FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Craniosynostosis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs140598
rs140598 		0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1997 1997