{{Rsnum
|rsid=700519
|Gene=CYP19A1
|Chromosome=15
|position=51215771
|Orientation=minus
|GMAF=0.09871
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=CYP19A1
}}{{PharmGKB
|RSID=rs700519
|Name_s=CYP19A1: R264C; 27142C>T; Arg264Cys
|Gene_s=CYP19A1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:16322257
|Annotation=This variant is the defining SNP for CYP19A1*4. It is associated with significant decreases in levels of activity compared with the wild-type (WT) enzyme after transient expression in COS-1 cells.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA162355723
}}

{{PMID Auto
|PMID=20144226
|Title=A polymorphism at the 3'-UTR region of the aromatase gene defines a subgroup of postmenopausal breast cancer patients with poor response to neoadjuvant letrozole
|OA=1
}}

{{PMID Auto
|PMID=21282199
|Title=A common polymorphism in the human aromatase gene alters the risk for polycystic ovary syndrome and modifies aromatase activity in vitro
}}

{{ population diversity
| geno1 = (C;C)
| geno2 = (C;T)
| geno3 = (T;T)
| CEU | 93.8 | 6.2 | 0.0
| CHB | 76.7 | 23.3 | 0.0
| JPT | 59.3 | 26.7 | 14.0
| YRI | 62.5 | 32.1 | 5.4
}}

{{PMID Auto
|PMID=22185650
|Title=A non-synonymous coding change in the CYP19A1 gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture
|OA=1
}}

{{PMID Auto
|PMID=17119036
|Title=Genetic polymorphisms of the CYP19A1 gene and breast cancer survival.
}}

{{PMID Auto
|PMID=17507620
|Title=Polymorphisms in the CYP19A1 (aromatase) gene and endometrial cancer risk in Chinese women.
}}

{{PMID Auto
|PMID=17827443
|Title=Interaction of soy food and tea consumption with CYP19A1 genetic polymorphisms in the development of endometrial cancer.
|OA=1
}}

{{PMID Auto
|PMID=18049890
|Title=Single nucleotide polymorphisms of the aromatase gene (CYP19A1), HER2/neu status, and prognosis in breast cancer patients.
}}

{{PMID Auto
|PMID=18163429
|Title=Genetic polymorphisms in CYP17, CYP3A4, CYP19A1, SRD5A2, IGF-1, and IGFBP-3 and prostate cancer risk in African-American men: the Flint Men's Health Study.
|OA=1
}}

{{PMID Auto
|PMID=18199708
|Title=Haplotype analyses of CYP19A1 gene variants and breast cancer risk: results from the Shanghai Breast Cancer Study.
|OA=1
}}

{{PMID Auto
|PMID=18622258
|Title=Association of genetic polymorphisms in CYP19A1 and blood levels of sex hormones among postmenopausal Chinese women.
|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=18805939
|Title=Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
|OA=1
}}

{{PMID Auto
|PMID=18941913
|Title=Coffee intake, variants in genes involved in caffeine metabolism, and the risk of epithelial ovarian cancer.
|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=19064562
|Title=Genetic variation in CYP19A1 and risk of breast cancer and fibrocystic breast conditions among women in Shanghai, China.
|OA=1
}}

{{PMID Auto
|PMID=19152063
|Title=Polymorphisms in estrogen metabolism and estrogen pathway genes and the risk of miscarriage.
}}

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

{{PMID Auto
|PMID=21106711
|Title=Estrogen receptor alpha and aromatase polymorphisms affect risk, prognosis, and therapeutic outcome in men with castration-resistant prostate cancer treated with docetaxel-based therapy.
|OA=1
}}

{{PMID Auto
|PMID=22638611
|Title=Estrogen synthesis genes CYP19A1, HSD3B1, and HSD3B2 in hypertensive disorders of pregnancy.
}}

{{GET Evidence
|gene=CYP19A1
|aa_change=Arg264Cys
|aa_change_short=R264C
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs700519
|overall_frequency_n=850
|overall_frequency_d=10756
|overall_frequency=0.0790257
|n_genomes=15
|n_genomes_annotated=0
|n_haplomes=16
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|in_pharmgkb=Y
|pph2_score=0.001
|genetests_testable=Y
|nblosum100=8
|autoscore=3
|webscore=N
|n_web_uneval=9
}}

{{PMID Auto
|PMID=23139742
|Title=Functional analyses of endometriosis-related polymorphisms in the estrogen synthesis and metabolism-related genes
|OA=1
}}

{{PMID Auto
|PMID=24430361
|Title=Genetic polymorphisms of ESR1, ESR2, CYP17A1, and CYP19A1 and the risk of breast cancer: a case control study from North India
}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}