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: 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: rs17293632
rs17293632
SMAD3
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.800 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908

2017
dbSNP: rs17293632
rs17293632
SMAD3
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908

2017
dbSNP: rs17293632
rs17293632
SMAD3
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.800 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016
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: 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: 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: rs17294280
rs17294280
SMAD3
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		0.800 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965

2016
dbSNP: rs56062135
rs56062135
SMAD3
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		T 0.710 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778

2018
dbSNP: rs56062135
rs56062135
SMAD3
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		C 0.710 GeneticVariation GWASCAT A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. 26343387

2015
dbSNP: rs10152595
rs10152595
SMAD3
CUI: C0004096
Disease: Asthma
Asthma 		C 0.700 GeneticVariation GWASCAT Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis. 31619474

2019
dbSNP: rs10152595
rs10152595
SMAD3
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs10438355
rs10438355
SMAD3
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs11071939
rs11071939
SMAD3
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163

2019
dbSNP: rs11639295
rs11639295
SMAD3
CUI: C0339682
Disease: Regular astigmatism - corneal
Regular astigmatism - corneal 		T 0.700 GeneticVariation GWASCAT Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci. 30306274

2018
dbSNP: rs117683492
rs117683492
SMAD3
CUI: C0004096
Disease: Asthma
Asthma 		A 0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738

2019
dbSNP: rs12901071
rs12901071
SMAD3
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		A 0.700 GeneticVariation GWASCAT Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis. 30374069

2018
dbSNP: rs12901372
rs12901372
SMAD3
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		C 0.700 GeneticVariation GWASCAT Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. 30664745

2019
dbSNP: rs12901372
rs12901372
SMAD3
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		C 0.700 GeneticVariation GWASCAT Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis. 30374069

2018
dbSNP: rs12912010
rs12912010
SMAD3
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness 		T 0.700 GeneticVariation GWASCAT Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. 29760442

2018
dbSNP: rs12912045
rs12912045
SMAD3
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 GeneticVariation GWASCAT A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. 29235454

2017