rs1048943
A SNP in the CYP1A1 gene on chromosome 15. Its most notable genotype is T;T.
- Gene
- CYP1A1
- Location
- Chr 1574,720,644 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 12%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs1048943 on the minus strand: (A;A). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 9 HapMap populations.
- AverageT;T 76%
- European ancestry (Utah)T;T 94%
- Han Chinese (Beijing)T;T 57%
- Japanese (Tokyo)T;T 64%
- Yoruba (Nigeria)T;T 100%
- African ancestry (Southwest US)T;T 91%
- Chinese (Denver)T;T 57%
- Gujarati IndianT;T 79%
- Mexican ancestry (Los Angeles)T;T 48%
- TuscanT;T 94%
Related
Notes
From SNPedia
Show notes, about 660 words
Also known as Ile462Val A4889G CYP1A1*2C Genome amplification of single sperm using multiple displacement amplification. Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method. Multilocus analysis of SNP and metabolic data within a given pathway. CYP1A1 and CYP1B1 polymorphisms and their association with estradiol and estrogen metabolites in women who are premenopausal and perimenopausal. Dietary phytoestrogen intake is associated with reduced colorectal cancer risk. Associations between smoking, polymorphisms in polycyclic aromatic hydrocarbon (PAH) metabolism and conjugation genes and PAH-DNA adducts in prostate tumors differ by race. Cytochrome P450 1A1 (CYP1A1) polymorphisms and breast cancer risk in Korean women. Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools. Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years. Polymorphisms of selected xenobiotic genes contribute to the development of papillary thyroid cancer susceptibility in Middle Eastern population. Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer. Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes. Paternal smoking, genetic polymorphisms in CYP1A1 and childhood leukemia risk. CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women. Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures. Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis. Polymorphisms of estrogen-related genes jointly confer susceptibility to human spermatogenic defect. Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk. Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways. Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium. Tobacco and estrogen metabolic polymorphisms and risk of non-small cell lung cancer in women. [Relationship between genetic polymorphisms of phase I and phase II metabolizing enzymes and DNA damage of workers exposed to vinyl chloride monomer]. Clique-finding for heterogeneity and multidimensionality in biomarker epidemiology research: the CHAMBER algorithm. Gene by smoking interaction in hypertension: identification of a major quantitative trait locus on chromosome 15q for systolic blood pressure in Mexican-Americans. Genetic polymorphisms in glutathione S-transferases and cytochrome P450s, tobacco smoking, and risk of non-Hodgkin lymphoma. Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression. CYP1A1 genotype modifies the impact of smoking on effectiveness of HAART among women. Sex steroid metabolism polymorphisms and mammographic density in pre- and early perimenopausal women. Polymorphisms of drug-metabolizing genes and risk of non-Hodgkin lymphoma. [Association of nasopharyngeal carcinoma risk with cytochrome P450 CYP1A1 gene polymorphisms]. Impact of CYP1A1 and COMT genotypes on breast cancer risk in Mexican women: a pilot study. Smoking, the xenobiotic pathway, and clubfoot. Quantitative trait analysis suggests polymorphisms of estrogen-related genes regulate human sperm concentrations and motility. Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis. Pharmacogenetic assessment of clinical outcome in patients with metastatic breast cancer treated with docetaxel plus capecitabine. Genetic polymorphisms involved in carcinogen metabolism and DNA repair and lung cancer risk in a Japanese population.
Source and license
Adapted from rs1048943 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.