Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17228212
rs17228212
SMAD3
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		C 0.810 GeneticVariation GWASCAT The combined analysis of the two studies identified four additional loci significantly associated with coronary artery disease (P<1.3x10(-6)) and a high probability (>80%) of a true association: chromosomes 1p13.3 (rs599839), 1q41 (rs17465637), 10q11.21 (rs501120), and 15q22.33 (rs17228212). 17634449

2007
dbSNP: rs744910
rs744910
SMAD3
CUI: C0004096
Disease: Asthma
Asthma 		G 0.810 GeneticVariation GWASCAT We observed associations of genomewide significance between asthma and the following single-nucleotide polymorphisms: rs3771166 on chromosome 2, implicating IL1RL1/IL18R1 (P=3×10(−9)); rs9273349 on chromosome 6, implicating HLA-DQ (P=7×10(−14)); rs1342326 on chromosome 9, flanking IL33 (P=9×10(−10)); rs744910 on chromosome 15 in SMAD3 (P=4×10(−9)); and rs2284033 on chromosome 22 in IL2RB (P=1.1×10(−8)). 20860503

2010
dbSNP: rs17293632
rs17293632
SMAD3
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		T 0.800 GeneticVariation GWASCAT Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463

2010
dbSNP: rs17293632
rs17293632
SMAD3
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		T 0.800 GeneticVariation GWASCAT Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233

2012
dbSNP: rs12913547
rs12913547
SMAD3
CUI: C0524957
Disease: Corneal Topography
Corneal Topography 		T 0.800 GeneticVariation GWASCAT Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. 23291589

2013
dbSNP: rs17228058
rs17228058
SMAD3
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		G 0.800 GeneticVariation GWASCAT A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. 23817569

2013
dbSNP: rs17294280
rs17294280
SMAD3
CUI: C0004096
Disease: Asthma
Asthma 		G 0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. 24388013

2014
dbSNP: rs17294280
rs17294280
SMAD3
CUI: C0018621
Disease: Hay fever
Hay fever 		G 0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. 24388013

2014
dbSNP: rs17293632
rs17293632
SMAD3
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		A 0.800 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919

2015
dbSNP: rs17293632
rs17293632
SMAD3
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		A 0.800 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919

2015
dbSNP: rs17293632
rs17293632
SMAD3
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		A 0.700 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919

2015
dbSNP: rs72743477
rs72743477
SMAD3
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		G 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015
dbSNP: rs72743477
rs72743477
SMAD3
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		G 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015
dbSNP: rs72743477
rs72743477
SMAD3
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		G 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015
dbSNP: rs72743477
rs72743477
SMAD3
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		G 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015
dbSNP: rs72743477
rs72743477
SMAD3
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		G 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015
dbSNP: rs72743477
rs72743477
SMAD3
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		G 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015
dbSNP: rs72743477
rs72743477
SMAD3
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		G 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015
dbSNP: rs72743477
rs72743477
SMAD3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		G 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015
dbSNP: rs72743477
rs72743477
SMAD3
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		G 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015
dbSNP: rs72743477
rs72743477
SMAD3
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		G 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015
dbSNP: rs72743477
rs72743477
SMAD3
CUI: C0033860
Disease: Psoriasis
Psoriasis 		G 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015
dbSNP: rs72743477
rs72743477
SMAD3
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		G 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015
dbSNP: rs72743477
rs72743477
SMAD3
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		G 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015
dbSNP: rs72743477
rs72743477
SMAD3
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		G 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015