rs727479
| Orientation | minus |
| Stabilized | minus |
| Make rs727479(G;G) |
| Make rs727479(G;T) |
| Make rs727479(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 51242350 |
| Gene | CYP19A1, MIR4713 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727479 |
| dbSNP (classic) | rs727479 |
| ClinGen | rs727479 |
| ebi | rs727479 |
| HLI | rs727479 |
| Exac | rs727479 |
| Gnomad | rs727479 |
| Varsome | rs727479 |
| LitVar | rs727479 |
| Map | rs727479 |
| PheGenI | rs727479 |
| Biobank | rs727479 |
| 1000 genomes | rs727479 |
| hgdp | rs727479 |
| ensembl | rs727479 |
| geneview | rs727479 |
| scholar | rs727479 |
| rs727479 | |
| pharmgkb | rs727479 |
| gwascentral | rs727479 |
| openSNP | rs727479 |
| 23andMe | rs727479 |
| SNPshot | rs727479 |
| SNPdbe | rs727479 |
| MSV3d | rs727479 |
| GWAS Ctlg | rs727479 |
| GMAF | 0.315 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19124504
] endometrial cancer rs727479(A) odds ratio per allele of 1.08, 95% confidence interval of 1.02-1.14, and P = 0.009
[PMID 19366906] BRCA1 Breast Cancer Risk Is Modified by CYP19 Polymorphisms in Ashkenazi Jews
[PMID 19789370] CYP19A1 Genetic Variation in Relation to Prostate Cancer Risk and Circulating Sex Hormone Concentrations in Men from the Breast and Prostate Cancer Cohort Consortium
[PMID 16733710] Association analyses of CYP19 gene polymorphisms with height variation in a large sample of Caucasian nuclear families.
[PMID 16782804] Polymorphisms of estrogen-biosynthesis genes CYP17 and CYP19 may influence age at menarche: a genetic association study in Caucasian females.
[PMID 17325027] Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women.
[PMID 18199708] Haplotype analyses of CYP19A1 gene variants and breast cancer risk: results from the Shanghai Breast Cancer Study.
[PMID 18245543] A single-nucleotide polymorphism in the aromatase gene is associated with the efficacy of the aromatase inhibitor letrozole in advanced breast carcinoma.
[PMID 18622258] Association of genetic polymorphisms in CYP19A1 and blood levels of sex hormones among postmenopausal Chinese women.
[PMID 18667686] Association of two common single-nucleotide polymorphisms in the CYP19A1 locus and ovarian cancer risk.
[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 19794821] Anastrozole Use in Early Stage Breast Cancer of Post-Menopausal Women.
[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.
| GWAS snp | |
|---|---|
| PMID | [PMID 22675492]
|
| Trait | |
| Title | Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women. |
| Risk Allele | C |
| P-val | 5E-7 |
| Odds Ratio | 0.1070 None |
[PMID 23129173] Plasma estrone sulfate concentrations and genetic variation at the CYP19A1 locus in postmenopausal women with early breast cancer treated with letrozole
[PMID 23700878] Research on aromatase gene (CYP19A1) polymorphisms as a predictor of endocrine therapy effectiveness in breast cancer
[PMID 23669293] CYP19A1 gene polymorphisms and risk of lung cancer.
[PMID 26574572] CYP19A1 fine-mapping and Mendelian randomisation: estradiol is causal for endometrial cancer
