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: rs137852353
rs137852353 		1.000 0.080 Y 1290449 missense variant G/A;C snv
CUI: C2677877
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 4
Surfactant Metabolism Dysfunction, Pulmonary, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.800 0
dbSNP: rs753455319
rs753455319 		1.000 0.040 Y 1294330 stop gained C/A;T snv
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014