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: rs727503476
rs727503476
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		T 0.700 GeneticVariation CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466 2013
dbSNP: rs727503476
rs727503476
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		T 0.700 GeneticVariation CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994 2006