rs10046
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs10046(C;T) |
| Make rs10046(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 51210789 |
| Gene | CYP19A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10046 |
| dbSNP (classic) | rs10046 |
| ClinGen | rs10046 |
| ebi | rs10046 |
| HLI | rs10046 |
| Exac | rs10046 |
| Gnomad | rs10046 |
| Varsome | rs10046 |
| LitVar | rs10046 |
| Map | rs10046 |
| PheGenI | rs10046 |
| Biobank | rs10046 |
| 1000 genomes | rs10046 |
| hgdp | rs10046 |
| ensembl | rs10046 |
| geneview | rs10046 |
| scholar | rs10046 |
| rs10046 | |
| pharmgkb | rs10046 |
| gwascentral | rs10046 |
| openSNP | rs10046 |
| 23andMe | rs10046 |
| SNPshot | rs10046 |
| SNPdbe | rs10046 |
| MSV3d | rs10046 |
| GWAS Ctlg | rs10046 |
| GMAF | 0.41 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 18274619
] rs10046 is a SNP potentially linked in a gender-specific manner to hypertension
[PMID 19152063] rs10046(C;C) associated with miscarriages (P = 0.017)
[PMID 19366906] BRCA1 Breast Cancer Risk Is Modified by CYP19 Polymorphisms in Ashkenazi Jews
[PMID 19573564] Effect of the cytochrome P450 19 (aromatase) gene polymorphism on personality traits in healthy subjects
[PMID 19921206] Association of polymorphisms in CYP19A1 and CYP3A4 genes with lower urinary tract symptoms, prostate volume, uroflow and PSA in a population-based sample
[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 19952760] Polymorphisms in estrogen related genes may modify the protective effect of isoflavones against prostate cancer risk in Japanese men
[PMID 20432167] Dietary isoflavone intake, polymorphisms in the CYP17, CYP19, 17beta-HSD1, and SHBG genes, and risk of breast cancer in case-control studies in Japanese, Japanese Brazilians, and non-Japanese Brazilians
[PMID 20586553] Polymorphisms in ESR1, ESR2 and HSD17B1 genes are associated with fertility status in endometriosis
[PMID 20797716] Epistasis between CYP19A1 and ESR1 polymorphisms is associated with premature ovarian failure
[PMID 21790896] Genetic and environmental predictors, endogenous hormones and growth factors and risk of estrogen receptor-positive breast cancer in Japanese women
[PMID 22511967] Potential Role of Aromatase over Estrogen Receptor Gene Polymorphisms in Migraine Susceptibility: A Case Control Study from North India
[PMID 15199113] Polymorphisms associated with circulating sex hormone levels in postmenopausal women.
[PMID 16412218] Multilocus analysis of SNP and metabolic data within a given pathway.
[PMID 17615053] Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk.
[PMID 17893373] Sex and body mass index specific regulation of blood pressure by CYP19A1 gene variants.
[PMID 17903296] Genome-wide association with bone mass and geometry in the Framingham Heart Study.
[PMID 18049890] Single nucleotide polymorphisms of the aromatase gene (CYP19A1), HER2/neu status, and prognosis in breast cancer patients.
[PMID 18086758] Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set.
[PMID 18159088] Association of FSH receptor and CYP19A1 gene variations with sterility and ovarian hyperstimulation syndrome.
[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 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[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 18629629] Association of genetic polymorphisms of ER-alpha and the estradiol-synthesizing enzyme genes CYP17 and CYP19 with breast cancer risk in Chinese women.
[PMID 18636124] Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.
[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 19630952] Sex steroid metabolism polymorphisms and mammographic density in pre- and early perimenopausal women.
[PMID 19794821] Anastrozole Use in Early Stage Breast Cancer of Post-Menopausal Women.
[PMID 21269619] Epistasis between FSHR and CYP19A1 polymorphisms is associated with premature ovarian failure.
[PMID 23342035] Associations between Aromatase CYP19 rs10046 Polymorphism and Breast Cancer Risk: From a Case-Control to a Meta-Analysis of 20,098 Subjects
[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 24402127] Analysis of the rs10046 Polymorphism of Aromatase (CYP19) in Premenopausal Onset of Human Breast Cancer
[PMID 22633539] Selected polymorphisms in sex hormone-related genes, circulating sex hormones and risk of endometrial cancer.
[PMID 23669293] CYP19A1 gene polymorphisms and risk of lung cancer.
[PMID 23809139] Polymorphic variants of CYP17 and CYP19A and risk of infertility in endometriosis.
[PMID 24968701] CYP19 gene variant confers susceptibility to endometriosis-associated infertility in Chinese women
[PMID 24274352] Green tea consumption and breast cancer risk in Japanese women: a case-control study
[PMID 25109722] Role of genetic & environment risk factors in the aetiology of colorectal cancer in Malaysia
[PMID 26415088] Sex and Obesity-specific Association of Aromatase (CYP19A1) Gene Variant with Apolipoprotein B and Hypertension
[PMID 26463708] Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy
[PMID 27825388] Impact of CYP19A1 and ESR1 variants on early-onset side effects during combined endocrine therapy in the TEXT trial.
| ClinVar | |
|---|---|
| Risk | rs10046(T;T) |
| Alt | rs10046(T;T) |
| Reference | Rs10046(C;C) |
| Significance | Non-pathogenic |
| Disease | Aromatase deficiency |
| Variation | info |
| Gene | CYP19A1 |
| CLNDBN | Aromatase deficiency |
| Reversed | 1 |
| HGVS | NC_000015.9:g.51502986G>A |
| CLNSRC | |
| CLNACC | RCV000323501.1, |
[PMID 33000295] Genetic variations in estrogen and progesterone pathway genes in preeclampsia patients and controls in Bavaria.
