FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Weill-Marchesani Syndrome, Autosomal Dominant ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566911957
rs1566911957
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease:
Weill-Marchesani Syndrome, Autosomal Dominant 		G 0.700 CausalMutation CLINVAR