Rs2234693

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Orientationplus
is asnp
is mentioned by
dbSNPrs2234693
PheGenIrs2234693
nextbiors2234693
hapmaprs2234693
1000 genomesrs2234693
hgdprs2234693
ensemblrs2234693
gopubmedrs2234693
geneviewrs2234693
scholarrs2234693
googlers2234693
pharmgkbrs2234693
gwascentralrs2234693
openSNPrs2234693
23andMers2234693
23andMe allrs2234693
SNP Nexus

SNPshotrs2234693
SNPdbers2234693
MSV3drs2234693
GeneESR1
Chromosome6
Orientationplus
GMAF0.4362
Position152163335
ReferenceGRCh37 37.1/131
Max Magnitude
Make rs2234693(C;C)
Make rs2234693(C;T)
Make rs2234693(T;T)
? (C;C) (C;T) (T;T) 28
rs2234693 is a SNP upstream of the estrogen alpha receptor ESR1 gene, and is sometimes referred to as the -397T>C variation.

[PMID 17540666] rs2234693 rs9340799 and rs1256049 variations in ESR1 gene, in addition to the age of a woman, may predict the COH outcome in in vitro fertilization

[PMID 18309176] A study of 6,200+ Dutch individuals did not replicate previously reported associations between this SNP (rs2234693) and risk of ischemic stroke

[PMID 18424448OA-icon.png] rs2234693(C;C)more frequent in African American schizophrenics (p=0.01 to 0.001). haplotype less common in schizophrenia rs2273206(T), rs2273207(G), rs2228480(G).

Neighborrs8179176
Distance1
Neighborrs9340799
Distance46


[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 19321582] The Protective Association of High Plasma Enterolactone with Breast Cancer Is Reasonably Robust in Women with Polymorphisms in the Estrogen Receptor {alpha} and {beta} Genes.


[PMID 19386276] A functional polymorphism in estrogen receptor alpha gene is associated with Japanese methamphetamine induced psychosis

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


[PMID 19082882] Estrogen receptor genotype is associated with risk of venous thromboembolism during tamoxifen therapy

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

OMIM133430
DescESTROGEN RECEPTOR 1; ESR1
Variant
Relatedalso
[PMID 19032032OA-icon.png] Associations of the estrogen receptors 1 and 2 gene polymorphisms with the metabolic syndrome in women

[PMID 19608186] Qualitative assessment of previous evidence and an updated meta-analysis confirms lack of association between the ESR1 rs2234693 (PvuII) variant and coronary heart disease in men and women

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

[PMID 19673915] Role of the oestrogen receptor (ESR1 PvuII and ESR1 325 C-->G) and progesterone receptor (PROGINS) polymorphisms in genetic susceptibility to migraine in a North Indian population


[PMID 20046055] Association of the G2014G genotype in estrogen receptor 1 gene with failure of the mifepristone-induced termination of early pregnancy


[PMID 20095908] Estrogen Receptor-1 Genetic Polymorphisms for the Risk of Premature Ovarian Failure and Early Menopause


[PMID 20383761] Estrogen Receptor Alpha Polymorphisms and the Risk of Malignancies

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

[PMID 20586553] Polymorphisms in ESR1, ESR2 and HSD17B1 genes are associated with fertility status in endometriosis

[PMID 20674091] Estrogen receptor alpha gene variants are associated with Alzheimer's disease

[PMID 20429621] Estrogen receptor alpha polymorphisms: correlation with clinicopathological parameters in breast cancer


[PMID 21445546] Analysis of estrogen receptor alpha gene haplotype in Mexican mestizo patients with primary osteoarthritis of the knee


[PMID 21528353] Genetic variants of 6q25 and breast cancer susceptibility: a two-stage fine mapping study in a Chinese population


[PMID 22051074] Estrogen receptor alpha gene variants and major depressive episodes


[PMID 22009847] Association between adolescent idiopathic scoliosis with double curve and polymorphisms of calmodulin1 gene/estrogen receptor-? gene


[PMID 22511967OA-icon.png] Potential Role of Aromatase over Estrogen Receptor Gene Polymorphisms in Migraine Susceptibility: A Case Control Study from North India

[PMID 15217512OA-icon.png] Oestrogen receptor alpha gene haplotype and postmenopausal breast cancer risk: a case control study.

