{{Rsnum
|rsid=10012
|Gene=CYP1B1
|Chromosome=2
|position=38075247
|Orientation=minus
|GMAF=0.3356
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=CYP1B1
}}{{omim
|desc=CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1
|id=601771
|rsnum=10012
}}
{{PMID Auto
|PMID=20701755
|Title=Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility
|OA=1
}}

{{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=18268125
|Title=Assessment of interactions between PAH exposure and genetic polymorphisms on PAH-DNA adducts in African American, Dominican, and Caucasian mothers and newborns.
|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=18763031
|Title=CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women.
|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=19168589
|Title=Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China.
|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=Arg48Gly
|aa_change_short=R48G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs10012
|overall_frequency_n=3724
|overall_frequency_d=10658
|overall_frequency=0.349409
|n_genomes=21
|n_genomes_annotated=0
|n_haplomes=25
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=6
|autoscore=3
|n_web_uneval=8
}}

{{ClinVar
|ALT=C
|CAF=0.6644; 0.3356
|CHROM=2
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.38302390G>C
|CLNSIG=2
|COMMON=1
|FwdALT=G
|FwdREF=C
|GENEINFO=CYP1B1:1545
|GENE_ID=1545
|GENE_NAME=CYP1B1
|REF=G
|RSPOS=38302390
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;TPA;PMC;SLO;VLD;G5A;G5;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050178000000170116110100
|WGT=0
|dbSNPBuildID=52
|rsid=10012
|CLNACC=RCV000078125.1
|CLNDBN=AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
|CLNSRC=Emory University
|CLNSRCID=11775
|Disease=AllHighlyPenetrant
}}

{{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 v3}}
{{on chip | 23andMe v4}}