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.
Mucopolysaccharidosis type IVB
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
72 0.925 0.120 3 33016744 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 8 1991 2009
GALACTOSIALIDOSIS
CUI: C0268233
Disease: GALACTOSIALIDOSIS
19 0.925 0.120 3 33016744 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2003 2003