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 3 33018542 missense variant T/C snv 4.0E-06 0.030 1.000 3 1998 2003