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rs1801272

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/141
Chromosome19
Position40848628
GeneCYP2A6
is asnp
is mentioned by
dbSNPrs1801272
ebirs1801272
HLIrs1801272
Exacrs1801272
Varsomers1801272
Maprs1801272
PheGenIrs1801272
hapmaprs1801272
1000 genomesrs1801272
hgdprs1801272
ensemblrs1801272
gopubmedrs1801272
geneviewrs1801272
scholarrs1801272
googlers1801272
pharmgkbrs1801272
gwascentralrs1801272
openSNPrs1801272
23andMers1801272
23andMe allrs1801272
SNP Nexus

SNPshotrs1801272
SNPdbers1801272
MSV3drs1801272
GWAS Ctlgrs1801272
GMAF0.01286
Max Magnitude2
? (A;A) (A;T) (T;T) 28

minor form is a slow metaboliser according to pharmgkb


OMIM122720
Desc
Variant0001
Relatedalso
[PMID 21685187OA-icon.png] Genome-wide association study of smoking behaviours in patients with COPD


[PMID 22046326OA-icon.png] '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 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


[PMID 18941913OA-icon.png] Coffee intake, variants in genes involved in caffeine metabolism, and the risk of epithelial ovarian cancer.


[PMID 19479063OA-icon.png] Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression.


[PMID 21245293OA-icon.png] Correlated genotypes in friendship networks.


GET Evidence
CYP2A6-L160H
aa_change Leu160His
aa_change_short L160H
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0172029
summary



GWAS snp
PMID [PMID 23049750OA-icon.png]
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 23130019OA-icon.png] Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations.