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 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: 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: 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: rs114893614
rs114893614
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs114893614
rs114893614
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs115792481
rs115792481
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018

dbSNP: rs116577908
rs116577908
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs116577908
rs116577908
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs116577908
rs116577908
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs116577908
rs116577908
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

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: rs143759545
rs143759545
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs144614991
rs144614991
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell 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: rs1992381
rs1992381
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

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: 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: rs2278609
rs2278609
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
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: rs2278609
rs2278609
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
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: 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: 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: rs6804663
rs6804663
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
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: rs6804663
rs6804663
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
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