Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4618210
rs4618210
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
G 0.800 GeneticVariation GWASCAT Our study identified two novel susceptibility loci for MI: PLCL2 on chromosome 3p24.3 (rs4618210:A>G, P = 2.60 × 10(-9), odds ratio (OR) = 0.91) and AP3D1-DOT1L-SF3A2 on chromosome 19p13.3 (rs3803915:A>C, P = 3.84 × 10(-9), OR = 0.89). 24916648

2015

dbSNP: rs4452313
rs4452313
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
A 0.800 GeneticVariation GWASCAT Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. 30423114

2019

dbSNP: rs4452313
rs4452313
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
T 0.800 GeneticVariation GWASCAT Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342

2014

dbSNP: rs1372072
rs1372072
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
A 0.800 GeneticVariation GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269

2015

dbSNP: rs1372072
rs1372072
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
A 0.800 GeneticVariation GWASCAT Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635

2011

dbSNP: rs9858071
rs9858071
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
C 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085

2018

dbSNP: rs9858071
rs9858071
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
C 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085

2018

dbSNP: rs9852648
rs9852648
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs9846711
rs9846711
CUI: C0021704
Disease: Intelligence
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: rs9846711
rs9846711
CUI: C0036341
Disease: Schizophrenia
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: rs9821630
rs9821630
Finding of Mean Corpuscular Hemoglobin
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs9821630
rs9821630
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs9821630
rs9821630
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
A 0.700 GeneticVariation GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375

2017

dbSNP: rs9813513
rs9813513
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: rs79638618
rs79638618
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018

dbSNP: rs7653834
rs7653834
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117

2018

dbSNP: rs7653834
rs7653834
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117

2018

dbSNP: rs7613595
rs7613595
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs7613595
rs7613595
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs75885714
rs75885714
CUI: C2697758
Disease: Interleukin 10 Measurement
Interleukin 10 Measurement
C 0.700 GeneticVariation GWASCAT Cross-genetic determination of maternal and neonatal immune mediators during pregnancy. 30134952

2018

dbSNP: rs75885714
rs75885714
Soluble Interleukin 6 Receptor Measurement
C 0.700 GeneticVariation GWASCAT Cross-genetic determination of maternal and neonatal immune mediators during pregnancy. 30134952

2018

dbSNP: rs75885714
rs75885714
CUI: C2825877
Disease: Interferon Gamma Measurement
Interferon Gamma Measurement
C 0.700 GeneticVariation GWASCAT Cross-genetic determination of maternal and neonatal immune mediators during pregnancy. 30134952

2018

dbSNP: rs75885714
rs75885714
Chemokine (C-C Motif) Ligand 19 Measurement
C 0.700 GeneticVariation GWASCAT Cross-genetic determination of maternal and neonatal immune mediators during pregnancy. 30134952

2018

dbSNP: rs75885714
rs75885714
CUI: C0202202
Disease: Protein measurement
Protein measurement
C 0.700 GeneticVariation GWASCAT Cross-genetic determination of maternal and neonatal immune mediators during pregnancy. 30134952

2018

dbSNP: rs75885714
rs75885714
CUI: C3815172
Disease: Interleukin 1 Beta Measurement
Interleukin 1 Beta Measurement
C 0.700 GeneticVariation GWASCAT Cross-genetic determination of maternal and neonatal immune mediators during pregnancy. 30134952

2018