rs104894637, SGSH

N. diseases: 2
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 Type IIIA
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
69 0.925 0.120 17 80217084 missense variant G/A;C snv 4.4E-06; 9.3E-05 0.800 1.000 19 1997 2017
Mucopolysaccharidosis III
CUI: C0026706
Disease: Mucopolysaccharidosis III
15 0.925 0.120 17 80217084 missense variant G/A;C snv 4.4E-06; 9.3E-05 0.700 1.000 3 1997 2004