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.
GALACTOSIALIDOSIS
CUI: C0268233
Disease: GALACTOSIALIDOSIS
19 0.925 0.080 20 45892434 missense variant G/A snv 1.2E-05 7.0E-06 0.800 1.000 4 1991 2000
GALACTOSIALIDOSIS, EARLY INFANTILE
CUI: C4017294
Disease: GALACTOSIALIDOSIS, EARLY INFANTILE
3 0.925 0.080 20 45892434 missense variant G/A snv 1.2E-05 7.0E-06 0.700 0