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: rs12897637
rs12897637
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12897637
rs12897637
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		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: rs10873172
rs10873172
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
CUI: C0018498
Disease:
Hair Color 		G 0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs112329286
rs112329286
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
CUI: C1561643
Disease:
Chronic Kidney Diseases 		TTTTA 0.700 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
dbSNP: rs112329286
rs112329286
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
CUI: C0022661
Disease:
Kidney Failure, Chronic 		TTTTA 0.700 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
dbSNP: rs2357176
rs2357176
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
CUI: C0153536
Disease:
Malignant melanoma of skin of lower limb 		0.700 GeneticVariation GWASCAT Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways. 30429480 2018
dbSNP: rs2357176
rs2357176
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
CUI: C0151779
Disease:
Cutaneous Melanoma 		0.700 GeneticVariation GWASCAT Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways. 30429480 2018
dbSNP: rs2357176
rs2357176
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
CUI: C0153535
Disease:
Malignant melanoma of skin of upper limb 		0.700 GeneticVariation GWASCAT Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways. 30429480 2018
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: rs7157785
rs7157785
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
CUI: C1445957
Disease:
Serum total cholesterol measurement 		T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs7160525
rs7160525
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
CUI: C0022661
Disease:
Kidney Failure, Chronic 		A 0.700 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
dbSNP: rs7160525
rs7160525
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
CUI: C1561643
Disease:
Chronic Kidney Diseases 		A 0.700 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
dbSNP: rs8008070
rs8008070
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
CUI: C0022661
Disease:
Kidney Failure, Chronic 		T 0.700 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
dbSNP: rs8008070
rs8008070
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
CUI: C1561643
Disease:
Chronic Kidney Diseases 		T 0.700 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 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: rs112329286
rs112329286
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		TTTTA 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs112329286
rs112329286
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
CUI: C0427460
Disease:
Red cell distribution width determination 		TTTTA 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017