[PMID 15523071] Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes.

[PMID 16179580] Estrogen receptor alpha gene variation and the risk of stroke.

[PMID 16203927] No replication of association between estrogen receptor alpha gene polymorphisms and susceptibility to myocardial infarction in a large sample of patients of European descent.

[PMID 16504171OA-icon.png] No role for estrogen receptor 1 gene intron 1 Pvu II and exon 4 C325G polymorphisms in migraine susceptibility.

[PMID 16551651] The association of oestrogen receptor alpha-haplotypes with cardiovascular risk factors in the British Women's Heart and Health Study.

[PMID 16949384] Endogenous estradiol and its association with estrogen receptor gene polymorphisms.

[PMID 16949387] Menstrual cycle markers of ovarian aging and sex steroid hormone genotypes.

[PMID 16949390] Sex steroid hormone polymorphisms, high-density lipoprotein cholesterol, and apolipoprotein A-1 from the Study of Women's Health Across the Nation (SWAN).

[PMID 16949392] The association of bone mineral density with estrogen receptor gene polymorphisms.

[PMID 16949394] Cognitive functioning and sex steroid hormone gene polymorphisms in women at midlife.

[PMID 17105837] Estrogen receptor alpha regulates area-adjusted bone mineral content in late pubertal girls.

[PMID 17268813] Estrogen receptor alpha haplotypes and breast cancer risk in older Caucasian women.

[PMID 17405848] Effect of an estrogen receptor-alpha intron 4 polymorphism on fat mass in 11-year-old children.

[PMID 17409042] Effects of the interaction between lean tissue mass and estrogen receptor alpha gene polymorphism on bone mineral density in middle-aged and elderly Japanese.

[PMID 17903296OA-icon.png] Genome-wide association with bone mass and geometry in the Framingham Heart Study.

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

[PMID 18159244OA-icon.png] Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.

[PMID 18271972OA-icon.png] ESR1 and EGF genetic variation in relation to breast cancer risk and survival.

[PMID 18285546OA-icon.png] A PAI-1 (SERPINE1) polymorphism predicts osteonecrosis in children with acute lymphoblastic leukemia: a report from the Children's Oncology Group.

[PMID 18305958OA-icon.png] Comprehensive evaluation of the estrogen receptor alpha gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population.

[PMID 18350145OA-icon.png] Association of the estrogen receptor 1 (ESR1) gene with body height in adult males from two Swedish population cohorts.

[PMID 18385916] Estrogen receptor alpha polymorphism is associated with pelvic organ prolapse risk.

[PMID 18408366OA-icon.png] Estrogen receptor-alpha variants increase risk of Alzheimer's disease in women with Down syndrome.

[PMID 18445666OA-icon.png] Variation in estrogen-related genes associated with cardiovascular phenotypes and circulating estradiol, testosterone, and dehydroepiandrosterone sulfate levels.

[PMID 18450649OA-icon.png] ESR1 polymorphism is associated with plasma lipid and apolipoprotein levels in Caucasians of the Rochester Family Heart Study.

[PMID 18579753OA-icon.png] Vascular actions of estrogens: functional implications.

[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 18619437] MUC1 and estrogen receptor alpha gene polymorphisms in dry eye patients.

[PMID 18728166OA-icon.png] Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche.

[PMID 18787887OA-icon.png] Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.

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

[PMID 18990228OA-icon.png] Estrogen receptor alpha gene polymorphism and endometrial cancer risk--a case-control study.

[PMID 19080622] [Is calmodulin 1 gene/estrogen receptor-alpha gene polymorphisms correlated with double curve pattern of adolescent idiopathic scoliosis?].

[PMID 19126777OA-icon.png] Association of ESR1 gene tagging SNPs with breast cancer risk.

[PMID 19194457OA-icon.png] Association between arterial stiffness and variations in oestrogen-related genes.

[PMID 19200973] Alleles and haplotypes of the estrogen receptor alpha gene are associated with an increased risk of spontaneous abortion.

[PMID 19219042OA-icon.png] Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.

[PMID 19319135OA-icon.png] Common genetic variability in ESR1 and EGF in relation to endometrial cancer risk and survival.

[PMID 19375130OA-icon.png] Estrogen receptor 1 gene polymorphisms and decreased risk of obesity in women.

