Disease: Loeys-Dietz Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869025537
rs869025537
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		A 0.700 GeneticVariation CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466 2013
dbSNP: rs869025537
rs869025537
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		A 0.700 GeneticVariation CLINVAR Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. 22772377 2013
dbSNP: rs869025537
rs869025537
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		A 0.700 GeneticVariation CLINVAR Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS). 18852674 2009