rs2228480

plus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs2228480(A;A)

Make rs2228480(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

152098960

Gene

ESR1

is a	snp
is	mentioned by
dbSNP	rs2228480
dbSNP (classic)	rs2228480
ClinGen	rs2228480
ebi	rs2228480
HLI	rs2228480
Exac	rs2228480
Gnomad	rs2228480
Varsome	rs2228480
LitVar	rs2228480
Map	rs2228480
PheGenI	rs2228480
Biobank	rs2228480
1000 genomes	rs2228480
hgdp	rs2228480
ensembl	rs2228480
geneview	rs2228480
scholar	rs2228480
google	rs2228480
pharmgkb	rs2228480
gwascentral	rs2228480
openSNP	rs2228480
23andMe	rs2228480
SNPshot	rs2228480
SNPdbe	rs2228480
MSV3d	rs2228480
GWAS Ctlg	rs2228480

GMAF

0.1795

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

[PMID 18424448 ] 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 19654868 ] 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 20172949 ] 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 22511967 ] Potential Role of Aromatase over Estrogen Receptor Gene Polymorphisms in Migraine Susceptibility: A Case Control Study from North India

[PMID 15113403 ] 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 15157284 ] 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 18636479 ] Common genetic influences underlie comorbidity of migraine and endometriosis.

[PMID 19094228 ] 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 19636371 ] Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, EGFR and ErbB-2 protein expression, and breast cancer risk in Tunisia.

[PMID 19693267 ] 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 20729390 ] 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.

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

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

[PMID 28707126] Estrogen receptor alpha gene (ESR1) polymorphism and its interaction with smoking and drinking contribute to susceptibility of systemic lupus erythematosus.

[PMID 33281037] Impact of ESR1 Polymorphisms on Risk of Breast Cancer in the Chinese Han Population.