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From SNPedia

Make rs4986938(A;A)
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ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs4986938
23andMe allrs4986938
SNP Nexus

GWAS Ctlgrs4986938
Max Magnitude
? (A;A) (A;G) (G;G) 28

[PMID 19298602] Isoflavone, polymorphisms in estrogen receptor genes and breast cancer risk in case-control studies in Japanese, Japanese Brazilians and non-Japanese Brazilians.

[PMID 19111408OA-icon.png] Association of estrogen receptor 2 gene polymorphisms with obesity in women (obesity and estrogen receptor 2 gene)

[PMID 19473078] Estrogen receptor Beta gene variant is associated with vascular dementia in elderly women

[PMID 19386104OA-icon.png] Age-specific effects of estrogen receptors' polymorphisms on the bone traits in healthy fertile women: the BONTURNO study

[PMID 19032032OA-icon.png] Associations of the estrogen receptors 1 and 2 gene polymorphisms with the metabolic syndrome in women

[PMID 19654868OA-icon.png] Genetic polymorphisms of estrogen receptors alpha and beta and the risk of developing prostate cancer

[PMID 20390341] A systematic review of the relationship between polymorphic sites in the estrogen receptor-beta (ESR2) gene and breast cancer risk

[PMID 19739075] Polymorphisms in genes of the steroid receptor superfamily modify postmenopausal breast cancer risk associated with menopausal hormone therapy

[PMID 20172949OA-icon.png] Polymorphisms of estrogen receptors and risk of biliary tract cancers and gallstones: a population-based study in Shanghai, China

[PMID 20399928] Estrogen receptor beta gene polymorphism and intraocular pressure elevation in female patients with primary open-angle glaucoma.

[PMID 22678799] [Association between estrogen receptor beta gene polymorphisms in Chinese Uygur patients and intrahepatic cholestasis of pregnancy]

[PMID 22759347OA-icon.png] Association of estrogen receptor beta variants and serum levels of estradiol with risk of colorectal cancer: a case control study

[PMID 22701696OA-icon.png] Genetic Polymorphisms Influence the Ovarian Response to rFSH Stimulation in Patients Undergoing In Vitro Fertilization Programs with ICSI

[PMID 16118344OA-icon.png] Polymorphisms in the estrogen receptor beta (ESR2) gene are associated with bone mineral density in Caucasian men and women.

[PMID 17935138OA-icon.png] Haplotypes of the estrogen receptor beta gene and breast cancer risk.

[PMID 17941906] Polymorphism of the oestrogen receptor beta gene (ESR2) is associated with susceptibility to Graves' disease.

[PMID 18053221OA-icon.png] Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis--a cohort study.

[PMID 18487282] Association between ESR2 genetic variants and risk of myocardial infarction.

[PMID 18592033OA-icon.png] Sex steroid-related candidate genes in psychiatric disorders.

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

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

[PMID 19337586OA-icon.png] Do Estrogen Receptor beta Polymorphisms Play A Role in the Pharmacogenetics of Estrogen Signaling?

[PMID 19438492] Estrogen receptor polymorphisms and the risk of endometrial cancer.

[PMID 19555469OA-icon.png] A prospective study of androgen levels, hormone-related genes and risk of rheumatoid arthritis.

[PMID 19754929OA-icon.png] Effects of two common polymorphisms in the 3' untranslated regions of estrogen receptor beta on mRNA stability and translatability.

[PMID 19927160] Association between ESR1 and ESR2 gene polymorphisms and hyperlipidemia in Chinese Han postmenopausal women.

[PMID 20080857] Endothelial function, but not carotid intima-media thickness, is affected early in menopause and is associated with severity of hot flushes.

[PMID 20655613OA-icon.png] Haplotypes of estrogen receptor-beta and risk of non-small cell lung cancer in women.

[PMID 20961965] Differential association of juvenile and adult systemic lupus erythematosus with genetic variants of oestrogen receptors alpha and beta.

[PMID 21429951] Quantitative trait analysis suggests polymorphisms of estrogen-related genes regulate human sperm concentrations and motility.

[PMID 21762042] Oestrogen receptor polymorphisms in female patients with rheumatoid arthritis.

[PMID 21804148OA-icon.png] Oestrogen receptor polymorphisms and late-life depression.

[PMID 22011627] Genetic polymorphisms in estrogen receptors and sexual dimorphism in fat redistribution in HIV-infected patients on HAART.

[PMID 22155094OA-icon.png] Gender differences in the IL6 -174G>C and ESR2 1730G>A polymorphisms and the risk of Parkinson's disease.

[PMID 22183267] Association of estrogen receptor beta gene polymorphisms with vascular dementia in women.

[PMID 22228197] Estrogen receptors alpha (rs2234693 and rs9340799), and beta (rs4986938 and rs1256049) genes polymorphism in prostate cancer: Evidence for association with risk and histopathological tumor characteristics in Iranian men.

[PMID 22324545] Are polymorphisms in oestrogen receptors genes associated with lipid levels in response to hormone therapy?

[PMID 22463697] Association of polymorphisms in the estrogen receptor beta (ESR2) with unexplained recurrent spontaneous abortion (URSA) in Chinese population.

GET Evidence
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.331195

[PMID 23686919] Impact of polymorphisms in the oestrogen receptors alpha and beta (ESR1, ESR2) genes on risk of vasculogenic erectile dysfunction

[PMID 23274843] Given breast cancer, is fat better than thin? Impact of the estrogen receptor beta gene polymorphisms

[PMID 22906475] The ESR2 AluI 1730G>A (rs4986938) gene polymorphism is associated with fibrinogen plasma levels in postmenopausal women.

[PMID 25128001OA-icon.png] Polymorphisms in estrogen receptors predict the risk of male infertility: a meta-analysis

[PMID 25973102OA-icon.png] Single nucleotide polymorphisms of ERβ and coronary atherosclerotic disease in Chinese Han women

[PMID 26590813] ESR1 and ESR2 polymorphisms in the BIG 1-98 trial comparing adjuvant letrozole versus tamoxifen or their sequence for early breast cancer