rs118204438, GALNS

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, MPS-IV-A
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
90 0.882 0.120 16 88841077 missense variant T/A snv 4.0E-05 7.7E-05 0.710 1.000 7 1995 2014
Mucopolysaccharidosis IV
CUI: C0026707
Disease: Mucopolysaccharidosis IV
9 0.882 0.120 16 88841077 missense variant T/A snv 4.0E-05 7.7E-05 0.700 1.000 4 1998 2014
Mucopolysaccharidoses
CUI: C0026703
Disease: Mucopolysaccharidoses
7 0.882 0.120 16 88841077 missense variant T/A snv 4.0E-05 7.7E-05 0.010 1.000 1 1995 1995