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: rs1057518944
rs1057518944
0.807 0.280 5 36984990 frameshift variant CT/- delins
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.700 0