Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs653178
rs653178
ATXN2
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		G 0.810 GeneticVariation GWASCAT Multiple common variants for celiac disease influencing immune gene expression. 20190752

2010
dbSNP: rs653178
rs653178
ATXN2
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		G 0.810 GeneticVariation GWASCAT Newly identified genetic risk variants for celiac disease related to the immune response. 18311140

2008
dbSNP: rs653178
rs653178
ATXN2
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		C 0.800 GeneticVariation GWASCAT The SNP rs653178 in the ATXN2-SH2B3 locus was significantly associated with PAD in the discovery cohort (OR = 1.23; P = 5.59 × 10(-5)), in the replication cohort (OR = 1.22; 8.9 × 10(-4)) and in the combined cohort (OR = 1.22; P = 6.46 × 10(-7)). 25009551

2014
dbSNP: rs653178
rs653178
ATXN2
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		C 0.800 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967

2011
dbSNP: rs653178
rs653178
ATXN2
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		C 0.800 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967

2011
dbSNP: rs4766578
rs4766578
ATXN2
CUI: C0042900
Disease: Vitiligo
Vitiligo 		T 0.800 GeneticVariation GWASCAT Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. 22561518

2012
dbSNP: rs653178
rs653178
ATXN2
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		C 0.710 GeneticVariation GWASCAT Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. 25751624

2015
dbSNP: rs7137828
rs7137828
ATXN2
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		C 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761

2013
dbSNP: rs7137828
rs7137828
ATXN2
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962

2018
dbSNP: rs7137828
rs7137828
ATXN2
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962

2018
dbSNP: rs7137828
rs7137828
ATXN2
CUI: C1858558
Disease: Rheumatoid Arthritis, Systemic Juvenile
Rheumatoid Arthritis, Systemic Juvenile 		C 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761

2013
dbSNP: rs7137828
rs7137828
ATXN2
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		C 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878

2017
dbSNP: rs7137828
rs7137828
ATXN2
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		T 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: rs7137828
rs7137828
ATXN2
CUI: C2931171
Disease: Juvenile pauciarticular chronic arthritis
Juvenile pauciarticular chronic arthritis 		C 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761

2013
dbSNP: rs7137828
rs7137828
ATXN2
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs7137828
rs7137828
ATXN2
CUI: C1305849
Disease: Diastolic blood pressure measurement
Diastolic blood pressure measurement 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962

2018
dbSNP: rs7137828
rs7137828
ATXN2
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		T 0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. 26752265

2016
dbSNP: rs7137828
rs7137828
ATXN2
CUI: C3898105
Disease: Oligoarticular Juvenile Idiopathic Arthritis
Oligoarticular Juvenile Idiopathic Arthritis 		C 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761

2013
dbSNP: rs7137828
rs7137828
ATXN2
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		T 0.700 GeneticVariation GWASCAT Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. 29083406

2017
dbSNP: rs7137828
rs7137828
ATXN2
CUI: C1384600
Disease: Systemic onset juvenile chronic arthritis
Systemic onset juvenile chronic arthritis 		C 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761

2013
dbSNP: rs7137828
rs7137828
ATXN2
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962

2018
dbSNP: rs7137828
rs7137828
ATXN2
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		C 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878

2017
dbSNP: rs7137828
rs7137828
ATXN2
CUI: C3890205
Disease: Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative 		C 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761

2013
dbSNP: rs653178
rs653178
ATXN2
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs653178
rs653178
ATXN2
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. 26390057

2015