{{Rsnum
|rsid=1800440
|Gene=CYP1B1
|Chromosome=2
|position=38298139
|Orientation=minus
|GMAF=0.09871
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}
{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 66.4 | 29.2 | 4.4
| HCB | 99.3 | 0.7 | 0.0
| JPT | 99.1 | 0.9 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 94.7 | 5.3 | 0.0
| CHB | 99.3 | 0.7 | 0.0
| CHD | 99.1 | 0.9 | 0.0
| GIH | 59.4 | 36.6 | 4.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 81.0 | 15.5 | 3.4
| MKK | 99.4 | 0.6 | 0.0
| TSI | 59.8 | 37.3 | 2.9
| HapMapRevision=28
}}{{PMID Auto
|PMID=19730035
|Title=CYP1B1 genotype and risk of cardiovascular disease, pulmonary disease, and cancer in 50,000 individuals
}}

{{omim
|desc=CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1
|id=601771
|rsnum=1800440
}}
{{PMID Auto
|PMID=19895167
|Title=CYP1B1 gene polymorphism modifies pancreatic cancer risk but not survival
}}

{{PMID Auto
|PMID=20381444
|Title=Polymorphisms in genes of the steroid hormone biosynthesis and metabolism pathways and endometrial cancer risk
}}

{{PMID Auto
|PMID=22418777
|Title=Estrogen-related genes and their contribution to racial differences in breast cancer risk
|OA=1
}}

{{PMID Auto
|PMID=22459615
|Title=CYP1B1 Asn453Ser polymorphism and colorectal cancer risk: a meta-analysis
}}

{{PMID Auto
|PMID=16172230
|Title=Risk of testicular germ cell cancer in relation to variation in maternal and offspring cytochrome p450 genes involved in catechol estrogen metabolism.
}}

{{PMID Auto
|PMID=16864595
|Title=The influence of genetic polymorphisms in Ahr, CYP1A1, CYP1A2, CYP1B1, GST M1, GST T1 and UGT1A1 on urine 1-hydroxypyrene glucuronide concentrations in healthy subjects from Rio Grande do Sul, Brazil.
}}

{{PMID Auto
|PMID=17116718
|Title=Dietary phytoestrogen intake is associated with reduced colorectal cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=17160896
|Title=Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.
|OA=1
}}

{{PMID Auto
|PMID=17615053
|Title=Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18470941
|Title=Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.
}}

{{PMID Auto
|PMID=18544568
|Title=CYP1B1 variants are associated with prostate cancer in non-Hispanic and Hispanic Caucasians.
|OA=1
}}

{{PMID Auto
|PMID=18628428
|Title=Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=18632753
|Title=Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.
|OA=1
}}

{{PMID Auto
|PMID=18805939
|Title=Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
|OA=1
}}

{{PMID Auto
|PMID=18989382
|Title=Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.
|OA=1
}}

{{PMID Auto
|PMID=18990750
|Title=Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19015200
|Title=Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.
|OA=1
}}

{{PMID Auto
|PMID=19287484
|Title=Clique-finding for heterogeneity and multidimensionality in biomarker epidemiology research: the CHAMBER algorithm.
|OA=1
}}

{{PMID Auto
|PMID=19293312
|Title=Association of CYP1B1 haplotypes and breast cancer risk in Caucasian women.
|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=19597567
|Title=Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study.
|OA=1
}}

{{PMID Auto
|PMID=19630952
|Title=Sex steroid metabolism polymorphisms and mammographic density in pre- and early perimenopausal women.
|OA=1
}}

{{PMID Auto
|PMID=19754948
|Title=Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study.
|OA=1
}}

{{PMID Auto
|PMID=20057908
|Title=Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.
|OA=1
}}

{{PMID Auto
|PMID=20701755
|Title=Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility.
|OA=1
}}

{{PMID Auto
|PMID=20878130
|Title=Association between exposure-relevant polymorphisms in CYP1B1, EPHX1, NQO1, GSTM1, GSTP1 and GSTT1 and risk of colorectal cancer in a Czech population.
}}

{{PMID Auto
|PMID=20889730
|Title=Cytochrome P450 1B1 gene polymorphisms as predictors of anticancer drug activity: studies with in vitro models.
}}

{{PMID Auto
|PMID=21674184
|Title=Current evidence on the relationship between CYP1B1 polymorphisms and lung cancer risk: a meta-analysis.
}}

{{PMID Auto
|PMID=22466345
|Title=Joint effects of smoking and gene variants involved in sex steroid metabolism on hot flashes in late reproductive-age women.
|OA=1
}}

{{GET Evidence
|gene=CYP1B1
|aa_change=Asn453Ser
|aa_change_short=N453S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1800440
|overall_frequency_n=1432
|overall_frequency_d=10758
|overall_frequency=0.13311
|n_genomes=10
|n_genomes_annotated=0
|n_haplomes=11
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.837
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=3
|n_web_uneval=10
}}

{{PMID Auto
|PMID=23370603
|Title=Catechol-O-Methyltransferase and Cytochrome P-450 1B1 Polymorphisms and Endometrial Cancer Risk: A Meta-analysis
}}

{{ClinVar
|ALT=C
|CAF=0.9013; 0.09871
|CHROM=2
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.38298139T>C
|CLNSIG=1
|COMMON=1
|FwdALT=G
|FwdREF=A
|GENEINFO=CYP1B1:1545
|GENE_ID=1545
|GENE_NAME=CYP1B1
|REF=T
|RSPOS=38298139
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;TPA;PMC;S3D;SLO;NSM;REF;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|VC=SNV
|VP=0x050378000a0115051f130101
|WGT=1
|dbSNPBuildID=89
|rsid=1800440
}}

{{PMID Auto
|PMID=22633539
|Title=Selected polymorphisms in sex hormone-related genes, circulating sex hormones and risk of endometrial cancer.
|OA=1
}}

{{PMID Auto
|PMID=22840970
|Title=Genetic polymorphisms in the aryl hydrocarbon receptor signaling pathway as potential risk factors of menopausal hot flashes.
|OA=1
}}

{{PMID Auto
|PMID=23175176
|Title=Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
}}

{{PMID Auto
|PMID=23325794
|Title=Genetic polymorphisms in catalase and CYP1B1 determine DNA adduct formation by benzo(a)pyrene ex vivo.
}}

{{PMID Auto
|PMID=23213277
|Title=Absence of NR2E1 mutations in patients with aniridia.
|OA=1
}}

{{PMID Auto
|PMID=25027399
|Title=Cytochrome P450 1B1 polymorphisms and risk of renal cell carcinoma in men
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}