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: rs1256031
rs1256031
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean
0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs1256033
rs1256033
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean
0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs1256061
rs1256061
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean
0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs4365213
rs4365213
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean
0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs745516407
rs745516407
Entrez Id: 2100;23224
Gene Symbol: ESR2;SYNE2
ESR2;SYNE2
CUI: C2751805
Disease:
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
T 0.700 GeneticVariation CLINVAR
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: C0006142
Disease:
Malignant neoplasm of breast
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: C0006142
Disease:
Malignant neoplasm of breast
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: C0006142
Disease:
Malignant neoplasm of breast
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: C0006142
Disease:
Malignant neoplasm of breast
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: 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: rs1271572
rs1271572
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C1140680
Disease:
Malignant neoplasm of ovary
0.030 GeneticVariation BEFREE The recessive model of ESR2 rs1271572 and the dominant model of ESR2 rs3020450 might be susceptible factors for ovarian cancer. 29535531 2018
dbSNP: rs1271572
rs1271572
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial
0.030 GeneticVariation BEFREE The recessive model of ESR2 rs1271572 and the dominant model of ESR2 rs3020450 might be susceptible factors for ovarian cancer. 29535531 2018
dbSNP: rs1256049
rs1256049
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.030 GeneticVariation BEFREE When patients were grouped according to smoking status, the ESR2 rs1256049 AA genotype (OR = 0.48, 95 % CI 0.25-0.95, P < 0.05) and ESR2 rs4986938 AG + AA genotype (OR = 0.64, 95 % CI 0.41-1.00, P < 0.05) showed significantly decreased PCa risk in the ever-smoker group. 26251204 2015
dbSNP: rs1256049
rs1256049
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0600139
Disease:
Prostate carcinoma
0.030 GeneticVariation BEFREE When patients were grouped according to smoking status, the ESR2 rs1256049 AA genotype (OR = 0.48, 95 % CI 0.25-0.95, P < 0.05) and ESR2 rs4986938 AG + AA genotype (OR = 0.64, 95 % CI 0.41-1.00, P < 0.05) showed significantly decreased PCa risk in the ever-smoker group. 26251204 2015
dbSNP: rs4986938
rs4986938
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.030 GeneticVariation BEFREE ESR2 rs4986938 AG and AG + AA genotypes were associated with significantly decreased risk of PCa (AG: OR = 0.68, 95 % CI 0.47-0.97, P < 0.05 and AG + AA: OR = 0.67, 95 % CI 0.47-0.94, P < 0.05). 26251204 2015
dbSNP: rs4986938
rs4986938
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0600139
Disease:
Prostate carcinoma
0.030 GeneticVariation BEFREE ESR2 rs4986938 AG and AG + AA genotypes were associated with significantly decreased risk of PCa (AG: OR = 0.68, 95 % CI 0.47-0.97, P < 0.05 and AG + AA: OR = 0.67, 95 % CI 0.47-0.94, P < 0.05). 26251204 2015
dbSNP: rs1256049
rs1256049
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0600139
Disease:
Prostate carcinoma
0.030 GeneticVariation BEFREE In conclusion, this meta-analysis indicated that ESR1 rs9340799 polymorphism was associated with prostate cancer risk in overall populations, Caucasians and Africans, while ESR2 rs1256049 polymorphism was associated with prostate cancer risk in Caucasians. 24859835 2014
dbSNP: rs1256049
rs1256049
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.030 GeneticVariation BEFREE In conclusion, this meta-analysis indicated that ESR1 rs9340799 polymorphism was associated with prostate cancer risk in overall populations, Caucasians and Africans, while ESR2 rs1256049 polymorphism was associated with prostate cancer risk in Caucasians. 24859835 2014
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: C0006142
Disease:
Malignant neoplasm of breast
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: rs1256049
rs1256049
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0600139
Disease:
Prostate carcinoma
0.030 GeneticVariation BEFREE 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. 22228197 2012
dbSNP: rs1256049
rs1256049
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.030 GeneticVariation BEFREE 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. 22228197 2012