rs3184504, SH2B3;ATXN2

N. diseases: 92
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Insulin-Dependent
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
Diabetes Mellitus, Insulin-Dependent
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
Eosinophil count procedure
CUI: C0200638
Disease: Eosinophil count procedure
0.800 GeneticVariation GWASCAT Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. 19198610 2009
Eosinophil count procedure
CUI: C0200638
Disease: Eosinophil count procedure
0.800 GeneticVariation GWASDB Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. 19198610 2009
Red Blood Cell Count measurement
CUI: C0014772
Disease: Red Blood Cell Count measurement
0.800 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
0.700 GeneticVariation GWASCAT Genome-wide association study of blood pressure and hypertension. 19430479 2009
Diastolic blood pressure measurement
CUI: C1305849
Disease: Diastolic blood pressure measurement
0.700 GeneticVariation GWASDB Genome-wide association study of blood pressure and hypertension. 19430479 2009
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
0.700 GeneticVariation GWASCAT Genome-wide association study of blood pressure and hypertension. 19430479 2009
Systolic blood pressure measurement
CUI: C1306620
Disease: Systolic blood pressure measurement
0.700 GeneticVariation GWASDB Genome-wide association study of blood pressure and hypertension. 19430479 2009
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.010 GeneticVariation BEFREE Three SNPs were found to be associated with MS: rs1678542 in KIF5A (P=0.001, odds ratio (OR)=1.13, 95% confidence interval (CI)=1.05-1.23); rs3184504 in SH2B3 (P=0.00001, OR=1.19, 95% CI=1.10-1.27) and rs763361 in CD226 (P=0.00007, OR=1.16, 95%CI=1.08-1.25). 20508602 2010
Eosinophilic disorder
CUI: C1306759
Disease: Eosinophilic disorder
0.010 GeneticVariation BEFREE We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy controls, and genotyped 10 SNPs affecting eosinophilia (rs1420101 in IL1RL1, rs12619285 in IKZF2, rs4431128 in GATA2, rs4143832 in IL5, rs3184504 in SH2B3, rs2416257 in WDR36, rs2269426 in MHC, rs9494145 in MYB, rs748065 in GFRA2, and rs3939286 in IL33) using MALDI-TOF. 19860791 2010
Eosinophilia
CUI: C0014457
Disease: Eosinophilia
0.010 GeneticVariation BEFREE We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy controls, and genotyped 10 SNPs affecting eosinophilia (rs1420101 in IL1RL1, rs12619285 in IKZF2, rs4431128 in GATA2, rs4143832 in IL5, rs3184504 in SH2B3, rs2416257 in WDR36, rs2269426 in MHC, rs9494145 in MYB, rs748065 in GFRA2, and rs3939286 in IL33) using MALDI-TOF. 19860791 2010
Diabetes Mellitus, Insulin-Dependent
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
Diabetes Mellitus, Insulin-Dependent
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
0.820 GeneticVariation GWASCAT Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393 2011
Diabetes Mellitus, Insulin-Dependent
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
Coronary heart disease
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
Celiac Disease
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
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
0.810 GeneticVariation GWASCAT Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. 22057235 2011
Platelet Count measurement
CUI: C0032181
Disease: Platelet Count measurement
0.800 GeneticVariation GWASDB New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
Platelet Count measurement
CUI: C0032181
Disease: Platelet Count measurement
0.800 GeneticVariation GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
Autoantibody measurement
CUI: C1272321
Disease: Autoantibody measurement
0.800 GeneticVariation GWASDB Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393 2011
Blood Pressure
CUI: C0005823
Disease: Blood Pressure
0.700 GeneticVariation GWASDB Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. 21909110 2011
Diastolic blood pressure measurement
CUI: C1305849
Disease: Diastolic blood pressure measurement
0.700 GeneticVariation GWASDB Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. 21909115 2011
Immune System Diseases
CUI: C0021053
Disease: Immune System Diseases
0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967 2011
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
0.700 GeneticVariation GWASCAT Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. 21909115 2011