rs1554034812, NIPBL

N. diseases: 3
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.
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 0.240 5 37058938 frameshift variant G/- delins 0.700 0
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
83 0.925 0.240 5 37058938 frameshift variant G/- delins 0.700 0
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.925 0.240 5 37058938 frameshift variant G/- delins 0.700 0