ESR2, estrogen receptor 2, 2100

N. diseases: 528; N. variants: 56
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1256049
rs1256049
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0678222
Disease:
Breast Carcinoma
0.040 GeneticVariation BEFREE Patients carrying rs3798577 genotypes had higher risk, while rs1256049 genotype carriers had reduced risk of breast cancer. 29414691 2018
dbSNP: rs1256049
rs1256049
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0678222
Disease:
Breast Carcinoma
0.040 GeneticVariation BEFREE The ESR2 rs4986938 and rs1256049 polymorphisms were described to present association with breast cancer, rheumatoid arthritis, and bone mineral density, however the association with IS has not been evaluated. 25341980 2014
dbSNP: rs1256049
rs1256049
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0678222
Disease:
Breast Carcinoma
0.040 GeneticVariation BEFREE For rs4986938, the women harboring variant allele seemed to be associated with a decreased risk either in the dominant model [pooled OR = 0.944, 95% confidence interval (95% CI) 0.897-0.993, fixed-effects] or in the co-dominant model (AG vs. GG) (OR = 0.944, 95% CI 0.895-0.997, fixed-effects). rs12</span>56049 was not associated with breast cancer risk in any model. 20390341 2011
dbSNP: rs1256049
rs1256049
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0678222
Disease:
Breast Carcinoma
0.040 GeneticVariation BEFREE We investigated three common ESR2 polymorphisms, rs1256049 (G1082A), rs4986938 (G1730A) and rs928554 (Cx+56 A-->G) for association to breast cancer risk. 16261413 2005
dbSNP: rs4986938
rs4986938
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE The ESR2 rs4986938 and rs1256049 polymorphisms were described to present association with breast cancer, rheumatoid arthritis, and bone mineral density, however the association with IS has not been evaluated. 25341980 2014
dbSNP: rs4986938
rs4986938
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE In summary, t</span>he present systematic review suggests that SNP rs4986938 as well as haplotypes in the ESR2 gene might be associated with breast cancer. 20390341 2011
dbSNP: rs4986938
rs4986938
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE We investigated three common ESR2 polymorphisms, rs1256049 (G1082A), rs4986938 (G1730A) and rs928554 (Cx+56 A-->G) for association to breast cancer risk. 16261413 2005
dbSNP: rs3020449
rs3020449
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Our study suggests that polymorphisms rs2881766 and rs3020449 in estrogen receptor genes were associated with BC susceptibility as well as clinical features in Chinese women. 30636932 2019
dbSNP: rs2987983
rs2987983
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2234693) and ESR2 (rs2987983); estrogen biosynthesis enzymes, CYP17A1 (rs743572); and aromatase, CYP19A1 (rs700519) with breast cancer risk. 24430361 2014
dbSNP: rs1271572
rs1271572
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE TT genotype of rs1271572 is associated with increased risk for breast cancer in Chinese women and is associated with unfavored prognosis in Chinese breast cancer patients. 23711151 2013
dbSNP: rs1887994
rs1887994
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Genotype frequencies of five SNPs (rs3020449, rs3020450, rs2987983, rs1271572 and rs1887994) in the promoter region of the ERβ gene in 873 women with breast cancer, 645 women with fibroadenoma and 700 healthy women were determined using an allele-specific tetra-primer polymerase chain reaction (PCR). 23711151 2013
dbSNP: rs1256054
rs1256054
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Our data suggest that ER-beta polymorphism in exon 7 codon 392 (C1176G) is correlated with various aspects of breast cancer and lymph node metastasis in our group of patients. 20604969 2010
dbSNP: rs928554
rs928554
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE We investigated three common ESR2 polymorphisms, rs1256049 (G1082A), rs4986938 (G1730A) and rs928554 (Cx+56 A-->G) for association to breast cancer risk. 16261413 2005