CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Bone Cysts, Aneurysmal ×
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: rs121909044
rs121909044 		0.925 0.200 7 117587812 missense variant G/A;C snv 4.0E-06
CUI: C0152244
Disease: Bone Cysts, Aneurysmal
Bone Cysts, Aneurysmal 		Neoplasms; Musculoskeletal Diseases 0.010 1.000 1 2009 2009