SMAD3, SMAD family member 3, 4088

N. diseases: 470; N. variants: 95
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17228212
rs17228212
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0010068
Disease:
Coronary heart disease
0.810 GeneticVariation BEFREE The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1.26), MIA3 rs17465637 (OR 1.10; 1.04-1.15), Ch2q36 rs2943634 (OR 1.08; 1.03-1.14), APC rs383830 (OR 1.10; 1.02, 1.18), MTHFD1L rs6922269 (OR 1.10; 1.03, 1.16), CXCL12 rs501120 (OR 1.12; 1.04, 1.20), and SMAD3 rs17228212 (OR 1.11; 1.05, 1.17) were all associated with CHD risk, but not with the CHD biomarkers and risk factors measured. 21804106 2012
dbSNP: rs744910
rs744910
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0004096
Disease:
Asthma
0.810 GeneticVariation GWASDB Genome-wide association study to identify genetic determinants of severe asthma. 22561531 2012
dbSNP: rs17228212
rs17228212
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0010068
Disease:
Coronary heart disease
0.810 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: rs744910
rs744910
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0004096
Disease:
Asthma
0.810 GeneticVariation GWASDB Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. 21907864 2011
dbSNP: rs744910
rs744910
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0004096
Disease:
Asthma
G 0.810 GeneticVariation GWASDB 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: rs744910
rs744910
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0004096
Disease:
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: rs744910
rs744910
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0004096
Disease:
Asthma
0.810 GeneticVariation BEFREE 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: rs17228212
rs17228212
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0010068
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: rs17228212
rs17228212
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0010068
Disease:
Coronary heart disease
C 0.810 GeneticVariation GWASDB 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: rs17293632
rs17293632
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0010346
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
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0021390
Disease:
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: rs387906851
rs387906851
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C3151087
Disease:
LOEYS-DIETZ SYNDROME 3
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs387906852
rs387906852
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C3151087
Disease:
LOEYS-DIETZ SYNDROME 3
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs17293632
rs17293632
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0010346
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: rs17294280
rs17294280
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C1527304
Disease:
Allergic Reaction
0.800 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs17293632
rs17293632
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0010346
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
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0021390
Disease:
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: rs387906851
rs387906851
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C3151087
Disease:
LOEYS-DIETZ SYNDROME 3
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs387906852
rs387906852
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C3151087
Disease:
LOEYS-DIETZ SYNDROME 3
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs387906851
rs387906851
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C3151087
Disease:
LOEYS-DIETZ SYNDROME 3
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340 2014
dbSNP: rs387906852
rs387906852
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C3151087
Disease:
LOEYS-DIETZ SYNDROME 3
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340 2014
dbSNP: rs12913547
rs12913547
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0524957
Disease:
Corneal Topography
T 0.800 GeneticVariation GWASCAT Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. 23291589 2013
dbSNP: rs12913547
rs12913547
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C0524957
Disease:
Corneal Topography
T 0.800 GeneticVariation GWASDB Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. 23291589 2013
dbSNP: rs17228058
rs17228058
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C1527304
Disease:
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: rs17228058
rs17228058
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C1527304
Disease:
Allergic Reaction
G 0.800 GeneticVariation GWASDB A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. 23817569 2013