Gene: TGFBR2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553630221
rs1553630221
TGFBR2
C 0.700 GeneticVariation CLINVAR A Decade of Discovery in the Genetic Understanding of Thoracic Aortic Disease. 26724507

2016
dbSNP: rs1553630221
rs1553630221
TGFBR2
C 0.700 GeneticVariation CLINVAR The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD). 24793577

2014
dbSNP: rs1553630221
rs1553630221
TGFBR2
C 0.700 GeneticVariation CLINVAR Lessons on the pathogenesis of aneurysm from heritable conditions. 21593863

2011
dbSNP: rs1553630221
rs1553630221
TGFBR2
C 0.700 GeneticVariation CLINVAR Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. 21098638

2010
dbSNP: rs1553630221
rs1553630221
TGFBR2
C 0.700 GeneticVariation CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994

2006
dbSNP: rs1553630221
rs1553630221
TGFBR2
C 0.700 GeneticVariation CLINVAR A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757

2005