rs121918181, GUSB

N. diseases: 3
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 VII
CUI: C0085132
Disease: Mucopolysaccharidosis VII
37 0.882 0.120 7 65979782 missense variant G/A snv 5.6E-05 7.0E-05 0.820 1.000 14 1991 2003
Mucopolysaccharidosis VI
CUI: C0026709
Disease: Mucopolysaccharidosis VI
124 0.882 0.120 7 65979782 missense variant G/A snv 5.6E-05 7.0E-05 0.700 1.000 7 1994 2018
Mucopolysaccharidoses
CUI: C0026703
Disease: Mucopolysaccharidoses
7 0.882 0.120 7 65979782 missense variant G/A snv 5.6E-05 7.0E-05 0.010 1.000 1 1994 1994