Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922228
rs193922228
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1858556
Disease:
OVERLAP CONNECTIVE TISSUE DISEASE
G 0.700 CausalMutation CLINVAR