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From SNPedia

Geno Mag Summary
(A;A) 0
Make rs1048943(A;G)
Make rs1048943(G;G)
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs1048943
23andMe allrs1048943
SNP Nexus

GWAS Ctlgrs1048943
Max Magnitude0
? (A;A) (A;G) (G;G) 28

Also known as Ile462Val A4889G CYP1A1*2C

[PMID 19351467] [Relationship between gene polymorphism of CYP2E1, CYP1A1, IL-4 and medicamentosa-like dermatitis induced by trichloroethylene.]

[PMID 19168589OA-icon.png] Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China

[PMID 19608585] Genetic association study of CYP1A1 polymorphisms identifies risk haplotypes in non-small cell lung cancer

[PMID 20544687] Evidence that genetic variants of metabolic detoxication and cell cycle control are not related to gallbladder cancer risk in Chilean women

[PMID 15942023OA-icon.png] Genome amplification of single sperm using multiple displacement amplification.

[PMID 16026601OA-icon.png] Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method.

[PMID 16412218OA-icon.png] Multilocus analysis of SNP and metabolic data within a given pathway.

[PMID 16949388] CYP1A1 and CYP1B1 polymorphisms and their association with estradiol and estrogen metabolites in women who are premenopausal and perimenopausal.

[PMID 17116718OA-icon.png] Dietary phytoestrogen intake is associated with reduced colorectal cancer risk.

[PMID 17548691OA-icon.png] Associations between smoking, polymorphisms in polycyclic aromatic hydrocarbon (PAH) metabolism and conjugation genes and PAH-DNA adducts in prostate tumors differ by race.

[PMID 17603290] Cytochrome P450 1A1 (CYP1A1) polymorphisms and breast cancer risk in Korean women.

[PMID 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

[PMID 18298806OA-icon.png] Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.

[PMID 18601742OA-icon.png] Polymorphisms of selected xenobiotic genes contribute to the development of papillary thyroid cancer susceptibility in Middle Eastern population.

[PMID 18628428OA-icon.png] Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer.

[PMID 18632753OA-icon.png] Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.

[PMID 18691756OA-icon.png] Paternal smoking, genetic polymorphisms in CYP1A1 and childhood leukemia risk.

[PMID 18763031OA-icon.png] CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women.

[PMID 18787887OA-icon.png] Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.

[PMID 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

[PMID 18980759] Polymorphisms of estrogen-related genes jointly confer susceptibility to human spermatogenic defect.

[PMID 18990750OA-icon.png] Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.

[PMID 18992263OA-icon.png] Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.

[PMID 19127255OA-icon.png] Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium.

[PMID 19174490OA-icon.png] Tobacco and estrogen metabolic polymorphisms and risk of non-small cell lung cancer in women.

[PMID 19267064] [Relationship between genetic polymorphisms of phase I and phase II metabolizing enzymes and DNA damage of workers exposed to vinyl chloride monomer].

[PMID 19287484OA-icon.png] Clique-finding for heterogeneity and multidimensionality in biomarker epidemiology research: the CHAMBER algorithm.

[PMID 19330903OA-icon.png] Gene by smoking interaction in hypertension: identification of a major quantitative trait locus on chromosome 15q for systolic blood pressure in Mexican-Americans.

[PMID 19338043OA-icon.png] Genetic polymorphisms in glutathione S-transferases and cytochrome P450s, tobacco smoking, and risk of non-Hodgkin lymphoma.

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

[PMID 19537956OA-icon.png] CYP1A1 genotype modifies the impact of smoking on effectiveness of HAART among women.

[PMID 19630952OA-icon.png] Sex steroid metabolism polymorphisms and mammographic density in pre- and early perimenopausal women.

[PMID 19899130] Polymorphisms of drug-metabolizing genes and risk of non-Hodgkin lymphoma.

[PMID 19954069] [Association of nasopharyngeal carcinoma risk with cytochrome P450 CYP1A1 gene polymorphisms].

[PMID 20878621] Impact of CYP1A1 and COMT genotypes on breast cancer risk in Mexican women: a pilot study.

