rs2472553
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs2472553(C;C) |
| Make rs2472553(C;T) |
| Make rs2472553(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 8 |
| Position | 27470994 |
| Gene | CHRNA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2472553 |
| dbSNP (classic) | rs2472553 |
| ClinGen | rs2472553 |
| ebi | rs2472553 |
| HLI | rs2472553 |
| Exac | rs2472553 |
| Gnomad | rs2472553 |
| Varsome | rs2472553 |
| LitVar | rs2472553 |
| Map | rs2472553 |
| PheGenI | rs2472553 |
| Biobank | rs2472553 |
| 1000 genomes | rs2472553 |
| hgdp | rs2472553 |
| ensembl | rs2472553 |
| geneview | rs2472553 |
| scholar | rs2472553 |
| rs2472553 | |
| pharmgkb | rs2472553 |
| gwascentral | rs2472553 |
| openSNP | rs2472553 |
| 23andMe | rs2472553 |
| SNPshot | rs2472553 |
| SNPdbe | rs2472553 |
| MSV3d | rs2472553 |
| GWAS Ctlg | rs2472553 |
| GMAF | 0.2521 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 24467848
] A signal peptide missense mutation associated with nicotine dependence alters α2*-nicotinic acetylcholine receptor function
[PMID 19307444] Examination of the nicotine dependence (NICSNP) consortium findings in the Iowa adoption studies population.
[PMID 24253422] Significant associations of CHRNA2 and CHRNA6 with nicotine dependence in European American and African American populations
| ClinVar | |
|---|---|
| Risk | rs2472553(T;T) |
| Alt | rs2472553(T;T) |
| Reference | rs2472553(C;C) |
| Significance | Other |
| Disease | not specified Epilepsy |
| Variation | info |
| Gene | CHRNA2 |
| CLNDBN | not specified Epilepsy, nocturnal, frontal lobe type |
| Reversed | 1 |
| HGVS | NC_000008.10:g.27328511G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000116713.4, RCV000295942.1, |
