FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Congenital pectus carinatum ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566913974
rs1566913974
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0158731
Disease:
Congenital pectus carinatum 		C 0.700 CausalMutation CLINVAR