[PMID 21254355OA-icon.png] Smoking, the xenobiotic pathway, and clubfoot.

[PMID 21429951] Quantitative trait analysis suggests polymorphisms of estrogen-related genes regulate human sperm concentrations and motility.

[PMID 21708280OA-icon.png] Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.

[PMID 22426923] Pharmacogenetic assessment of clinical outcome in patients with metastatic breast cancer treated with docetaxel plus capecitabine.

[PMID 22525558] Genetic polymorphisms involved in carcinogen metabolism and DNA repair and lung cancer risk in a Japanese population.

GET Evidence
aa_change Ile462Val
aa_change_short I462V
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.0269567

[PMID 23785672OA-icon.png] Genetic polymorphisms in CYP1A1, CYP1B1 and COMT genes in Greenlandic Inuit and Europeans

[PMID 24084248] The GSTM1null (deletion) and MGMT84 rs12917 (Phe/Phe) haplotype are associated with bulky DNA adduct levels in human leukocytes

[PMID 24320736] Role of single nucleotide polymorphisms in estrogen-metabolizing enzymes and susceptibility to uterine leiomyoma in Han Chinese: A case-control study

[PMID 23816456] CYP1A1 genetic polymorphism and polycyclic aromatic hydrocarbons on pulmonary function in the elderly: haplotype-based approach for gene-environment interaction

[PMID 24499375] Association of Oxidative Stress Related Genes with Idiopathic Recurrent Miscarriage

[PMID 22949524] Gene-environment interaction in preterm delivery with special reference to organochlorine pesticides.

[PMID 23000097] Polymorphisms of catechol estrogens metabolism pathway genes and breast cancer risk in Mexican women.

[PMID 23021345] Gene-diet interactions on plasma lipid levels in the Inuit population.

[PMID 23107763] Host genetic risk factors for community-acquired pneumonia.

[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.

[PMID 23175176OA-icon.png] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.

[PMID 23178447] Lung cancer risk in relation to nicotinic acetylcholine receptor, CYP2A6 and CYP1A1 genotypes in the Bangladeshi population.

[PMID 23661361] The potential effect of gender in CYP1A1 and GSTM1 genotype-specific associations with pediatric brain tumor.

[PMID 23832578] CYP1A1 exon7 polymorphism is associated with lung cancer risk among the female population and among smokers: a meta-analysis.

[PMID 23848208] CYP1A1 gene polymorphisms and polycystic ovary syndrome risk: a meta-analysis and meta-regression.

[PMID 23852617] Common polymorphisms in the CYP1A1 and CYP11A1 genes and polycystic ovary syndrome risk: a meta-analysis and meta-regression.

[PMID 24777039] A Multicenter Case-Control Study on Screening of Single Nucleotide Polymorphisms in Estrogen-Metabolizing Enzymes and Susceptibility to Uterine Leiomyoma in Han Chinese

[PMID 24068433] CYP1A1, GCLC, AGT, AGTR1 gene-gene interactions in community-acquired pneumonia pulmonary complications

[PMID 24939416OA-icon.png] CYP1A1 Ile462Val polymorphism and colorectal cancer risk in Polish patients

[PMID 24657182] Association of CYP1A1 gene variants rs4646903 (T>C) and rs1048943 (A>G) with cervical cancer in a North Indian population

[PMID 25189712OA-icon.png] The association between CYP1A1 genetic polymorphisms and coronary artery disease in the Uygur and Han of China

[PMID 25928231OA-icon.png] Association of 42 SNPs with genetic risk for cervical cancer: an extensive meta-analysis

[PMID 26578427] CYP1A1 rs1048943 and rs4646903 polymorphisms associated with laryngeal cancer susceptibility among Asian populations: a meta-analysis

[PMID 27265845] The Association of CYP1A1 Gene With Cervical Cancer and Additional SNP-SNP Interaction in Chinese Women.

[PMID 27383824] The association of CYP1A1 genetic polymorphisms and additional gene-gene interaction with ischemic stroke in the eastern Han of China.