| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.010 | GeneticVariation | BEFREE | To evaluate the association of the polymorphisms in the TGFB3 gene (rs2268626) and the BMP4 gene (rs17563) with isolated human tooth agenesis. | 22191848 | 2012 | |||||||
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A | 0.700 | GeneticVariation | GWASCAT | Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations. | 24236485 | 2013 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | GWASCAT | Leveraging Polygenic Functional Enrichment to Improve GWAS Power. | 30595370 | 2019 | |||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.700 | GeneticVariation | GWASDB | Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. | 21194676 | 2011 | |||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | TGF-β - an excellent servant but a bad master. | 22943793 | 2012 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. | 23824657 | 2013 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. | 25835445 | 2015 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Crystal structure of transforming growth factor-beta 2: an unusual fold for the superfamily. | 1631557 | 1992 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. | 25835445 | 2015 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. | 25835445 | 2015 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. | 24798638 | 2014 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. | 25835445 | 2015 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. | 26184463 | 2015 | ||||||
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0.010 | GeneticVariation | BEFREE | SNPs in TGF-β2 (rs1891467) and TGF-β3 (rs3917200) were investigated in 296 patients with sarcoidosis (acute/self remitting, n = 70 (including 62 patients with Löfgren's syndrome); chronic, n = 168; acute/chronic, n = 58) by real-time PCR. | 21148227 | 2011 | |||||||
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0.010 | GeneticVariation | BEFREE | In a prospective nationwide cohort of patients with pneumococcal meningitis, we performed a genetic association study and found that single-nucleotide polymorphisms in the inflammasome genes CARD8 (rs2043211) and NLRP1 (rs11621270) are associated with poor disease outcome. | 23053059 | 2013 | |||||||
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0.010 | GeneticVariation | BEFREE | A fetal TGF-beta3 polymorphism (rs11466414) is associated with PIH in a predominantly Hispanic population. | 19628198 | 2009 |