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: 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: 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 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 Genome-wide association study of colorectal cancer identifies six new susceptibility loci. 26151821

2015
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: 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: 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: 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: 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: rs739496
rs739496
ATXN2 ; SH2B3
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		A 0.700 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978

2010
dbSNP: rs739496
rs739496
ATXN2 ; SH2B3
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies candidate Loci associated with platelet count in koreans. 25705162

2014
dbSNP: rs739496
rs739496
ATXN2 ; SH2B3
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117

2018
dbSNP: rs739496
rs739496
ATXN2 ; SH2B3
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117

2018
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