Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		A 0.820 GeneticVariation GWASCAT Identification of non-HLA genes associated with development of islet autoimmunity and type 1 diabetes in the prospective TEDDY cohort. 29310926

2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		T 0.820 GeneticVariation GWASCAT Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 24262325

2014
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		T 0.820 GeneticVariation GWASCAT Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393

2011
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.820 GeneticVariation GWASCAT Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480

2009
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		T 0.810 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778

2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		T 0.810 GeneticVariation GWASCAT A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. 26343387

2015
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		C 0.810 GeneticVariation GWASCAT Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. 22057235

2011
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: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.800 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.800 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		T 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422

2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422

2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		A 0.800 GeneticVariation GWASCAT Identification of non-HLA genes associated with development of islet autoimmunity and type 1 diabetes in the prospective TEDDY cohort. 29310926

2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		C 0.800 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		C 0.800 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		C 0.800 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		C 0.800 GeneticVariation GWASCAT A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. 24026423

2014
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0201910
Disease: Beta-2-microglobulin measurement
Beta-2-microglobulin measurement 		C 0.800 GeneticVariation GWASCAT The other locus of B2M was on chromosome 12 (rs3184504 at SH2B3, beta = 0.02, p value = 3.1 × 10(-8)), which was previously implicated as an eGFR locus. 23417110

2013
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		T 0.800 GeneticVariation GWASCAT Novel associations for hypothyroidism include known autoimmune risk loci. 22493691

2012
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		T 0.800 GeneticVariation GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419

2011
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		T 0.800 GeneticVariation GWASCAT Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. 19198610

2009
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: 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