Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116502295
rs116502295
Adverse effects, not elsewhere classified
C 0.700 GeneticVariation GWASCAT Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records. 30420678

2019

dbSNP: rs11221332
rs11221332
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs11221322
rs11221322
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs8705
rs8705
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs61907765
rs61907765
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
T 0.800 GeneticVariation GWASCAT Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. 22057235

2011

dbSNP: rs11221332
rs11221332
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
A 0.800 GeneticVariation GWASCAT Multiple common variants for celiac disease influencing immune gene expression. 20190752

2010

dbSNP: rs4128561
rs4128561
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.700 GeneticVariation GWASCAT Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci. 25920553

2016

dbSNP: rs11221332
rs11221332
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs11221322
rs11221322
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs11221332
rs11221332
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs11221322
rs11221322
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs67232546
rs67232546
Diabetes Mellitus, Non-Insulin-Dependent
T 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes. 30054458

2018

dbSNP: rs11819995
rs11819995
Diabetes Mellitus, Non-Insulin-Dependent
T 0.700 GeneticVariation GWASCAT Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926

2019

dbSNP: rs8705
rs8705
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs11221357
rs11221357
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs7924522
rs7924522
CUI: C0017601
Disease: Glaucoma
Glaucoma
A 0.700 GeneticVariation GWASCAT Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. 30054594

2018

dbSNP: rs8705
rs8705
CUI: C0857490
Disease: Granulocyte count
Granulocyte count
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs11221332
rs11221332
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.700 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908

2017

dbSNP: rs1128334
rs1128334
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
A 0.810 GeneticVariation GWASCAT By a genome-wide association study (320 patients and 1,500 controls) and subsequent replication altogether involving a total of 3,300 Asian SLE patients from Hong Kong, Mainland China, and Thailand, as well as 4,200 ethnically and geographically matched controls, genetic variants in ETS1 and WDFY4 were found to be associated with SLE (ETS1: rs1128334, P = 2.33x10(-11), OR = 1.29; WDFY4: rs7097397, P = 8.15x10(-12), OR = 1.30). 20169177

2010

dbSNP: rs1128334
rs1128334
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.810 GeneticVariation GWASCAT Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans. 26663301

2016

dbSNP: rs4937334
rs4937334
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte 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: rs34834119
rs34834119
CUI: C0200637
Disease: Monocyte count procedure
Monocyte 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: rs34834119
rs34834119
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs3809006
rs3809006
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
G 0.700 GeneticVariation GWASCAT Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602

2013

dbSNP: rs8705
rs8705
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016