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 IV
CUI: C0026707
Disease: Mucopolysaccharidosis IV
9 0.882 0.120 16 88824853 missense variant G/A snv 9.2E-05 4.9E-05 0.710 1.000 3 1996 2013
Mucopolysaccharidosis, MPS-IV-A
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
90 0.882 0.120 16 88824853 missense variant G/A snv 9.2E-05 4.9E-05 0.700 1.000 8 1995 2015
Mucopolysaccharidoses
CUI: C0026703
Disease: Mucopolysaccharidoses
7 0.882 0.120 16 88824853 missense variant G/A snv 9.2E-05 4.9E-05 0.010 1.000 1 1996 1996