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: 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: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		C 0.730 GeneticVariation GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119

2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		C 0.730 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191

2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		C 0.730 GeneticVariation GWASCAT A combined analysis revealed one genome-wide significant polymorphism, rs3184504, on chromosome 12q24 (OR = 1.10, P = 7.23 × 10(-9)) with shared effects on CRC and EC risk. 26621817

2015
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		C 0.730 GeneticVariation GWASCAT Genome-wide association study of colorectal cancer identifies six new susceptibility loci. 26151821

2015
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.720 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		0.720 GeneticVariation GWASCAT Genome-wide association study identifies variants associated with autoimmune hepatitis type 1. 24768677

2014
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		C 0.710 GeneticVariation GWASCAT Identification of nine new susceptibility loci for endometrial cancer. 30093612

2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.710 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191

2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		C 0.710 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191

2016
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: 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: 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: 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: 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: 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: 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: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965

2016
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: 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