Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs284489
rs284489
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
0.800 GeneticVariation GWASCAT Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. 22570617

2012

dbSNP: rs6993770
rs6993770
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584

2019

dbSNP: rs6993770
rs6993770
Vascular Endothelial Growth Factor Measurement
A 0.800 GeneticVariation GWASCAT Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies. 26910538

2016

dbSNP: rs6993770
rs6993770
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
T 0.800 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs6993770
rs6993770
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
A 0.800 GeneticVariation GWASCAT Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans. 26805783

2016

dbSNP: rs6993770
rs6993770
Vascular Endothelial Growth Factor Measurement
T 0.800 GeneticVariation GWASCAT Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels. 21757650

2011

dbSNP: rs6993770
rs6993770
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
A 0.800 GeneticVariation GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419

2011

dbSNP: rs9297357
rs9297357
Attention deficit hyperactivity disorder
T 0.800 GeneticVariation GWASCAT Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. 23453885

2013

dbSNP: rs10093110
rs10093110
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778

2018

dbSNP: rs11774829
rs11774829
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs11774829
rs11774829
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs11774829
rs11774829
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs11774829
rs11774829
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
A 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418

2019

dbSNP: rs12546444
rs12546444
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
A 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683

2017

dbSNP: rs12678719
rs12678719
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval
G 0.700 GeneticVariation GWASCAT PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity. 30046033

2018

dbSNP: rs1350723
rs1350723
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs1375961
rs1375961
CUI: C0596887
Disease: mathematical ability
mathematical ability
T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396

2018

dbSNP: rs1383592
rs1383592
CUI: C1305855
Disease: Body mass index
Body mass index
A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722

2019

dbSNP: rs1460583
rs1460583
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
C 0.700 GeneticVariation GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260

2019

dbSNP: rs16872085
rs16872085
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death
0.700 GeneticVariation GWASCAT GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. 21658281

2011

dbSNP: rs17210179
rs17210179
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs2342781
rs2342781
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
C 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778

2018

dbSNP: rs2343592
rs2343592
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018

dbSNP: rs28416651
rs28416651
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778

2018

dbSNP: rs284491
rs284491
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma
T 0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. 26752265

2016