rs1801272
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | Reduced CYP2A6 metabolism; impaired nicotine metabolism? |
| (A;T) | 1 | Reduced CYP2A6 metabolism; impaired nicotine metabolism? |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 40848628 |
| Gene | CYP2A6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801272 |
| dbSNP (classic) | rs1801272 |
| ClinGen | rs1801272 |
| ebi | rs1801272 |
| HLI | rs1801272 |
| Exac | rs1801272 |
| Gnomad | rs1801272 |
| Varsome | rs1801272 |
| LitVar | rs1801272 |
| Map | rs1801272 |
| PheGenI | rs1801272 |
| Biobank | rs1801272 |
| 1000 genomes | rs1801272 |
| hgdp | rs1801272 |
| ensembl | rs1801272 |
| geneview | rs1801272 |
| scholar | rs1801272 |
| rs1801272 | |
| pharmgkb | rs1801272 |
| gwascentral | rs1801272 |
| openSNP | rs1801272 |
| 23andMe | rs1801272 |
| SNPshot | rs1801272 |
| SNPdbe | rs1801272 |
| MSV3d | rs1801272 |
| GWAS Ctlg | rs1801272 |
| GMAF | 0.01286 |
| Max Magnitude | 2 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
minor form is a slow metaboliser according to pharmgkb
[PMID 21685187
] Genome-wide association study of smoking behaviours in patients with COPD
[PMID 22046326] 'Smoking Genes': A Genetic Association Study
| ClinVar | |
|---|---|
| Risk | Rs1801272(A;A) |
| Alt | Rs1801272(A;A) |
| Reference | Rs1801272(T;T) |
| Significance | Drug-response |
| Disease | Warfarin response Nicotine |
| Variation | info |
| Gene | CYP2A6 |
| CLNDBN | Warfarin response Nicotine, poor metabolism of |
| Reversed | 1 |
| HGVS | NC_000019.9:g.41354533A>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018482.29, RCV000018483.28, |
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 18941913] Coffee intake, variants in genes involved in caffeine metabolism, and the risk of epithelial ovarian cancer.
[PMID 19479063] Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression.
[PMID 21245293] Correlated genotypes in friendship networks.
| GWAS snp | |
|---|---|
| PMID | [PMID 23049750]
|
| Trait | Smoking behavior |
| Title | Haplotypes with copy number and single nucleotide polymorphisms in CYP2A6 locus are associated with smoking quantity in a Japanese population. |
| Risk Allele | T |
| P-val | 5E-6 |
| Odds Ratio | 9.40 [5.48-13.32] unit decrease |
[PMID 23130019] Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations.
[PMID 33437219] Influence of CYP4F2, ApoE, and CYP2A6 gene polymorphisms on the variability of Warfarin dosage requirements and susceptibility to cardiovascular disease in Jordan.
