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: rs1152591
rs1152591
Entrez Id: 2100;23224
Gene Symbol: ESR2;SYNE2
ESR2;SYNE2
CUI: C0004238
Disease:
Atrial Fibrillation 		A 0.800 GeneticVariation GWASCAT Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. 28416818 2017
dbSNP: rs1152591
rs1152591
Entrez Id: 2100;23224
Gene Symbol: ESR2;SYNE2
ESR2;SYNE2
CUI: C0004238
Disease:
Atrial Fibrillation 		A 0.800 GeneticVariation GWASCAT Meta-analysis identifies six new susceptibility loci for atrial fibrillation. 22544366 2012
dbSNP: rs1152591
rs1152591
Entrez Id: 2100;23224
Gene Symbol: ESR2;SYNE2
ESR2;SYNE2
CUI: C0004238
Disease:
Atrial Fibrillation 		A 0.800 GeneticVariation GWASDB Meta-analysis identifies six new susceptibility loci for atrial fibrillation. 22544366 2012
dbSNP: rs36215895
rs36215895
Entrez Id: 2100;23224
Gene Symbol: ESR2;SYNE2
ESR2;SYNE2
CUI: C2751805
Disease:
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. 17761684 2007
dbSNP: rs36215895
rs36215895
Entrez Id: 2100;23224
Gene Symbol: ESR2;SYNE2
ESR2;SYNE2
CUI: C2751805
Disease:
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR
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: 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: 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: rs148114281
rs148114281
Entrez Id: 2100;23224
Gene Symbol: ESR2;SYNE2
ESR2;SYNE2
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2772163
rs2772163
Entrez Id: 2100;23224
Gene Symbol: ESR2;SYNE2
ESR2;SYNE2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: rs2738413
rs2738413
Entrez Id: 2100;23224
Gene Symbol: ESR2;SYNE2
ESR2;SYNE2
CUI: C0004238
Disease:
Atrial Fibrillation 		A 0.700 GeneticVariation GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
dbSNP: rs2738413
rs2738413
Entrez Id: 2100;23224
Gene Symbol: ESR2;SYNE2
ESR2;SYNE2
CUI: C0004238
Disease:
Atrial Fibrillation 		A 0.700 GeneticVariation GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
dbSNP: rs915057
rs915057
Entrez Id: 2100;23224
Gene Symbol: ESR2;SYNE2
ESR2;SYNE2
CUI: C1269683
Disease:
Major Depressive Disorder 		G 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. 29700475 2018
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: rs2781377
rs2781377
Entrez Id: 2100;23224
Gene Symbol: ESR2;SYNE2
ESR2;SYNE2
CUI: C0033860
Disease:
Psoriasis 		0.700 GeneticVariation GWASCAT Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis. 25854761 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: 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