Disease: Aortic aneurysm, familial thoracic 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553630457
rs1553630457
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		C 0.700 CausalMutation CLINVAR Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. 28344185 2017