FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
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: rs1566891701
rs1566891701
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		G 0.700 CausalMutation CLINVAR Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 30675029 2019