rs1057518944, NIPBL

N. diseases: 9
Disease: Congenital hypoplasia of lung ×
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Congenital hypoplasia of lung
CUI: C0265783
Disease: Congenital hypoplasia of lung
6 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0