rs104894599, NAGLU

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.
MPS III B
CUI: C0086648
Disease: MPS III B
92 0.925 0.120 17 42536416 missense variant C/A;G;T snv 7.1E-06 0.710 1.000 15 1998 2017
Mucopolysaccharidosis III
CUI: C0026706
Disease: Mucopolysaccharidosis III
15 0.925 0.120 17 42536416 missense variant C/A;G;T snv 7.1E-06 0.010 1.000 1 2000 2000