ATXN2, ataxin 2, 6311

N. diseases: 341; N. variants: 50
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0010068
Disease:
Coronary heart disease 		0.820 GeneticVariation BEFREE The R262W polymorphism is associated with risk of CHD or MI in Europeans, but not in Asians. 30508957 2018
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0011854
Disease:
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
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.820 GeneticVariation BEFREE After adjusting for country, sex, family history, and all other genetic loci, significantly greater co-occurrence was observed in children with a T1D family history (HR: 2.80), HLA-DR3/4 (HR: 1.94) and single-nucleotide polymorphism rs3184504 at SH2B3 (HR: 1.53). 29018046 2017
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0010068
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
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0010068
Disease:
Coronary heart disease 		0.820 GeneticVariation BEFREE In conclusion, our results supported a significant association between rs3184504 of SH2B3 gene and the risk of CHD in Europeans and South Asians, although we were unable to observe association between the four variants and the risk of CHD in Han Chinese. 23328882 2013
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.820 GeneticVariation GWASDB A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. 21980299 2011
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0011854
Disease:
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
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.820 GeneticVariation BEFREE The SH2B3 784T>C variant could contribute to the pathogenesis of T1D through impaired immune response that promotes activation and expansion of self-reactive lymphocytes in susceptible individuals. 20546165 2011
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0010068
Disease:
Coronary heart disease 		0.820 GeneticVariation GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.820 GeneticVariation GWASDB Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0011854
Disease:
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
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C1956346
Disease:
Coronary Artery Disease 		0.810 GeneticVariation BEFREE Role of SH2B3 R262W gene polymorphism and risk of coronary heart disease: A PRISMA-compliant meta-analysis. 30508957 2018
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C1956346
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
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0007570
Disease:
Celiac Disease 		0.810 GeneticVariation BEFREE However, the minor allele A of rs3184504 (A vs G, OR = 1.18, 95%CI = 1.12-1.24, P < 0.001) in SH2B3 significantly increased CD susceptibility. 26535636 2015
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C1956346
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
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C1956346
Disease:
Coronary Artery Disease 		T 0.810 GeneticVariation GWASDB Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 24262325 2014
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C1956346
Disease:
Coronary Artery Disease 		0.810 GeneticVariation GWASDB Large-scale association analysis identifies new risk loci for coronary artery disease. 23202125 2013
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0007570
Disease:
Celiac Disease 		0.810 GeneticVariation GWASDB Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. 22057235 2011
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0007570
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
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
CUI: C0007570
Disease:
Celiac Disease 		0.810 GeneticVariation BEFREE The locus 12q24 (lead SNP rs653178), which has demonstrated extensive disease pleiotropy, including type 1 diabetes, hypertension, and celiac disease, was associated to a pattern strongly correlating to blood pressure level. 22144904 2011
dbSNP: rs653178
rs653178
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
CUI: C0007570
Disease:
Celiac Disease 		G 0.810 GeneticVariation GWASCAT Multiple common variants for celiac disease influencing immune gene expression. 20190752 2010
dbSNP: rs653178
rs653178
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
CUI: C0007570
Disease:
Celiac Disease 		G 0.810 GeneticVariation GWASDB Multiple common variants for celiac disease influencing immune gene expression. 20190752 2010
dbSNP: rs653178
rs653178
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
CUI: C0007570
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
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
CUI: C0007570
Disease:
Celiac Disease 		G 0.810 GeneticVariation GWASDB Newly identified genetic risk variants for celiac disease related to the immune response. 18311140 2008
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.800 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019