618000] A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction.
[PMID 19211801] Synergistic effects of genetic variation in nicotinic and muscarinic receptors on visual attention but not working memory.
[PMID 19238175] New insights into the genetics of addiction.
[PMID 19259974] Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.
[PMID 19429020] Individual variation in a cholinergic receptor gene modulates attention.
[PMID 20493238] Genetic variation of CHRNA4 does not modulate attention in Parkinson's disease.
[PMID 21130611] Evidence for the modality independence of the genetic epistasis between the dopaminergic and cholinergic system on working memory capacity.
[PMID 22180580] Association Between Nicotinic Acetylcholine Receptor Single Nucleotide Polymorphisms and Smoking Cessation.
[PMID 22373960] A cognitive phenotype for a polymorphism in the nicotinic receptor gene CHRNA4.
[PMID 22722381] The role of the CHRNA4 gene in Internet addiction: a case-control study.
[PMID 22760121] Interaction of the cholinergic system and the hypothalamic-pituitary-adrenal axis as a risk factor for depression: evidence from a genetic association study.
[PMID 22947540] The dopamine D2 receptor gene DRD2 and the nicotinic acetylcholine receptor gene CHRNA4 interact on striatal gray matter volume: evidence from a genetic imaging study.
[PMID 23350800] Nominal association with CHRNA4 variants and nicotine dependence.
[PMID 25647695] Modulation of nicotine effects on selective attention by DRD2 and CHRNA4 gene polymorphisms
| ClinVar | |
|---|---|
| Risk | rs1044396(G;G) rs1044396(T;T) |
| Alt | rs1044396(G;G) rs1044396(T;T) |
| Reference | Rs1044396(C;C) |
| Significance | Other |
| Disease | Nicotine addiction not specified |
| Variation | info |
| Gene | CHRNA4 |
| CLNDBN | Nicotine addiction, protection against not specified |
| Reversed | 1 |
| HGVS | NC_000020.10:g.61981134G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019053.2, RCV000079313.9, |