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

[PMID 19578917] Association of ER-alpha gene polymorphism with metabolic phenotypes in Chinese Hans.

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

[PMID 19760036] Potentially functional polymorphisms in ESR1 and breast cancer risk: a meta-analysis.

[PMID 19793653] Oestrogen receptor alpha gene intronic polymorphisms and autoimmune myasthenia gravis in Caucasian women.

[PMID 19884274OA-icon.png] The relationship of estrogen receptor-alpha and -beta genes with osteoarthritis of the hand.

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

[PMID 19934104OA-icon.png] Radiographic severity of knee osteoarthritis is conditional on interleukin 1 receptor antagonist gene variations.

[PMID 20015871OA-icon.png] Pharmacogenetic risk factors for altered bone mineral density and body composition in pediatric acute lymphoblastic leukemia.

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

[PMID 20237151] Field synopsis and synthesis of genetic association studies in osteoarthritis: the CUMAGAS-OSTEO information system.

[PMID 20417295] Common variations in estrogen-related genes are associated with severe large-joint osteoarthritis: a multicenter genetic and functional study.

[PMID 20732949OA-icon.png] Gender-specific reduction of estrogen-sensitive small RNA, miR-30b, in subjects with schizophrenia.

[PMID 20846920OA-icon.png] Selected estrogen receptor 1 and androgen receptor gene polymorphisms in relation to risk of breast cancer and fibrocystic breast conditions among Chinese women.

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

[PMID 21106711OA-icon.png] 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 21262040OA-icon.png] Reported early family environment covaries with menarcheal age as a function of polymorphic variation in estrogen receptor-alpha.

[PMID 21300759] EGFR L858R mutation and polymorphisms of genes related to estrogen biosynthesis and metabolism in never-smoking female lung adenocarcinoma patients.

[PMID 21570196] Estrogen receptor gene variants are associated with anxiety disorders in older women.

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

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

[PMID 21837769] A cis-acting regulatory variation of the estrogen receptor alpha (ESR1) gene is associated with hepatitis B virus-related liver cirrhosis.

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

[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 22311020] Evaluation of ERalpha and VDR gene polymorphisms in relation to bone mineral density in Turkish postmenopausal women.

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

[PMID 22328322] Interaction between ESRalpha polymorphisms and environmental factors in osteoporosis.


[PMID 22995348] Genomic Diversity and Affinities in population groups of North West India: An analysis of Alu insertion and a single nucleotide polymorphism


GET Evidence
rs2234693
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.421875
summary



[PMID 23098495] Variants on ESR1 and their Association with Prostate Cancer Risk: A Meta-analysis


[PMID 23450473] [Association between ESR1 gene polymorphisms and haplotypes with schizophrenia]


[PMID 23471591OA-icon.png] Meta-analysis of the association of the rs2234693 and rs9340799 polymorphisms of estrogen receptor alpha gene with coronary heart disease risk in chinese han population


[PMID 23491264] Estrogen receptor polymorphisms and incident dementia: The prospective 3C study


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


[PMID 24427778] ESR1 rs9340799 is associated with endometriosis-related infertility and in vitro fertilization failure


[PMID 24430361] Genetic polymorphisms of ESR1, ESR2, CYP17A1, and CYP19A1 and the risk of breast cancer: a case control study from North India


[PMID 24482673] Association between Estrogen Receptor α Gene (ESR1) PvuII (C/T) and XbaI (A/G) Polymorphisms and Hip Fracture Risk: Evidence from a Meta-Analysis


[PMID 23245353] Association of estrogen receptor alpha gene polymorphisms with autonomic modulation of heart rate in users and nonusers of oral contraceptives


[PMID 22633539] Selected polymorphisms in sex hormone-related genes, circulating sex hormones and risk of endometrial cancer.


[PMID 22807154] Susceptibility genes for osteoporotic fracture in postmenopausal Chinese women.


[PMID 22901010] Polymorphisms of estrogen receptors and risk of depression: therapeutic implications.


[PMID 23072920] Genetic markers of bone and joint health and physical capability in older adults: the HALCyon programme.


[PMID 23352976] Polymorphisms in genes encoding aquaporins 4 and 5 and estrogen receptor alpha in patients with Meniere's disease and sudden sensorineural hearing loss.