Source: GWASDB

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0010068
Disease: Coronary heart 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
ATXN2 ; SH2B3
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
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
ATXN2 ; SH2B3
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
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
ATXN2 ; SH2B3
CUI: C1956346
Disease: Coronary Artery 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
ATXN2 ; SH2B3
CUI: C1956346
Disease: Coronary Artery 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
ATXN2 ; SH2B3
CUI: C0007570
Disease: Celiac 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: rs653178
rs653178
ATXN2
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		G 0.810 GeneticVariation GWASDB Multiple common variants for celiac disease influencing immune gene expression. 20190752

2010
dbSNP: rs653178
rs653178
ATXN2
CUI: C0007570
Disease: Celiac 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
ATXN2 ; SH2B3
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		T 0.800 GeneticVariation GWASDB A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. 24026423

2014
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0201910
Disease: Beta-2-microglobulin measurement
Beta-2-microglobulin measurement 		C 0.800 GeneticVariation GWASDB The other locus of B2M was on chromosome 12 (rs3184504 at SH2B3, beta = 0.02, p value = 3.1 × 10(-8)), which was previously implicated as an eGFR locus. 23417110

2013
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 GeneticVariation GWASDB Large-scale association analysis identifies new risk loci for coronary artery disease. 23202125

2013
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 GeneticVariation GWASDB Large-scale association analysis identifies new risk loci for coronary artery disease. 23202125

2013
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		T 0.800 GeneticVariation GWASDB Novel associations for hypothyroidism include known autoimmune risk loci. 22493691

2012
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		T 0.800 GeneticVariation GWASDB New gene functions in megakaryopoiesis and platelet formation. 22139419

2011
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		T 0.800 GeneticVariation GWASDB Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393

2011
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.800 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010

2009
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		T 0.800 GeneticVariation GWASDB Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. 19198610

2009
dbSNP: rs4766578
rs4766578
ATXN2
CUI: C0042900
Disease: Vitiligo
Vitiligo 		T 0.800 GeneticVariation GWASDB Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. 22561518

2012
dbSNP: rs653178
rs653178
ATXN2
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		C 0.800 GeneticVariation GWASDB The SNP rs653178 in the ATXN2-SH2B3 locus was significantly associated with PAD in the discovery cohort (OR = 1.23; P = 5.59 × 10(-5)), in the replication cohort (OR = 1.22; 8.9 × 10(-4)) and in the combined cohort (OR = 1.22; P = 6.46 × 10(-7)). 25009551

2014
dbSNP: rs653178
rs653178
ATXN2
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		C 0.800 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967

2011
dbSNP: rs653178
rs653178
ATXN2
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		C 0.800 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967

2011
dbSNP: rs653178
rs653178
ATXN2
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.710 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: rs1029388
rs1029388
ATXN2
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517

2012