Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555360362
rs1555360362
T 0.700 GeneticVariation CLINVAR Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445

2015

dbSNP: rs1555360883
rs1555360883
G 0.700 GeneticVariation CLINVAR Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445

2015

dbSNP: rs1566682530
rs1566682530
G 0.700 GeneticVariation CLINVAR Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445

2015

dbSNP: rs796051885
rs796051885
A 0.700 CausalMutation CLINVAR Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445

2015

dbSNP: rs796051885
rs796051885
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

dbSNP: rs796051885
rs796051885
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

dbSNP: rs1555360362
rs1555360362
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

dbSNP: rs1555360362
rs1555360362
T 0.700 GeneticVariation CLINVAR TGF-β - an excellent servant but a bad master. 22943793

2012

dbSNP: rs1555360362
rs1555360362
T 0.700 GeneticVariation CLINVAR Crystal structure of transforming growth factor-beta 2: an unusual fold for the superfamily. 1631557

1992

dbSNP: rs1057523647
rs1057523647
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502826
rs1060502826
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060502827
rs1060502827
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555360222
rs1555360222
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555360229
rs1555360229
A 0.700 CausalMutation CLINVAR

dbSNP: rs587777617
rs587777617
T 0.700 GeneticVariation CLINVAR