SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
Disease: Bronchopulmonary Dysplasia ×
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: rs34957318
rs34957318 		0.925 0.080 8 22163947 missense variant G/A snv 1.1E-03 4.3E-03
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2014 2014