{{Rsnum
|rsid=1056827
|Gene=CYP1B1
|Chromosome=2
|position=38075034
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=T
|GMAF=0.3223
|Gene_s=CYP1B1,LOC100288457
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 0.0 | 0.0 | 0.0
| HCB | 75.0 | 25.0 | 0.0
| JPT | 93.2 | 6.8 | 0.0
| YRI | 0.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 75.0 | 25.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}
{{PMID Auto
|PMID=19383894
|Title=Genetic Polymorphisms in the Catechol Estrogen Metabolism Pathway and Breast Cancer Risk
|OA=1
}}

{{omim
|desc=CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1
|id=601771
|rsnum=1056827
}}

Also known as 355G>T or A119S, the T allele is associated with gene variants CYP1B1*2, CYP1B1*6 and CYP1B1*7.

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

{{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=17548691
|Title=Associations between smoking, polymorphisms in polycyclic aromatic hydrocarbon (PAH) metabolism and conjugation genes and PAH-DNA adducts in prostate tumors differ by race.
|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=18763031
|Title=CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women.
|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=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=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=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.
}}

{{GET Evidence
|gene=CYP1B1
|aa_change=Ala119Ser
|aa_change_short=A119S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1056827
|overall_frequency_n=3383
|overall_frequency_d=9988
|overall_frequency=0.338706
|n_genomes=5
|n_genomes_annotated=0
|n_haplomes=5
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=3
|n_web_uneval=10
}}

{{PMID Auto
|PMID=23206929
|Title=Association study of multiple gene polymorphisms with the risk of adult-onset primary open-angle glaucoma in a Mexican population
}}

{{PMID Auto
|PMID=24320736
|Title=Role of single nucleotide polymorphisms in estrogen-metabolizing enzymes and susceptibility to uterine leiomyoma in Han Chinese: A case-control study
}}

{{PMID Auto
|PMID=25027399
|Title=Cytochrome P450 1B1 polymorphisms and risk of renal cell carcinoma in men
}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | HumanOmni1Quad}}