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rs1048943

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
Make rs1048943(A;G)
Make rs1048943(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position74720644
GeneCYP1A1
is asnp
is mentioned by
dbSNPrs1048943
ebirs1048943
HLIrs1048943
Exacrs1048943
Varsomers1048943
Maprs1048943
PheGenIrs1048943
hapmaprs1048943
1000 genomesrs1048943
hgdprs1048943
ensemblrs1048943
gopubmedrs1048943
geneviewrs1048943
scholarrs1048943
googlers1048943
pharmgkbrs1048943
gwascentralrs1048943
openSNPrs1048943
23andMers1048943
23andMe allrs1048943
SNP Nexus

SNPshotrs1048943
SNPdbers1048943
MSV3drs1048943
GWAS Ctlgrs1048943
GMAF0.1198
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
CYP1A1-I462V
aa_change Ile462Val
aa_change_short I462V
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.0269567
summary



[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.