{{Rsnum
|rsid=1801272
|Gene=CYP2A6
|Chromosome=19
|position=40848628
|Orientation=minus
|ReferenceAllele=T
|MissenseAllele=A
|GMAF=0.01286
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=CYP2A6
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;T)
| geno3=(T;T)
| CEU | 0.0 | 9.2 | 90.8
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 4.5 | 95.5
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}
minor form is a slow metaboliser according to pharmgkb

{{PharmGKB
|RSID=rs1801272
|Name_s=CYP2A6:50707A>T
|Gene_s=CYP2A6
|Feature=Exon/NonSyn
|Evidence=Web Resource:http://www.pharmgkb.org/search/annotatedGene/cyp2a6/haplotype.jsp; Web Resource:http://www.pharmgkb.org/search/annotatedGene/cyp2a6/variant.jsp#ImportantVariantInformationforCYP2A6-50707
|Annotation=This variant results in enzyme inactivity and is considered to be part of the "slow metabolizer" group; part of the CYP2A6*2 haplotype.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=In-Depth
|PharmGKB Accession ID=PA161145202
}}

{{omim
|id=122720
|rsnum=1801272
|variant=0001
}}

{{PMID Auto
|PMID=21685187
|Title=Genome-wide association study of smoking behaviours in patients with COPD
|OA=1
}}

{{PMID Auto
|PMID=22046326
|Title='Smoking Genes': A Genetic Association Study
|OA=1
}}

{{ClinVar
|rsid=1801272
|Reversed=1
|FwdREF=T
|FwdALT=A
|REF=A
|ALT=T
|RSPOS=41354533
|CHROM=19
|GMAF=0.0128
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050378000000150517130100
|GENEINFO=CYP2A6:1548
|GENE_NAME=CYP2A6
|GENE_ID=1548
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.41354533A>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=122720.0001
|CLNSIG=5
|CLNCUI=CN078029
|CLNDBN=Warfarin response; Nicotine, poor metabolism of; Cyp2a6, v1; CYPA6*2
|Disease=Warfarin response; Nicotine; Cyp2a6; CYPA6*2
|CLNACC=RCV000018482.26; RCV000018483.26; RCV000018484.26; RCV000018485.26
|Tags=RV;PM;TPA;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.9871; 0.01286
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=CN078029:122700
|COMMON=1
}}

{{PMID Auto
|PMID=18936436
|Title=Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
|OA=1
}}

{{PMID Auto
|PMID=18941913
|Title=Coffee intake, variants in genes involved in caffeine metabolism, and the risk of epithelial ovarian cancer.
|OA=1
}}

{{PMID Auto
|PMID=19479063
|Title=Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression.
|OA=1
}}

{{PMID Auto
|PMID=21245293
|Title=Correlated genotypes in friendship networks.
|OA=1
}}

{{GET Evidence
|gene=CYP2A6
|aa_change=Leu160His
|aa_change_short=L160H
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1801272
|overall_frequency_n=185
|overall_frequency_d=10754
|overall_frequency=0.0172029
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|in_omim=Y
|in_pharmgkb=Y
|pph2_score=0.045
|nblosum100=6
|autoscore=2
|webscore=N
|n_web_uneval=9
}}

{{PMID Auto GWAS
  |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.
  |RiskAllele=T
  |Pval=5E-6
  |OR=9.40
  |ORtxt=[5.48-13.32] unit decrease
  |OA=1
}}

{{PMID Auto
|PMID=23130019
|Title=Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}