rs143595616, NUP214

N. diseases: 2
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.
Progressive microcephaly
CUI: C1850456
Disease: Progressive microcephaly
4 9 131127590 missense variant C/T snv 6.8E-05 3.5E-05 0.700 0
Recurrent encephalopathy
CUI: C1850719
Disease: Recurrent encephalopathy
1 9 131127590 missense variant C/T snv 6.8E-05 3.5E-05 0.700 0