FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42
Disease: Arachnodactyly ×
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: rs1554122802
rs1554122802 		0.742 0.160 5 128335170 missense variant C/T snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0