FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Congenital contractural arachnodactyly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519320
rs1057519320
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0220668
Disease:
Congenital contractural arachnodactyly 		A 0.700 GeneticVariation CLINVAR