FLNB, filamin B, 2317

N. diseases: 374; N. variants: 51
Disease: Atelosteogenesis, type 1 ×
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: rs80356518
rs80356518 		1.000 0.080 3 58163161 stop gained T/C;G snv 4.0E-06
CUI: C0265283
Disease: Atelosteogenesis, type 1
Atelosteogenesis, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0