SFTPB, surfactant protein B, 6439

N. diseases: 108; N. variants: 11
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 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: rs137853202
rs137853202 		1.000 0.040 2 85663814 missense variant G/A snv 2.9E-05 1.5E-04
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		Respiratory Tract Diseases 0.800 1.000 1 1995 1995
dbSNP: rs779795223
rs779795223 		1.000 0.040 2 85666648 frameshift variant -/TT ins 2.2E-04 2.4E-04
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		Respiratory Tract Diseases 0.700 1.000 4 1994 2015
dbSNP: rs1553380888
rs1553380888 		1.000 0.040 2 85665723 synonymous variant C/A snv
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1558572491
rs1558572491 		1.000 0.040 2 85661536 splice acceptor variant C/T snv
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		Respiratory Tract Diseases 0.700 0
dbSNP: rs35328240
rs35328240 		1.000 0.040 2 85666649 frameshift variant G/TTC delins
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		Respiratory Tract Diseases 0.700 0