Disease: Familial thoracic aortic aneurysm and aortic dissection ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906697
rs387906697
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. 21358634 2011