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: rs58262369
rs58262369
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0600139
Disease:
Prostate carcinoma
0.710 GeneticVariation BEFREE We identify two independent susceptibility loci for prostate cancer at 11p15.4 (rs12791447, P=3.59 × 10(-8); PPFIBP2) and 14q23.2 (rs58262369, P=6.05 × 10(-10); ESR2). 26443449 2015
dbSNP: rs58262369
rs58262369
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0600139
Disease:
Prostate carcinoma
T 0.710 GeneticVariation GWASCAT We identify two independent susceptibility loci for prostate cancer at 11p15.4 (rs12791447, P=3.59 × 10(-8); PPFIBP2) and 14q23.2 (rs58262369, P=6.05 × 10(-10); ESR2). 26443449 2015
dbSNP: rs10459452
rs10459452
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1152578
rs1152578
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C1269683
Disease:
Major Depressive Disorder
C 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions. 30718901 2019
dbSNP: rs11850375
rs11850375
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0428472
Disease:
Serum HDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs11850375
rs11850375
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0392885
Disease:
High density lipoprotein measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs12435857
rs12435857
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: rs1256030
rs1256030
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: 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: C0518015
Disease:
Hemoglobin measurement
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1256061
rs1256061
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0014772
Disease:
Red Blood Cell Count measurement
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1256061
rs1256061
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0018935
Disease:
Hematocrit procedure
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1256061
rs1256061
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: rs7146434
rs7146434
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0021704
Disease:
Intelligence
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
dbSNP: rs7146434
rs7146434
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0036341
Disease:
Schizophrenia
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
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 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 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 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 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: 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: 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