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 1.000 0.080 20 45891714 missense variant A/G snv 7.0E-06 0.810 1.000 5 1991 2008