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rs1271572

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) normal
(G;T) 1.65x increased risk only in men for myocardial infarction
(T;T) 1.65x increased risk only in men for myocardial infarction; 1.8x increased risk in females for ovarian cancer
ReferenceGRCh38 38.1/141
Chromosome14
Position64295199
GeneESR2
is asnp
is mentioned by
dbSNPrs1271572
ebirs1271572
HLIrs1271572
Exacrs1271572
Varsomers1271572
Maprs1271572
PheGenIrs1271572
hapmaprs1271572
1000 genomesrs1271572
hgdprs1271572
ensemblrs1271572
gopubmedrs1271572
geneviewrs1271572
scholarrs1271572
googlers1271572
pharmgkbrs1271572
gwascentralrs1271572
openSNPrs1271572
23andMers1271572
23andMe allrs1271572
SNP Nexus

SNPshotrs1271572
SNPdbers1271572
MSV3drs1271572
GWAS Ctlgrs1271572
GMAF0.455
Max Magnitude
? (G;G) (G;T) (T;T) 28
[PMID 18487282] The rs1271572(T) allele was significantly more common in patients who developed MI (P < 0.001), based on a study of 710 Spanish patients. This was statistically significant only in men [odds ratio 1.65, CI: 1.18-2.30; p = 0.003).

[PMID 18704709OA-icon.png] Based on a study of 313 female patients, rs1271572(T;T) homozygotes were at increased risk for epithelial ovarian cancer. The odds ratio was 1.79, CI:1.15-2.79, p global = 0.01.


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


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



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


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

[PMID 16083630] [Association between single-nucleotide polymorphisms in estrogen receptor beta gene and risk of prostate cancer].

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

[PMID 18304720] Estrogen receptor beta gene haplotype is associated with pelvic organ prolapse.

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

[PMID 18627768] Pharmacogenetics of hormone replacement therapy for climacteric symptoms.

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

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


[PMID 22970307OA-icon.png] Potential Role of Estrogen Receptor Beta as a Tumor Suppressor of Epithelial Ovarian Cancer


GET Evidence
rs1271572
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.357143
summary



[PMID 23711151OA-icon.png] Significance of rs1271572 in the estrogen receptor beta gene promoter and its correlation with breast cancer in a southwestern Chinese population