Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1372072
rs1372072
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis
A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635

2011

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: 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: 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: rs4685408
rs4685408
CUI: C0033860
Disease: Psoriasis
Psoriasis
G 0.700 GeneticVariation GWASCAT Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci. 25939698

2015

dbSNP: rs4685408
rs4685408
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris
G 0.700 GeneticVariation GWASCAT Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture. 26626624

2015

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: 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: rs73146904
rs73146904
Finding of Mean Corpuscular Hemoglobin
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs73146904
rs73146904
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs73146904
rs73146904
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs200726463
rs200726463
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
CAG 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: rs748832
rs748832
CUI: C0021704
Disease: Intelligence
Intelligence
0.700 GeneticVariation GWASCAT Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. 29186694

2017

dbSNP: rs6779302
rs6779302
CUI: C0021704
Disease: Intelligence
Intelligence
T 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence. 28530673

2017

dbSNP: rs2060597
rs2060597
Finding of Mean Corpuscular Hemoglobin
T 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: 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: 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