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rs700519

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs700519(C;T)
Make rs700519(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position51215771
GeneCYP19A1
is asnp
is mentioned by
dbSNPrs700519
ebirs700519
HLIrs700519
Exacrs700519
Varsomers700519
Maprs700519
PheGenIrs700519
hapmaprs700519
1000 genomesrs700519
hgdprs700519
ensemblrs700519
gopubmedrs700519
geneviewrs700519
scholarrs700519
googlers700519
pharmgkbrs700519
gwascentralrs700519
openSNPrs700519
23andMers700519
23andMe allrs700519
SNP Nexus

SNPshotrs700519
SNPdbers700519
MSV3drs700519
GWAS Ctlgrs700519
GMAF0.09871
Max Magnitude0


[PMID 20144226OA-icon.png] 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


[PMID 21282199] A common polymorphism in the human aromatase gene alters the risk for polycystic ovary syndrome and modifies aromatase activity in vitro

? (C;C) (C;T) (T;T)
[PMID 22185650OA-icon.png] A non-synonymous coding change in the CYP19A1 gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture


[PMID 17119036] Genetic polymorphisms of the CYP19A1 gene and breast cancer survival.


[PMID 17507620] Polymorphisms in the CYP19A1 (aromatase) gene and endometrial cancer risk in Chinese women.


[PMID 17827443OA-icon.png] Interaction of soy food and tea consumption with CYP19A1 genetic polymorphisms in the development of endometrial cancer.


[PMID 18049890] Single nucleotide polymorphisms of the aromatase gene (CYP19A1), HER2/neu status, and prognosis in breast cancer patients.


[PMID 18163429OA-icon.png] 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.


[PMID 18199708OA-icon.png] Haplotype analyses of CYP19A1 gene variants and breast cancer risk: results from the Shanghai Breast Cancer Study.


[PMID 18622258OA-icon.png] Association of genetic polymorphisms in CYP19A1 and blood levels of sex hormones among postmenopausal Chinese women.


[PMID 18628428OA-icon.png] Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer.


[PMID 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.


[PMID 18941913OA-icon.png] Coffee intake, variants in genes involved in caffeine metabolism, and the risk of epithelial ovarian cancer.


[PMID 19015200OA-icon.png] Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.


[PMID 19064562OA-icon.png] Genetic variation in CYP19A1 and risk of breast cancer and fibrocystic breast conditions among women in Shanghai, China.


[PMID 19152063] Polymorphisms in estrogen metabolism and estrogen pathway genes and the risk of miscarriage.


[PMID 19168589OA-icon.png] Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China.


[PMID 19630952OA-icon.png] Sex steroid metabolism polymorphisms and mammographic density in pre- and early perimenopausal women.


[PMID 21106711OA-icon.png] Estrogen receptor alpha and aromatase polymorphisms affect risk, prognosis, and therapeutic outcome in men with castration-resistant prostate cancer treated with docetaxel-based therapy.


[PMID 22638611] Estrogen synthesis genes CYP19A1, HSD3B1, and HSD3B2 in hypertensive disorders of pregnancy.


GET Evidence
CYP19A1-R264C
aa_change Arg264Cys
aa_change_short R264C
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.0790257
summary



[PMID 23139742OA-icon.png] Functional analyses of endometriosis-related polymorphisms in the estrogen synthesis and metabolism-related genes


[PMID 24430361] Genetic polymorphisms of ESR1, ESR2, CYP17A1, and CYP19A1 and the risk of breast cancer: a case control study from North India


ClinVar
Risk rs700519(T;T)
Alt rs700519(T;T)
Reference rs700519(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CYP19A1
CLNDBN not specified
Reversed 1
HGVS NC_000015.9:g.51507968G>A
CLNSRC ClinVar GeneDx
CLNACC RCV000124653.1,