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From SNPedia

Geno Mag Summary
(C;C) 0 common in clinvar
Make rs10046(C;T)
Make rs10046(T;T)
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs10046
1000 genomesrs10046
GWAS Ctlgrs10046
Max Magnitude0
? (C;C) (C;T) (T;T) 28

[PMID 18274619OA-icon.png] 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 19921206OA-icon.png] Association of polymorphisms in CYP19A1 and CYP3A4 genes with lower urinary tract symptoms, prostate volume, uroflow and PSA in a population-based sample

[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 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 22511967OA-icon.png] 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 16412218OA-icon.png] Multilocus analysis of SNP and metabolic data within a given pathway.

[PMID 17615053OA-icon.png] 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 17903296OA-icon.png] 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 18086758OA-icon.png] 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 18199708OA-icon.png] 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 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

[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 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 18636124OA-icon.png] Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.

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

[PMID 19794821OA-icon.png] 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 23342035OA-icon.png] Associations between Aromatase CYP19 rs10046 Polymorphism and Breast Cancer Risk: From a Case-Control to a Meta-Analysis of 20,098 Subjects

[PMID 23129173OA-icon.png] 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 24402127OA-icon.png] Analysis of the rs10046 Polymorphism of Aromatase (CYP19) in Premenopausal Onset of Human Breast Cancer

[PMID 22633539OA-icon.png] 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 24968701OA-icon.png] 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 25109722OA-icon.png] 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 26463708OA-icon.png] Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy

[PMID 27825388OA-icon.png] Impact of CYP19A1 and ESR1 variants on early-onset side effects during combined endocrine therapy in the TEXT trial.

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
CLNACC RCV000323501.1,

[PMID 33000295] Genetic variations in estrogen and progesterone pathway genes in preeclampsia patients and controls in Bavaria.