rs700519

minus

Geno	Mag	Summary
(C;C)	0	common in complete genomics

Make rs700519(C;T)

Make rs700519(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

51215771

Gene

CYP19A1

is a	snp
is	mentioned by
dbSNP	rs700519
dbSNP (classic)	rs700519
ClinGen	rs700519
ebi	rs700519
HLI	rs700519
Exac	rs700519
Gnomad	rs700519
Varsome	rs700519
LitVar	rs700519
Map	rs700519
PheGenI	rs700519
Biobank	rs700519
1000 genomes	rs700519
hgdp	rs700519
ensembl	rs700519
geneview	rs700519
scholar	rs700519
google	rs700519
pharmgkb	rs700519
gwascentral	rs700519
openSNP	rs700519
23andMe	rs700519
SNPshot	rs700519
SNPdbe	rs700519
MSV3d	rs700519
GWAS Ctlg	rs700519

GMAF

0.09871

Max Magnitude

0

[PMID 20144226 ] 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 22185650 ] 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 17827443 ] 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 18163429 ] 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 18199708 ] Haplotype analyses of CYP19A1 gene variants and breast cancer risk: results from the Shanghai Breast Cancer Study.

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

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

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

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

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

[PMID 19064562 ] 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 19168589 ] Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China.

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

[PMID 21106711 ] 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.

[PMID 23139742 ] 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	Probable-non-pathogenic
Disease	not specified Aromatase deficiency
Variation	info
Gene	CYP19A1
CLNDBN	not specified Aromatase deficiency
Reversed	1
HGVS	NC_000015.9:g.51507968G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000124653.1, RCV000278064.1,