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rs2228480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs2228480(A;A)
Make rs2228480(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position152098960
GeneESR1
is asnp
is mentioned by
dbSNPrs2228480
ebirs2228480
HLIrs2228480
Exacrs2228480
Varsomers2228480
Maprs2228480
PheGenIrs2228480
hapmaprs2228480
1000 genomesrs2228480
hgdprs2228480
ensemblrs2228480
gopubmedrs2228480
geneviewrs2228480
scholarrs2228480
googlers2228480
pharmgkbrs2228480
gwascentralrs2228480
openSNPrs2228480
23andMers2228480
23andMe allrs2228480
SNP Nexus

SNPshotrs2228480
SNPdbers2228480
MSV3drs2228480
GWAS Ctlgrs2228480
GMAF0.1795
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 18424448OA-icon.png] haplotype less common in schizophrenia rs2273206(T), rs2273207(G), rs2228480(G).


[PMID 19519176] Association of polymorphisms in estrogen and thyroid hormone receptors with thyroid cancer risk


[PMID 19860576] Association of EGFR and HER2 Polymorphisms with Risk and Clinical Features of Thyroid Cancer

[PMID 19926619] Association of Estrogen Receptor {alpha} Genotypes/Haplotypes With Carotid Intima-Media Thickness in Taiwanese Women


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


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


[PMID 20128071] Association of estrogen receptor-alpha single-nucleotide polymorphism (codon 594 G-->A) and thai patients affected by knee osteoarthritis


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



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


[PMID 15113403OA-icon.png] Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.


[PMID 15157284OA-icon.png] Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.


[PMID 15268889] Test of linkage and/or association between the estrogen receptor alpha gene with bone mineral density in Caucasian nuclear families.


[PMID 17609999] Association of progesterone receptor with migraine-associated vertigo.


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


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


[PMID 18636479OA-icon.png] Common genetic influences underlie comorbidity of migraine and endometriosis.


[PMID 19094228OA-icon.png] The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer.


[PMID 19175383] Lack of association of hormone receptor polymorphisms with migraine.


[PMID 19636371OA-icon.png] Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, EGFR and ErbB-2 protein expression, and breast cancer risk in Tunisia.


[PMID 19693267OA-icon.png] Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.


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


[PMID 19941161] Combined genetic effect of CDK7 and ESR1 polymorphisms on breast cancer.


[PMID 20729390OA-icon.png] Serum estrogen and tumor-positive estrogen receptor-alpha are strong prognostic classifiers of non-small-cell lung cancer survival in both men and women.


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


GET Evidence
rs2228480
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.170013
summary



[PMID 25116933OA-icon.png] Evaluation of functional genetic variants at 6q25.1 and risk of breast cancer in a Chinese population


[PMID 26550281OA-icon.png] Genetic effects of common polymorphisms in estrogen receptor alpha gene on osteoarthritis: a meta-analysis