Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10774625
rs10774625
ATXN2
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		A 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528

2019
dbSNP: rs10774625
rs10774625
ATXN2
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. 27399966

2016
dbSNP: rs10774625
rs10774625
ATXN2
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		G 0.700 GeneticVariation GWASCAT Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies. 31036433

2019
dbSNP: rs10774625
rs10774625
ATXN2
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		A 0.700 GeneticVariation GWASCAT Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. 26502338

2015
dbSNP: rs10774625
rs10774625
ATXN2
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163

2019
dbSNP: rs10774625
rs10774625
ATXN2
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		A 0.700 GeneticVariation GWASCAT Association analyses based on false discovery rate implicate new loci for coronary artery disease. 28714975

2017
dbSNP: rs10774625
rs10774625
ATXN2
CUI: C0004096
Disease: Asthma
Asthma 		G 0.700 GeneticVariation GWASCAT Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies. 31036433

2019
dbSNP: rs10774625
rs10774625
ATXN2
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965

2016
dbSNP: rs11065904
rs11065904
ATXN2 ; SH2B3
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163

2019
dbSNP: rs11065961
rs11065961
ATXN2
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs11348701
rs11348701
ATXN2
CUI: C0032181
Disease: Platelet Count measurement
Platelet 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: rs145618127
rs145618127
ATXN2
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
CUI: C0032181
Disease: Platelet Count measurement
Platelet 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: rs2238153
rs2238153
ATXN2
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
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: 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 		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: 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: 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: 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: 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 		T 0.800 GeneticVariation GWASCAT Novel associations for hypothyroidism include known autoimmune risk loci. 22493691

2012