SFTPB, surfactant protein B, 6439

N. diseases: 108; N. variants: 11
Disease: Respiratory Distress Syndrome, Newborn ×
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: rs1130866
rs1130866 		0.827 0.160 2 85666618 missense variant G/A;C snv 0.50
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.030 1.000 3 2000 2006
dbSNP: rs7316
rs7316 		0.882 0.160 2 85658890 3 prime UTR variant T/C snv 0.14
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2018 2018